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Gene: Slc34a1 MGI:1345284

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Slc34a1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Hypopho... OMIM:616963
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia, Hypercalciuria OMIM:612286
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Pathologic fractur... ORPHA:157215
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Osteopenia, Proximal tubulopathy, Elevated ci... OMIM:613388
Primary Fanconi Renotubular Syndrome
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Decreased circulating carnitine co... ORPHA:3337

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Hypopho... OMIM:616963
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria,... OMIM:143880
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Nephrocalcinosis, Hypercalcemia OMIM:211000
Familial Isolated Hyperparathyroidism
Nephrocalcinosis, Renal insufficiency, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Hyper... ORPHA:99879
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Hypercalciuria, Hypercalcemia OMIM:239199
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia, Hypercalciuria OMIM:612286
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Hypophosphatemia, Hyperphosphaturia, Nephrolithiasis OMIM:612287
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Renal potassium ... ORPHA:564178
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... OMIM:300555
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Aminoaciduria, Nephrocalcinosis, Glycosuria, Large for gestational age, Hyperphosph... OMIM:616026
Blue Diaper Syndrome
Nephrocalcinosis, Hyperphosphatemia, Increased body weight, Blue urine, Hypercalcemia ORPHA:94086
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca... OMIM:601198
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Pathologic fractur... ORPHA:157215
Granulomatous Slack Skin
Acute kidney injury, Hypercalcemia, Nephrocalcinosis ORPHA:33111
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Nephrocalcinosis, Failure to thrive, Distal renal tubular acidosis, Hypokalemia, Hypercalciuria OMIM:602722
Hypophosphatemic Rickets, Autosomal Recessive, 2
Medullary nephrocalcinosis, Hypophosphatemic rickets, Hyperphosphaturia OMIM:613312
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Small Cell Carcinoma Of The Bladder
Dysuria, Hematuria, Hypercalcemia, Recurrent urinary tract infections ORPHA:284400
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Elevated circulating creatinine concentration, Low-molecular-weight pr... OMIM:615605
Dent Disease
Renal hypophosphatemia, Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerul... ORPHA:1652
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Calcium nephrolithiasis, Delayed epiphyseal ossification, Rickets, Failu... OMIM:241530
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium... OMIM:618314
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Proteinuria, Glomerulopathy, Hypercalcemia, Renal insufficiency ORPHA:2668
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Osteopenia, Proximal tubulopathy, Elevated ci... OMIM:613388
Fanconi-Bickel Syndrome
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Glycosuria, Failure to thrive, Renal tu... ORPHA:2088
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia, Muscle weakness ORPHA:89937
Hypoparathyroidism, Familial Isolated, 1
Nephrocalcinosis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, H... OMIM:179800
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Polyuria OMIM:620152
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Elevated circulating parathyroid hormone level, Failure to thrive, Polydipsia, Hyp... OMIM:239200
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... OMIM:611555
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting, Rickets, Osteomalacia, Hypophosphatemic rickets, Generalized muscle weak... OMIM:193100
Fanconi-Bickel Syndrome
Hypouricemia, Generalized aminoaciduria, Ketonuria, Beta 2-microglobulinuria, Glycosuria, Failure... OMIM:227810
Hyperparathyroidism 4
Hypercalcemia, Nephrolithiasis OMIM:617343
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,... OMIM:618913
Pseudohypoparathyroidism, Type Ib
Low urinary cyclic AMP response to PTH administration, Obesity, Hyperphosphatemia, Hypocalcemia OMIM:603233
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Recurrent urin... OMIM:248190
Distal Renal Tubular Acidosis
Osteomalacia, Renal potassium wasting, Aminoaciduria, Polydipsia, Rickets, Increased susceptibili... ORPHA:18
Oncogenic Osteomalacia
Renal phosphate wasting, Pathologic fracture, Increased susceptibility to fractures, Hypocalcemia... ORPHA:352540
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Delayed ... OMIM:300554
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis OMIM:620374
Cystinosis
Nephropathy, Aminoaciduria, Type I diabetes mellitus, Polydipsia, Failure to thrive, Rickets, Ren... ORPHA:213
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Decreased response to growth hormone stimulation test, Hypercalcemia, Hypercalciuria,... OMIM:614732
Hypophosphatasia, Infantile
Unossified vertebral bodies, Nephrocalcinosis, Phosphoethanolaminuria, Failure to thrive, Stillbi... OMIM:241500
Glucose-Galactose Malabsorption
Failure to thrive, Renal insufficiency, Nephrolithiasis, Hematuria, Weight loss, Hypercalcemia, H... ORPHA:35710
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Parathyroid agenesis, Congenital hypoparathyroid... ORPHA:2239
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph... OMIM:104200
Hyperoxaluria, Primary, Type Ii
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis OMIM:260000
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Failure to thrive, Renal insufficiency, Abnormality of circulating cortisol lev... ORPHA:320
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Metaphyseal Chondrodysplasia, Jansen Type
Nephrocalcinosis, Hyperphosphaturia, Hypercalciuria, Hypophosphatemia, Hypercalcemia OMIM:156400
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Hypercalciuria, Hypercalcemia OMIM:145980
Primary Fanconi Renotubular Syndrome
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Decreased circulating carnitine co... ORPHA:3337
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... ORPHA:93599
Hjv Or Hamp-Related Hemochromatosis
Impotence, Increased circulating ferritin concentration, Hypogonadism, Lethargy, Osteoporosis, Ab... ORPHA:79230
Myopathy, Tubular Aggregate, 2
Ankle flexion contracture, Neck muscle weakness, Foot dorsiflexor weakness, Hypocalcemia, Elevate... OMIM:615883
Mccune-Albright Syndrome
Renal phosphate wasting, Increased circulating cortisol level, Increased circulating prolactin co... ORPHA:562
Bartter Syndrome, Type 3
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Hyperaldosteronism, Increased urinary potassiu... OMIM:607364
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypocalciuria, Depression, Multiple small medullary renal cysts, Osteomalacia, R... OMIM:600740
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Parathormone-independent increased renal tubular... OMIM:145981
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Enuresis, Failure to thrive, Recurrent urinary tract infections, Decreased glom... ORPHA:93598
Infantile Nephropathic Cystinosis
Aminoaciduria, Glycosuria, Failure to thrive, Low-molecular-weight proteinuria, Hyperphosphaturia... ORPHA:411629
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Polycystic kidney... OMIM:145001
Renal Tubular Acidosis Iii
Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Glycine Encephalopathy 1
Hyperglycinuria, Hyperglycinemia, Aggressive behavior, Lethargy, Hyperactivity, Restlessness, Imp... OMIM:605899
Idiopathic Hypercalciuria
Osteopenia, Renal calcium wasting, Hypercalciuria, Calcium oxalate nephrolithiasis, Osteoporosis ORPHA:2197
Hypomagnesemia 3, Renal
Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating... OMIM:248250
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypophosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia OMIM:619073
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... OMIM:300971
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Failure to thrive, Distal renal tubular acidosis, Hypokalemia, Isothenuria OMIM:611590
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Weight loss, Dysphagi... OMIM:219800
Central Diabetes Insipidus
Depression, Polydipsia, Failure to thrive, Anorexia, Hyponatremia, Lethargy, Weight loss, Nocturi... ORPHA:178029
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Failure to thrive, Low-molecular-wei... ORPHA:47159
Juvenile Nephropathic Cystinosis
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopath... ORPHA:411634
Adamantinoma
Hypercalcemia ORPHA:55881
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Generalized aminoaciduria, Elevated circulating parathyroid horm... OMIM:264700
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Renal phosphate wasting, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Bartter Syndrome, Type 1, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Generalized muscle weakness, Renal salt wasti... OMIM:601678
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Renal insufficiency, Renal hypoplasia/aplasia ORPHA:2123
Rhabdoid Tumor
Hematuria, Weight loss, Hypercalcemia, Renal neoplasm ORPHA:69077
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hyperphosphatemia, Hydroxyprolinuria, Failure to thrive, Increased bone mineral densi... OMIM:239000
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalciuria, Hypomagnesiuria, Nephrolithiasis, Paratho... ORPHA:405
Non-Functioning Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Weight loss, E... ORPHA:94080
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Failure to thrive, Hyponatremia, Increased circu... OMIM:610600
Addison Disease
Adrenal calcification, Weight loss, Anorexia, Hypoparathyroidism, Renal salt wasting, Premature o... ORPHA:85138
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Osteopenia, Pituitary adenoma, Increased circulating cortisol level, Inc... ORPHA:97289
Bartter Syndrome Type 4
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Small for gestational age, Failure... ORPHA:89938
Acute Adrenal Insufficiency
Weight loss, Anorexia, Renal salt wasting, Hyperkalemia, Androgen insufficiency, Primary adrenal ... ORPHA:95409
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Failure to thrive, Hypocalcemia, Sparse bone trabeculae... OMIM:600081
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Pituitary adenoma, Failure to thrive, Graves disease, Adrenocorticotrop... ORPHA:199299
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
2P21 Microdeletion Syndrome
Cystinuria, Hypocalcemia, Failure to thrive, Nephrolithiasis ORPHA:163693
Familial Hyperaldosteronism Type Iii
Polydipsia, Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Hypercalciuria, Muscle ... ORPHA:251274
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Failure to thrive, Renal tubular acidos... OMIM:613404
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Polydipsia, Metaca... OMIM:617994
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... OMIM:241520
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty, Osteopenia, Horseshoe kidney, Hypophosphatemic rickets, Hyperphosphaturia, Op... OMIM:163200
Parathyroid Carcinoma
Nephrocalcinosis, Elevated circulating parathyroid hormone level, Renal hamartoma, Parathyroid ca... ORPHA:143
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Elevated urinary dihydrothymine level, Lethargy, Hyperactivity, Uraciluria OMIM:274270
Bartter Syndrome, Type 2, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Generalized muscle weakness, Renal salt wasti... OMIM:241200
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Failure to thrive, Hyperphosphaturia, Renal tubular dysfunction, Prote... ORPHA:436271
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Renal phosphate wasting, Abnormal trabecular bone morphology, Pseudo-frac... ORPHA:289176
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Anorexia, Adrenal insufficiency, Hyperglycinemia, Hyperamylasemia, Renal insuffici... OMIM:619386
Glutaric Acidemia Type 3
Glutaric aciduria, Elevated circulating glutaric acid concentration, Ketonuria, Failure to thrive... ORPHA:35706
Renal Tubular Acidosis, Proximal
Rickets, Osteomalacia, Elevated circulating creatinine concentration, Hypercalciuria, Proximal re... OMIM:179830
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Muscle weakness, Large for gestat... ORPHA:276580
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Chronic kidney disease, Stage 5 chronic kidney disease, ... ORPHA:94059
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Nephrocalcinosis, Hypomagnesemia, Hyperaldosteronism, Hypocalc... ORPHA:73224
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypokalem... OMIM:613677
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Generalized aminoaciduria, Elevated circulating parathyroid horm... ORPHA:289157
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Hypercalcemia, Eleva... ORPHA:284426
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated urinary 3-hydroxybutyric acid, Ketonuria, D... OMIM:605911
Fructose Intolerance, Hereditary
Proximal tubulopathy, Transient aminoaciduria, Glycosuria, Failure to thrive, Hyperbilirubinemia,... OMIM:229600
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Nephrocalcinosis, Hyperphosphatemia, Decreased renal tubular phosphate excretion, Increased renal... OMIM:211900
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Elevated circulating parathyroid hormone level, Failure to thriv... OMIM:277440
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Elevated circulating parathyroid hormone level, Renal hamartoma, Polydipsia, Ab... ORPHA:99880
Autosomal Dominant Hypocalcemia
Nephrocalcinosis, Depression, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Fatigable weakness... ORPHA:428
Oculoskeletodental Syndrome
Renal agenesis, Hypocalcemia, Hypercalciuria, Mucopolysacchariduria, Hypercalcemia, Small for ges... OMIM:618440
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Coarse metaphyseal trabecularization, Osteomalacia, Recurrent fractures, Hyp... ORPHA:93160
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Failure to thrive, Hyperphosphaturia, Renal tubular dysfunction, Prote... OMIM:220110
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lower-limb joint contracture, Lethargy, Distal muscle weakness, Muscle weakness OMIM:613710
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Failure to thrive, Anorexia ORPHA:79283
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Elevated circulating parathyroid hormone level, Rickets, Osteomalacia, H... OMIM:307800
Severe Canavan Disease
Oral-pharyngeal dysphagia, Joint stiffness, Lethargy, Elevated urine N-acetylaspartic acid level,... ORPHA:314911
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Increased level of methylsuc... ORPHA:26792
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Large for gestational age, Hyperinsulinemia, Excessive insu... ORPHA:324575
Hemochromatosis, Type 2A
Increased circulating iron concentration, Increased circulating ferritin concentration, Azoosperm... OMIM:602390
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171420
Paternal Uniparental Disomy Of Chromosome 1
Obesity, Recurrent fractures, Proteinuria, Polyphagia, Delayed puberty, Increased blood urea nitr... ORPHA:251004
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, W... ORPHA:276621
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Elevated circulating thyroid-s... OMIM:612462
Combined Oxidative Phosphorylation Deficiency 55
Proximal tubulopathy, Organic aciduria, Hypomagnesemia, Stage 3 chronic kidney disease, Medullary... OMIM:619743
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Large for gestational age, Hyperi... ORPHA:276575
Hyperlysinuria With Hyperammonemia
Hyperlysinuria, Hyperammonemia, Lethargy, Hyperlysinemia, Dibasicaminoaciduria OMIM:238750
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis, Obesity OMIM:615633
Wilson Disease
Hypouricemia, Osteomalacia, Hyperbilirubinemia, Limb muscle weakness, Hypoparathyroidism, Decreas... OMIM:277900
Paget Disease Of Bone 6
Nephrocalcinosis OMIM:616833
Gitelman Syndrome
Hypocalciuria, Enuresis, Renal magnesium wasting, Failure to thrive, Hypomagnesemia, Polydipsia, ... OMIM:263800
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Hyperammonemia, 3-Methylglutaconic aciduria, Elevated circulating crea... OMIM:618120
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
East Syndrome
Polydipsia, Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagnesemia, ... ORPHA:199343
Pseudohypoparathyroidism Type 1B
Pituitary resistance to thyroid hormone, Depression, Hyperphosphatemia, Elevated circulating para... ORPHA:94089
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Decreased serum testosterone concentration, Inferti... ORPHA:465508
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Hyperphosphatemia, Fatigable weakness of swallowing muscles, Lower... ORPHA:99845
Oculoskeletodental Syndrome
Nephrocalcinosis, Hypercalcemia, Hypocalcemia ORPHA:557003
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Aminoaciduria, Nephrocalcinosis, Failure to thrive, Reduced renal corticomedullary d... OMIM:208085
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Rickets,... OMIM:309000
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Failure to thrive, Hyperaldosteronism, Decreased glomerular fil... OMIM:613090
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Hypomagnesemia 2, Renal
Hypocalciuria, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, Hypokalemia OMIM:154020
Hypophosphatasia
Failure to thrive in infancy, Craniosynostosis, Hypercalcemia, Recurrent fractures ORPHA:436
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, ... ORPHA:94088
Corticosterone Methyloxidase Type I Deficiency
Failure to thrive, Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level OMIM:203400
Medullary Sponge Kidney
Hematuria, Distal renal tubular acidosis, Hypercalciuria, Nephrolithiasis ORPHA:1309
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypocalciuria, Enuresis, Polydipsia, Hypomagnesemia, Hyperaldosteronism, Renal sodium wasting, Hy... OMIM:612780
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Failure to thrive, Hyperaldosteronism, Hyponatremia, Renal salt wasting, Hyperkalemia OMIM:264350
Hypotonia-Cystinuria Syndrome
Cystine crystalluria, Failure to thrive, Muscle weakness, Decreased response to growth hormone st... OMIM:606407
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Renal sodium wasting, Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal ... ORPHA:556037
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Hyperammonemia, Fatigable weakness... ORPHA:42
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Large for gestational age, Excessive insulin response to gl... ORPHA:276556
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Reduced bone mineral density, Abnormality of the kidney ORPHA:2611
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Generalized muscle weakness, Increased body ... ORPHA:276608
Hypothyroidism, Congenital, Nongoitrous, 7
Decreased circulating T4 concentration, Lethargy, Reduced TSH response to thyrotrophin-releasing ... OMIM:618573
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Low urinary cyclic AMP respons... OMIM:103580
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Hyperk... OMIM:614736
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Large for gestational age, Hypophosphatemic rickets, Hyperinsulinemia, Pancreatic isl... ORPHA:263455
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, W... ORPHA:29072
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy, Renal insufficiency, Hyperammonemia, Failure to thrive ORPHA:28
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Ophthalmoparesis, Graves disease, Urinary retention, Lower limb muscle weak... ORPHA:79102
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Weight loss, Osteoporosis, Hypop... ORPHA:398063
Primary Hyperoxaluria
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Failure to thrive, ... ORPHA:416
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Homocystinuria, Methylmalonic aciduria, Failure to thrive, Hypomethioninemia, Lethargy, Hyperhomo... OMIM:236270
Infantile Myofibromatosis
Limitation of joint mobility, Bone cyst, Abnormality of the kidney, Hypercalcemia, Osteolysis ORPHA:2591
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Renal sodium wasting, Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal ... ORPHA:556030
Classic Galactosemia
Depression, Premature ovarian insufficiency, Attention deficit hyperactivity disorder, Lethargy, ... ORPHA:79239
Familial Hypoaldosteronism
Failure to thrive, Adrenal insufficiency, Hyponatremia, Decreased urinary potassium, Lethargy, De... ORPHA:427
Hypophosphatemic Bone Disease
Hypophosphatemia, Rickets, Osteomalacia OMIM:146350
Paget Disease Of Bone 2, Early-Onset
Hydroxyprolinuria, Fractures of the long bones, Sclerosis of skull base, Increased susceptibility... OMIM:602080
Hypercalciuria, Absorptive, 2
Calcium oxalate nephrolithiasis, Hypercalciuria OMIM:143870
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Thickened glomerular basement membrane, Chronic kidney disease, Nephrocalcinosis, Unilateral rena... OMIM:146255
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Failure to thrive, Lethargy, Respiratory insufficiency due to muscle weakness, Dysphagia, Muscle ... OMIM:613561
Dihydropyrimidinase Deficiency
Failure to thrive, Elevated circulating thymine concentration, Elevated urinary thymine level, El... OMIM:222748
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Alpha-aminoadipic aciduria, F... OMIM:605711
Citrullinemia Type Ii
Hypoalbuminemia, Mania, Enuresis, Decreased body mass index, Decreased HDL cholesterol concentrat... ORPHA:247585
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Nephrocalcinosis, Failure to thrive ORPHA:500533
Peroxisome Biogenesis Disorder 10B
Nephrocalcinosis, Neurogenic bladder OMIM:617370
Fibrous Dysplasia Of Bone
Precocious puberty in females, Rickets, Increased circulating cortisol level, Osteomalacia, Corti... ORPHA:249
Enamel-Renal Syndrome
Nephropathy, Nephrocalcinosis, Hypocalciuria, Hypophosphaturia, Renal insufficiency, Impaired ren... ORPHA:1031
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Osteopenia, Nephrocalcinosis, Hydroureter, Ureteral stenosis, Large ... OMIM:615398
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Depression, Hyperphosphatemia, Hypocalcemic tetany, Autoimmune hypoparat... ORPHA:36913
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Hyposthenuria, Reduced blood ure... OMIM:300539
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Slender build, Nephrocalcinosis OMIM:611087
Oculocerebrorenal Syndrome Of Lowe
Osteomalacia, Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Motor stereotypy, Ami... ORPHA:534
Progressive Familial Intrahepatic Cholestasis
Reduced bone mineral density, Hypocalcemia, Failure to thrive ORPHA:172
Colchicine Poisoning
Oliguria, Hypomagnesemia, Renal insufficiency, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosp... ORPHA:31824
Multiple Myeloma
Nephropathy, Osteopenia, Acute kidney injury, Pathologic fracture, Elevated circulating creatinin... ORPHA:29073
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Hypocalcemia, Hypokalem... OMIM:617913
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Failure to thrive ORPHA:622
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Failure to thrive, Hypomagnesemia, Hyperechogenic kidneys, Hyperuricemia,... OMIM:613845
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Failure to thrive, Dicarboxylic aciduria, Hyperamm... OMIM:212140
Pheochromocytoma
Proteinuria, Renal artery stenosis, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171300
Hyperphenylalaninemia, Bh4-Deficient, B
Decreased urinary neopterin level, Elevated urinary sulfatide level, Lethargy, Hyperphenylalanine... OMIM:233910
Lethal Infantile Mitochondrial Myopathy
Progressive external ophthalmoplegia, Lethargy, Renal insufficiency ORPHA:254857
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Hyperphosphatemia, Hypocalcemia, Elevated circulating parathyroi... OMIM:618618
Tyrosinemia, Type I
Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Failure to thrive, ... OMIM:276700
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketonuria, Failure to thrive, Glycosuria, Hyperlipidemia, Lethargy ORPHA:2089
Pearson Marrow-Pancreas Syndrome
3-Methylglutaric aciduria, Type I diabetes mellitus, Failure to thrive, Hyperbilirubinemia, Letha... OMIM:557000
Multiple Endocrine Neoplasia Type 2
Thyroid C cell hyperplasia, Elevated circulating calcitonin concentration, Elevated circulating p... ORPHA:653
Lipoid Congenital Adrenal Hyperplasia
Renal salt wasting, Hypospadias OMIM:201710
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis, Hypophosphatemic rickets OMIM:614473
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Failure to thrive, Hyperaldosteronism, Decreased glomerular fil... OMIM:602522
Methylmalonic Acidemia With Homocystinuria
Lethargy, Failure to thrive ORPHA:26
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Elevated circulating thyroid-stimulating hormone concentration, Decr... ORPHA:95717
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Renal salt wasting, Increased circulating renin level OMIM:619406
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... ORPHA:2394
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Failure... ORPHA:97362
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Osteopenia, Nephrocalcinosis, Abnormality of the urinary system, Obesity, Joi... ORPHA:369837
Pseudohypoparathyroidism Type 1C
Pituitary resistance to thyroid hormone, Depression, Hyperphosphatemia, Elevated circulating para... ORPHA:79444
Isolated Atp Synthase Deficiency
Renal hypoplasia, Hypogonadism, Hyperammonemia, 3-Methylglutaconic aciduria, Ophthalmoplegia, Let... ORPHA:254913
Developmental And Epileptic Encephalopathy 40
Lethargy, Small for gestational age OMIM:617065
Hereditary Central Diabetes Insipidus
Lethargy, Weight loss, Polydipsia, Diabetes insipidus ORPHA:30925
Spinal Cord Injury
Hypercalcemia, Urinary retention, Urinary bladder sphincter dysfunction ORPHA:90058
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Renal insufficiency, Hyperammonemia, Lethargy, Anorexia ORPHA:79312
Early Myoclonic Encephalopathy
Lethargy, Dysphagia ORPHA:1935
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Lethargy, Dicarboxylic aciduria OMIM:615026
Vipoma
Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating cortisol level, Increased ... ORPHA:97282
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, E... OMIM:174000
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Neonatal hyperbilirubinemia, Elevated c... ORPHA:95716
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Carnitine Palmitoyltransferase I Deficiency
Ketonuria, Dicarboxylic aciduria, Renal tubular acidosis, Hyperammonemia, Elevated circulating cr... OMIM:255120
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Absence of pubertal development, Type II diabetes mellitus, Polyphagia, Pri... ORPHA:398079
Leukoencephalopathy With Vanishing White Matter 1
Lethargy, Primary amenorrhea, Premature ovarian insufficiency, Primary gonadal insufficiency, Sec... OMIM:603896
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Adrenal Hypoplasia, Congenital
Precocious puberty, Failure to thrive, Absence of pubertal development, Adrenal insufficiency, Pr... OMIM:300200
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Hypercalcemia, Self-mutilation, Aggressive behavior, Attention deficit hyperac... ORPHA:476126
Developmental And Epileptic Encephalopathy 41
Nephrocalcinosis OMIM:617105
Pontocerebellar Hypoplasia, Type 6
Poor head control, Lethargy, Failure to thrive, Elbow contracture OMIM:611523
Holocarboxylase Synthetase Deficiency
Organic aciduria, Hyperammonemia, Lethargy, Weight loss, Anorexia ORPHA:79242
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis OMIM:204690
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Ophthalmoplegia, Lethargy, Bradykinesia OMIM:618683
X-Linked Hypophosphatemia
Renal phosphate wasting, Hypocalciuria, Limitation of joint mobility, Rickets, Hypophosphatemia, ... ORPHA:89936
Gaisböck Syndrome
Nephrocalcinosis, Hypernatriuria, Obesity, Hyperuricemia, Hypercholesterolemia, Hypertriglyceride... ORPHA:90041
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating acylcarnitine concentration, Failure to thrive, Hyperammonemia, Elevated cir... OMIM:609015
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva... OMIM:615751
Combined Oxidative Phosphorylation Deficiency 2
Lethargy, Small for gestational age, Neonatal death OMIM:610498
Lesch-Nyhan Syndrome
Hyperuricosuria, Nephrocalcinosis, Hyperuricemia, Nephrolithiasis OMIM:300322
Propionic Acidemia
Hyperglycinuria, Increased level of hippuric acid in urine, Failure to thrive, Hyperglycinemia, H... OMIM:606054
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Polyphagia, Calcinosis,... ORPHA:79443
Glut1 Deficiency Syndrome 1
Paroxysmal lethargy, Lethargy OMIM:606777
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Decreased circulating cortisol level, Decreased urinary potassium, Reduced circulati... OMIM:611489
Lysinuric Protein Intolerance
Increased LDL cholesterol concentration, Hyperglycinemia, Oral aversion, Glomerulonephritis, Tubu... ORPHA:470
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Failure to thrive in infancy, Hyperprolinemia, Lethargy, Hyperalaninemia, Wide anterior fontanel OMIM:619064
Familial Glucocorticoid Deficiency
Precocious puberty, Abnormal circulating adrenocorticotropin concentration, Decreased circulating... ORPHA:361
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Neonatal hyperbilirubinemia, Depres... ORPHA:90674
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Failure to thrive, Hyperammonemia, Acute hyperammonemia, Lethargy, Hyperglutaminemia, Hyperalanin... ORPHA:927
Cyclic Vomiting Syndrome
Attention deficit hyperactivity disorder, Lethargy, Muscle weakness, Anorexia OMIM:500007
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Homocystinuria, Methylmalonic aciduria, Failure to thrive, Hypomethioninemia, Lethargy, Hyperhomo... OMIM:250940
Zollinger-Ellison Syndrome
Hyperparathyroidism, Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pi... ORPHA:913
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ophthalmoplegia, Lethargy, Increased serum pyruvate OMIM:618225
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Elevated circulating acylcarnitine concentration, External ophthalmoplegia, Failure to thrive, Ab... OMIM:615838
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Failu... ORPHA:71212
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Hyperammonemia, Hyperglutamatemia, Aggressive behavior, Hyperglutaminemia, Low... OMIM:237310
Ring Chromosome 10 Syndrome
Cachexia, Hypocalcemia, Renal hypoplasia/aplasia ORPHA:1438
Hereditary Fructose Intolerance
Chronic kidney disease, Hypermagnesemia, Renal insufficiency, Hyperuricemia, Hypophosphatemia ORPHA:469
Mitochondrial Complex I Deficiency, Nuclear Type 5
Ophthalmoplegia, Lethargy, Dysphagia, Failure to thrive OMIM:618226
3-Methylglutaconic Aciduria Type 7
Renal cyst, Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria ORPHA:445038
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Failure to thrive, Hyperornithinemia, Hyperammonemia, Lethargy, Homocitrullinuria OMIM:238970
Resistance To Thyrotropin-Releasing Hormone Syndrome
Depression, Increased circulating prolactin concentration, Decreased circulating T4 concentration... ORPHA:99832
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Failure to thrive, Stage 5 chronic kidney disease, Hyperglycinemia, Hyper... OMIM:251000
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia, Primary amenorrhea, Diabetes mellitus OMIM:612526
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Failure to thriv... ORPHA:90791
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Methylmalonic aciduria, Failure to thrive, Elevated circulating propionylcarnitin... OMIM:614857
Calciphylaxis
Stage 5 chronic kidney disease, Hyperphosphatemia ORPHA:280062
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Transient hypophosphatemia, Hypo... OMIM:127000
Monosomy 13Q34
Obesity, Hypercalcemia, Fetal pyelectasis ORPHA:96168
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased circulating carnitine concentration, Dicarboxylic aciduria, Exercise-induced myoglobinu... OMIM:201475
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Failure to thrive, Acute hyperammonemi... OMIM:210200
Magel2-Related Prader-Willi-Like Syndrome
Absence of pubertal development, Type II diabetes mellitus, Increased body weight, Polyphagia, Pr... ORPHA:398069
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lethargy, Increased serum pyruvate, Hyperalaninemia, Small for gestational age OMIM:312170
Autosomal Dominant Progressive External Ophthalmoplegia
External ophthalmoplegia, Limb muscle weakness, Ophthalmoplegia, Bradykinesia, Dysphagia, Depress... ORPHA:254892
Pearson Syndrome
Glycosuria, Hypomagnesemia, Decreased response to growth hormone stimulation test, Adrenal insuff... ORPHA:699
Meningococcal Meningitis
Stiff neck, Renal insufficiency, Lethargy, Increased circulating procalcitonin concentration, Ano... ORPHA:33475
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Microvillus Inclusion Disease
Nephrocalcinosis, Abnormal renal physiology ORPHA:2290
Hyperoxaluria, Primary, Type I
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Elevated urinary glycolic acid l... OMIM:259900
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy OMIM:618224
Familial Isolated Hypoparathyroidism
Nephropathy, Hypocalcemia ORPHA:2238
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Decreased skull ossification, Congenital hypoparathyroidism, C... ORPHA:93324
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Lethargy, Renal insufficiency, Hyperammonemia, Renal tubular dysfunction ORPHA:289916
Helix Syndrome
Hypermagnesemia, Hyperparathyroidism, Hypocalciuria, Polydipsia, Renal insufficiency, Nephrolithi... OMIM:617671
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Decreased response to growth hormone stimulation test, ... OMIM:241410
Dihydrolipoamide Dehydrogenase Deficiency
Lethargy, Increased serum pyruvate OMIM:246900
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Methylcobalamin Deficiency Type Cble
Failure to thrive, Hypomethioninemia, Lethargy, Glomerulopathy, Hyperhomocystinemia, Osteoporosis... ORPHA:2169
Glucagonoma
Depression, Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolac... ORPHA:97280
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Elevated circulating creatinine concentr... ORPHA:85450
Somatostatinoma
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:97283
Osteopetrosis, Autosomal Recessive 1
Ophthalmoparesis, Failure to thrive, Pathologic fracture, Osteomyelitis, Hypocalcemia, Femur frac... OMIM:259700
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria, Lethargy, Failure to thrive OMIM:250620
Mitochondrial Trifunctional Protein Deficiency
Lower limb muscle weakness, Failure to thrive in infancy, Progressive distal muscle weakness, Hyp... ORPHA:746
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Abnormal circulating choles... ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Abnormal circulating choles... ORPHA:168558
Ppoma
Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, Increased circulat... ORPHA:97278
Albers-Schönberg Osteopetrosis
Mandibular osteomyelitis, Osteomyelitis, Hypocalcemia, Generalized osteosclerosis, Arthritis, Ost... ORPHA:53
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Failure to thrive, Xanthelasma, Stage 5 chronic kidney disease, Hyperlipidemia,... ORPHA:79259
Leprechaunism
Nephrocalcinosis, Long penis, Central hypothyroidism, Failure to thrive, Hyperaldosteronism, Hype... ORPHA:508
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Elevated circulating thyroid-stimulating hormone concentration, Decr... ORPHA:90673
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Failure to thrive, Hyperammonemia, Lethargy, Low plasma citrulline, Hypoargininemia, Episodic amm... OMIM:237300
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, 2-ethylhydracylic aciduria OMIM:610006
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel... OMIM:131100
Opsismodysplasia
Renal phosphate wasting, Hypophosphatemia OMIM:258480
Acrodysostosis 1 With Or Without Hormone Resistance
Irregular menstruation, Unilateral renal agenesis, Hyperphosphatemia, Elevated circulating parath... OMIM:101800
Cholera
Acute kidney injury, Hypocalcemia, Hypokalemia, Hyponatremia, Lethargy, Decreased urine output, A... ORPHA:173
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Diabetes mellitus, Anorexia ORPHA:49827
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:159
Classic Glucose Transporter Type 1 Deficiency Syndrome
Lethargy ORPHA:71277
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
Grfoma
Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, Increased circulat... ORPHA:97261
Williams Syndrome
Synostosis of joints, Type II diabetes mellitus, Overfriendliness, Radioulnar synostosis, Precoci... ORPHA:904
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Depression, Rickets, Failure to thrive, Infertility, Hypocalcemia, Weig... OMIM:212750
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Hyperammonemia, Elevated circulating creatine kinase concentration, Lethar... OMIM:212138
Raine Syndrome
Hydroureter, Neonatal death, Hydronephrosis, Hypophosphatemia, Subperiosteal bone formation, Incr... OMIM:259775
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Failure to thrive OMIM:618228
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hyperglycinuria, Decreased circulating carnitine concentration, Ketonuria, Organic aciduria, Fail... OMIM:210210
Carnitine Palmitoyl Transferase 1A Deficiency
Lethargy, Transient hyperlipidemia, Renal tubular acidosis ORPHA:156
Maple Syrup Urine Disease, Type Ia
Elevated circulating branched chain amino acid concentration, Increased level of hippuric acid in... OMIM:248600
Shwachman-Diamond Syndrome 1
Steatorrhea, Nephrocalcinosis, Small for gestational age, Failure to thrive OMIM:260400
Citrullinemia Type I
Lethargy, Elevated plasma citrulline, Hyperammonemia, Failure to thrive ORPHA:247525
Gitelman Syndrome
Type II diabetes mellitus, Parathyroid adenoma, Urinary incontinence, Tubulointerstitial nephriti... ORPHA:358
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Elevated circulating 21-deoxycortisol concentration, Hypospadias OMIM:201910
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Increased urinary 11-deoxycorticosterone level, Precocious puberty, Long pe... ORPHA:90795
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Renal salt wasting OMIM:613743
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Decreased circulating carnitine concentration, Medium chain dicarboxylic aciduri... OMIM:201450
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Elevated circulating parathyroid hormone level, Rickets, Rickets... OMIM:600785
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Limited elbow flexion, Limi... ORPHA:79106
Methylmalonic Aciduria, Cbla Type
Ketonuria, Methylmalonic aciduria, Failure to thrive, Hyperglycinemia, Hyperammonemia, Elevated u... OMIM:251100
Intellectual Disability-Strabismus Syndrome
Micropenis, Medullary nephrocalcinosis, Hypospadias, Failure to thrive ORPHA:363528
Dahlberg-Borer-Newcomer Syndrome
Nephropathy, Renal insufficiency, Hypocalcemia ORPHA:1563
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypocalcemia, Hypokalemia, Cachexia, Anorexia, Muscle weakness OMIM:175500
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Hypogonadism, Decreased serum testosterone concentration, Lethargy, Decreased ... OMIM:201100
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricemia, Hyperuri... ORPHA:411536
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Poor head control, Lethargy, Hyperglycinemia, Muscle weakness OMIM:614299
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Hyperammonemia, Elevated circulating creatine kinase concentration OMIM:600649
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Increased urinary potassium, Adrenal hyperplasia, Decreased circulating renin level, ... ORPHA:231580
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Obesity, Hyperammonemia, Hypocalcemia, Elevated circ... ORPHA:26793
Generalized Pustular Psoriasis
Hypoalbuminemia, Obesity, Renal insufficiency, Hypocalcemia, Hyponatremia, Elevated circulating C... ORPHA:247353
Vitamin B12-Unresponsive Methylmalonic Acidemia
Lethargy, Renal insufficiency, Hyperammonemia ORPHA:27
Methylmalonic Aciduria, Cblb Type
Ketonuria, Methylmalonic aciduria, Failure to thrive, Elevated circulating propionylcarnitine con... OMIM:251110
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Increased total bilirubin, Elbow flexion contracture, Elevated circulating creat... OMIM:608836
Generalized Arterial Calcification Of Infancy
Nephrocalcinosis, Cortical nephrocalcinosis, Failure to thrive in infancy, Medullary nephrocalcin... ORPHA:51608
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Nephrocalcinosis, Failure to thrive OMIM:618005
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Homocystinuria, Cystathioninemia, Methylmalonic aciduria, Cystathioninuria, Elevated circulating ... OMIM:277380
Idiopathic Intracranial Hypertension
Lethargy, Depression, Obesity ORPHA:238624
Williams-Beuren Syndrome
Obsessive-compulsive trait, Radioulnar synostosis, Osteopenia, Failure to thrive in infancy, Obes... OMIM:194050
Susac Syndrome
Lethargy, Apathy, Muscle weakness ORPHA:838
Isolated Complex I Deficiency
Proximal tubulopathy, Failure to thrive, Lethargy, Poor head control, Increased serum pyruvate, D... ORPHA:2609
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Neuroleptic Malignant Syndrome
Acute kidney injury, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated cir... ORPHA:94093
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Homocystinuria, Acute kidney injury, Cystathioninemia, Methylmalonic aciduria, Cysta... OMIM:277400
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Neonatal death, Renal cyst, Lethar... OMIM:614922
Isovaleric Acidemia
Hyperglycinuria, Lethargy, Elevated urinary isovalerylglycine level OMIM:243500
Senior-Boichis Syndrome
Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Increased t... ORPHA:84081
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Hyperphosphatemia, Myoglobinuria, Hyperkalemia, Elevated creatine kinase aft... ORPHA:423
Autosomal Recessive Dopa-Responsive Dystonia
Lethargy, Bradykinesia ORPHA:101150
Sarcoidosis
Nephrocalcinosis, Renal insufficiency, Bone cyst, Nephrolithiasis, Proximal muscle weakness, Abno... ORPHA:797
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Nephrocalcinosis OMIM:616084
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Hypocalcemia, Lethargy, Micropenis, Hypospadias, Small for gestational age OMIM:607143
Citrullinemia, Classic
Failure to thrive, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Lethargy, Hypoargininemia, ... OMIM:215700
Staphylococcal Necrotizing Pneumonia
Addictive alcohol use, Lethargy, Increased circulating procalcitonin concentration, Elevated circ... ORPHA:36238
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Decreased fertility, Weight loss, Renal salt wasting, Hyperkalemia, Abnorma... ORPHA:90794
Osteogenesis Imperfecta
Osteopenia, Fractures of the long bones, Recurrent fractures, Abnormal cortical bone morphology, ... ORPHA:666
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Homocystinuria, Methylmalonic aciduria, Hypomethioninemia, Lethargy, Hyperhomocystinemia, Methylm... OMIM:277410
Gracile Bone Dysplasia
Micropenis, Hypocalcemia, Failure to thrive OMIM:602361
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Polyuria, Hypertriglyceridemia, Rena... OMIM:618183
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Congenital hypoparathyroidism, Hypoparath... ORPHA:2323
Crigler-Najjar Syndrome
Ophthalmoparesis, Lethargy ORPHA:205
Transcobalamin Ii Deficiency
Methylmalonic aciduria, Failure to thrive, Lethargy, Hyperhomocystinemia, Muscle weakness OMIM:275350
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
External ophthalmoplegia, Failure to thrive, Lethargy, Flexion contracture, Ethylmalonic aciduria OMIM:201470
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Abnormal temper tantrums, Osteopenia, Hypocalciuria, Hypophosphaturia, Joint hypermobility, Aggre... ORPHA:73223
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:226316
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Increased circulating cortisol level, Increased urinary potassium, Decreased circulating renin le... ORPHA:231625
Glycerol Kinase Deficiency
Increased urinary glycerol, Pathologic fracture, Adrenal insufficiency, Adrenocortical hypoplasia... OMIM:307030
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Renal insufficiency, Hypocalcemia, Vesicoureteral reflux, Hydronephros... ORPHA:2237
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia, Decreased skull ossification, Congenital hypoparathyroidism, Calvar... OMIM:244460
Holocarboxylase Synthetase Deficiency
Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, Hyperammonemia, Lethargy, 3-hyd... OMIM:253270
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Homocystinuria, Cystathioninemia, Failure to thrive, Lower limb muscle weakness, Hypomethioninemi... ORPHA:395
Rabson-Mendenhall Syndrome
Hypokalemia, Nephrocalcinosis, Long penis, Increased C-peptide level ORPHA:769
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Failure to thrive, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Low plasma citrulline, Leth... OMIM:311250
Beckwith-Wiedemann Syndrome
Nephropathy, Obesity, Large for gestational age, Vesicoureteral reflux, Adrenocortical cytomegaly... ORPHA:116
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno... ORPHA:83451
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Elevated circulating palmitoleylcarnitine concentration, Methylmalonic... ORPHA:79284
Argininosuccinic Aciduria
Aminoaciduria, Failure to thrive, Oroticaciduria, Hyperammonemia, Increased circulating argininos... OMIM:207900
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Ketonuria, Hyperammonemia, Hyperuricemia, Lethargy, Apathy, Weight los... ORPHA:20
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
X-Linked Agammaglobulinemia
Failure to thrive, Osteomyelitis, Hypocalcemia, Weight loss, Arthritis ORPHA:47
Sarcoidosis, Susceptibility To, 1
Hypercalciuria, Weight loss, Arthritis, Anorexia, Bone cyst OMIM:181000
Thyroid Dyshormonogenesis 1
Lethargy, Hypothyroidism, Goiter OMIM:274400
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Acute kidney injury, Oliguria, Hyperphosphatemia, Anuria, Elevated circul... ORPHA:340
Evans Syndrome
Lethargy, Muscle weakness ORPHA:1959
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Nephrocalcinosis OMIM:240300
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Hyperbilirubinemia, Lethargy, 4-Hydroxyph... OMIM:617156
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Craniofacial osteosclerosis, Increased skull ossification, Inappropriate laughter, Hypocalcemia, ... OMIM:618476
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Nephrotic syndrome, Type I diabetes mellitus, Hypomagnesemia, Failure to thrive ... ORPHA:37042
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia, Osteopetrosis, Craniosynostosis, Reduced bone mineral density, Re... ORPHA:667
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Decreased circulating iron concentration, Acute kidney injury, Impotence,... ORPHA:447
Cystic Fibrosis
Steatorrhea, Hypercalciuria, Failure to thrive, Male infertility OMIM:219700
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Infantile Liver Failure Syndrome 2
Lethargy, Hyperammonemia OMIM:616483
Pyruvate Dehydrogenase Deficiency
Lethargy, Osteolytic defects of the middle phalanx of the 4th toe ORPHA:765
Central Neurocytoma
Lethargy, Depression ORPHA:73256
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Decreased c... ORPHA:226307
Pseudoxanthoma Elasticum
Nephrocalcinosis ORPHA:758
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Small for gestational age, Failure to thrive, Elevated circulating phytanic acid con... OMIM:614866
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Cranial hyperostosis, Hyperbilirubinemia, Hypocalcemia, Osteopetrosis, Decreased oste... OMIM:259720
Cirrhosis, Familial
Increased level of propylene glycol in blood, Lethargy, Increased level of L-fucose in urine OMIM:215600
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy, Neonatal death OMIM:618232
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic tetany, Abnormal circulating follicle-stimulating hormone concent... ORPHA:93325
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Nephrocalcinosis, Hypercalciuria, Renal dysplasia OMIM:300990
Familial Tumoral Calcinosis
Nephrocalcinosis ORPHA:53715
Multifocal Atrial Tachycardia
Lethargy, Hypothyroidism ORPHA:3282
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Lethargy, Increased serum pyruvate OMIM:604377
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Abnormal circulating copper concentration, Lethargy, Abnormal circulating ... OMIM:620306
Lysosomal Acid Lipase Deficiency
Hypernatriuria, Failure to thrive, Abnormal urine potassium concentration, Xanthelasma, Hyponatre... ORPHA:275761
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Weight loss, Hypoproteinemia ORPHA:90362
Familial Mediterranean Fever
Nephropathy, Nephrotic syndrome, Nephrocalcinosis, Proteinuria ORPHA:342
Necrotizing Enterocolitis
Hyponatremia, Lethargy, Small for gestational age ORPHA:391673
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Renal cortical cysts, Vesicoureteral reflux, Nephroblastoma, Nephrolithiasis, E... OMIM:130650
Dengue Fever
Lethargy, Hypoproteinemia ORPHA:99828
Mitochondrial Complex I Deficiency, Nuclear Type 1
Failure to thrive, 3-hydroxydicarboxylic aciduria, Lethargy, Hyperalaninemia, Lacticaciduria, Poo... OMIM:252010
Ethylene Glycol Poisoning
Renal insufficiency, Hypocalcemia, Renal tubular dysfunction, Hematuria, Ophthalmoplegia, Addicti... ORPHA:31826
Basal Ganglia Disease, Biotin-Thiamine Responsive
External ophthalmoplegia, Lethargy, Facial palsy, Dysphagia OMIM:607483
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Oliguria, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kin... ORPHA:466650
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Elevated circulating palmitoleylcarnitine concentration, Ketonuria, Methylmalonic aciduria, Failu... ORPHA:79282
Biotinidase Deficiency
Lethargy, Organic aciduria, Limb muscle weakness, Hyperammonemia ORPHA:79241
Robinow Syndrome, Autosomal Recessive 1
Nephrocalcinosis, Renal duplication, Nephrolithiasis, Hydronephrosis, Micropenis, Hypospadias OMIM:268310
Encephalitis Lethargica
Urinary incontinence, Lethargy, Upper limb muscle weakness, Stiff neck ORPHA:83600
Trisomy 8P
Hydronephrosis, Nephrocalcinosis, Fetal pyelectasis, Micropenis ORPHA:264450
Rothmund-Thomson Syndrome Type 1
Abnormal trabecular bone morphology, Osteopenia, Hypogonadism, Attention deficit hyperactivity di... ORPHA:221008
Floating-Harbor Syndrome
Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Stage 5 chronic kidney disease,... ORPHA:2044
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypernatremia, Hyperglycinemia, Impulsivity, Lethargy, Hyperactivity, Agitation OMIM:620423
Scrub Typhus
Lethargy, Renal insufficiency ORPHA:83317
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Recurrent urinary tract infections, Elevated circulating creatinine concentratio... ORPHA:36234
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hydronephrosis, Micropenis, Hypoproteinemia, Hypocalcemia OMIM:235255
Biotinidase Deficiency
Lethargy, Organic aciduria, Hyperammonemia OMIM:253260
Sotos Syndrome
Decreased fertility, Hip contracture, Abnormality of the kidney, Hypospadias, Ankle flexion contr... ORPHA:821
Typhoid
Lethargy ORPHA:99745
Timothy Syndrome
Hypothyroidism, Hypocalcemia OMIM:601005
Fructose-1,6-Bisphosphatase Deficiency
Lethargy, Increased urinary glycerol OMIM:229700
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Failure to thrive, Oroticaciduria, Abnormal circulating citrulline concentration, Hyperornithinem... ORPHA:415
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hydronephrosis, Abnormal renal morphology, Micropenis, Hypoproteinemia ORPHA:1655
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Osteopenia, Increased susceptibility to fractures, Calcinosi... ORPHA:2909
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ... OMIM:218700
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Osteopenia, Rickets, Failure to thrive, Recurrent urinary tract infections, Slen... OMIM:613658
Igg4-Related Thyroid Disease
Graves disease, Euthyroid goiter, Goiter, Hypocalcemia, Hashimoto thyroiditis, Hypothyroidism, Th... ORPHA:64744
Pseudo-Torch Syndrome 2
Lethargy, Abnormal renal corticomedullary differentiation OMIM:617397
Cartilage-Hair Hypoplasia
Failure to thrive, Limited elbow extension, Hypocalcemia, Joint hypermobility, Mucopolysaccharidu... ORPHA:175
Trichinellosis
Ophthalmoplegia, Lethargy, Apathy, Facial palsy, Dysphagia, Muscle weakness ORPHA:863
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Aggressive behavior, Lethargy, Ophthalmoplegia OMIM:618321
Osteopetrosis With Renal Tubular Acidosis
Failure to thrive, Distal renal tubular acidosis, Recurrent fractures, Renal tubular acidosis, Hy... ORPHA:2785
Double Outlet Right Ventricle
Hypoparathyroidism, Hypocalcemia, Failure to thrive, Aplasia/Hypoplasia of the thymus ORPHA:3426
Marburg Hemorrhagic Fever
Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ... ORPHA:99826
Cutis Laxa, Autosomal Recessive, Type Iic
Micropenis, Nephrocalcinosis, Decreased body weight OMIM:617402
Arthrogryposis Multiplex Congenita 5
Medullary nephrocalcinosis OMIM:618947
Ogden Syndrome
Lethargy ORPHA:276432
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Hypocalcemic seizures, Osteopetrosis OMIM:612301
Cranioectodermal Dysplasia 1
Chronic kidney disease, Renal magnesium wasting, Stage 1 chronic kidney disease, Stage 5 chronic ... OMIM:218330
Infection-Related Hemolytic Uremic Syndrome
Acute kidney injury, Oliguria, Anuria, Hypocalcemia, Hyponatremia, Decreased urine output, Nephro... ORPHA:544482
Rothmund-Thomson Syndrome Type 2
Abnormal trabecular bone morphology, Osteopenia, Pathologic fracture, Synostosis involving bones ... ORPHA:221016
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Dilatation of the renal pelvis, Failure to thrive, Increased circulating ferriti... OMIM:619534
Amoebiasis Due To Free-Living Amoebae
Oculomotor nerve palsy, Intrarenal abscess, Stiff neck, Lethargy, Abnormality of the adrenal glan... ORPHA:68
Semilobar Holoprosencephaly
Depression, Central hypothyroidism, Failure to thrive, Decreased response to growth hormone stimu... ORPHA:220386
Alobar Holoprosencephaly
Depression, Central hypothyroidism, Failure to thrive, Decreased response to growth hormone stimu... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Depression, Central hypothyroidism, Failure to thrive, Decreased response to growth hormone stimu... ORPHA:93926
Lobar Holoprosencephaly
Depression, Central hypothyroidism, Failure to thrive, Decreased response to growth hormone stimu... ORPHA:93924
Kufor-Rakeb Syndrome
Generalized muscle weakness, Lethargy, Apathy, Urinary incontinence, Bradykinesia, Dysphagia ORPHA:306674
Floating-Harbor Syndrome
Nephrocalcinosis, Glandular hypospadias, Hydronephrosis, Hypospadias, Congenital posterior urethr... OMIM:136140
Doors Syndrome
Hydronephrosis, Nephrocalcinosis, Abnormality of the urinary system, Increased urine alpha-ketogl... ORPHA:79500
Ebola Hemorrhagic Fever
Lethargy, Dysphagia ORPHA:319218
22Q11.2 Deletion Syndrome
Renal hypoplasia, Depression, Failure to thrive, Multiple suture craniosynostosis, Obesity, Vesic... ORPHA:567
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Tongue thrusting OMIM:608643
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Lethargy, Failure to thrive OMIM:620233
Arima Syndrome
Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R... OMIM:243910
Craniofacioskeletal Syndrome
Hydronephrosis, Hypospadias, Hypocalcemia OMIM:300712
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia, Hydronephrosis, Micropenis, Hypospadias ORPHA:163979
Liver Disease, Severe Congenital
Aminoaciduria, Hypospadias, Failure to thrive, Increased circulating ferritin concentration, Recu... OMIM:619991
Medulloblastoma
Total ophthalmoplegia, Lethargy ORPHA:616
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Fixated interests, Hypocalcemia, Hair-pulling, Hydronephrosis, Polyphagi... OMIM:620330
Hennekam Syndrome
Horseshoe kidney, Ectopic kidney, Hypocalcemia ORPHA:2136
Velocardiofacial Syndrome
Hypoparathyroidism, Aggressive behavior, Hypocalcemia OMIM:192430
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hip contracture, Dysphagia, Thyroid hypoplasia, Hyperextensibility of the finger joints, Decrease... OMIM:619503
Complete Atrioventricular Septal Defect
Lethargy, Failure to thrive ORPHA:1329
Digeorge Syndrome
Unilateral renal agenesis, Parathyroid hypoplasia, Obesity, Renal insufficiency, Hypocalcemia, Bi... OMIM:188400
Histiocytoid Cardiomyopathy
Renal cyst, Lethargy, Failure to thrive ORPHA:137675
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Failure to thrive, Recurrent urinary tract infections ORPHA:83471
Glycine Encephalopathy
Lethargy, Hyperglycinemia ORPHA:407
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Renal insufficiency, Hyperuricemia... ORPHA:97214
Diamond-Blackfan Anemia
Renal agenesis, Horseshoe kidney, Lethargy, Hypospadias, Small for gestational age ORPHA:124
Hydranencephaly
Stiff neck, Atrophic pituitary gland, Lethargy ORPHA:2177
Charge Syndrome
Renal hypoplasia, Parathyroid hypoplasia, Renal agenesis, Aplasia/Hypoplasia of the thymus, Horse... OMIM:214800
Johanson-Blizzard Syndrome
Small for gestational age, Failure to thrive, Hypocalcemia, Increased VLDL cholesterol concentrat... OMIM:243800
Pineoblastoma
Lethargy ORPHA:251909

Histopathology

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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Slc34a1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Slc34a1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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