Gene Summary

Name:
potassium channel tetramerisation domain containing 1
Synonyms:
4933402K10Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased bone mineral density Kctd1em1(IMPC)J HOM Early adult 2.98×10-09
hyperactivity Kctd1em1(IMPC)J HOM   Early adult 8.76×10-05
decreased heart weight Kctd1em1(IMPC)J HOM Early adult 7.35×10-05

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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.

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

6 Images

Human diseases caused by Kctd1 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 Kctd1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Kctd1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Dent Disease 2
Nephrocalcinosis, Elevated circulating creatine kinase concentration, Proximal tubulopathy, Hypop... OMIM:300555
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Hypomagnesemia 3, Renal
Polydipsia, Nephrocalcinosis, Renal tubular acidosis, Hematuria, Renal calcium wasting, Nephrolit... OMIM:248250
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Leukopenia, Chronic kidney disease, Anemia, Hyperuricemia, Hypomagnesemia, Proteinu... OMIM:613845
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Anemia, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:2668
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... OMIM:308990
Distal Renal Tubular Acidosis
Paralysis, Hyperphosphaturia, Aminoaciduria, Hypokalemia, Nephrocalcinosis, Polydipsia, Proximal ... ORPHA:18
Rhabdoid Tumor
Hypercalcemia, Thrombocytopenia, Cerebral palsy, Hematuria, Anemia, Hemiplegia, Renal neoplasm ORPHA:69077
Hypercalcemia, Infantile, 2
Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Renal phosphate wasting, Medullary nephrocalci... OMIM:616963
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Anemia, Renal hypoplasia/aplasia, Thrombocytopenia, Renal insufficiency ORPHA:2123
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Medullary nephrocalcinosis, Increased circulating renin... OMIM:300971
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hyperlipidemia, Anemia, Stage 5 chronic kidney disease, Hypoa... OMIM:603278
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... OMIM:612926
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Proximal tubulopathy, Elevated alkaline phosphatase of bone origin, Hy... OMIM:613388
Wilson Disease
Hyperphosphaturia, High nonceruloplasmin-bound serum copper, Renal tubular dysfunction, Dysphagia... OMIM:277900
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Increased urinary potassium, Decreased glomerular filtration rate, Hyp... OMIM:613090
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Nephrocalcinosis, Renal calcium wasting, Nephrolithiasis, Recurrent urinary tract infections, Hyp... OMIM:248190
Preeclampsia
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Acute kidney injury... ORPHA:275555
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Microangiopathic hemolytic anemia, Prolonged neonatal jaundice, Abnormal renal ph... OMIM:274150
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Increased urinary potassium, Decreased glomerular filtration rate, Tub... OMIM:602522
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Hematuria, Decreased serum creatinine, Acute kidney injury, Ab... ORPHA:54057
East Syndrome
Renal salt wasting, Renal sodium wasting, Hypokalemia, Polydipsia, Salt craving, Hypomagnesemia, ... ORPHA:199343
Hyperparathyroidism, Neonatal Severe
Hyperphosphaturia, Hypercalcemia, Calcinosis, Aminoaciduria, Polydipsia, Anemia, Hypophosphatemia... OMIM:239200
Senior-Loken Syndrome 1
Polydipsia, Nephronophthisis, Anemia, Stage 5 chronic kidney disease, Polyuria OMIM:266900
Nephronophthisis-Like Nephropathy 2
Polydipsia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Polyur... OMIM:619468
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney disease, Microsc... OMIM:161900
Pentosuria
Abnormality of circulating enzyme level, Abnormal urine carbohydrate level, Abnormal circulating ... ORPHA:2843
Type 1 Diabetes Mellitus
Decreased level of 1,5 anhydroglucitol in serum, Polyphagia, Polydipsia, Hyperglycemia, Diabetes ... OMIM:222100
Senior-Loken Syndrome 4
Polydipsia, Nephronophthisis, Anemia, Stage 5 chronic kidney disease, Polyuria OMIM:606996
Fanconi-Bickel Syndrome
Hyperphosphaturia, Generalized aminoaciduria, Fasting hypoglycemia, Nephrocalcinosis, Renal tubul... ORPHA:2088
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen... OMIM:614817
Primary Membranoproliferative Glomerulonephritis
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insufficiency, Acute kidney injury, Mic... ORPHA:54370
Immunodeficiency 8
Hyperactivity OMIM:615401
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Myoglobinuria, Reduced aldolase level, Elevated creatine kinase after exercise, Acu... ORPHA:57
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis, Hypomagnese... OMIM:601198
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Hypercalcemia, Polyphagia, Episodic hemolytic anemia, Myoclonus, Increased... ORPHA:251004
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypokalemia, Hypomagnesemia, Renal potassium wasting, Polyuria, Renal magnesium wasting OMIM:618314
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Hypokalemia, Nephrocalcinosis, Increased urinary potassium, Increased serum prosta... OMIM:601678
Hypophosphatasia, Infantile
Hypercalcemia, Elevated urine pyrophosphate, Nephrocalcinosis, Anemia, Elevated plasma pyrophosph... OMIM:241500
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Hematuria, Anemia, Increased blood urea nitro... ORPHA:231111
Hereditary Renal Hypouricemia
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... ORPHA:94088
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Episodic hypokalemia, Nephrocalcinosis, Hypomagnesemia, Renal potassium wasting, Renal magnesium ... ORPHA:564178
Pyknoachondrogenesis
Stillbirth OMIM:265880
Blue Diaper Syndrome
Hypercalcemia, Nephrocalcinosis, Recurrent hypoglycemia, Increased proinsulin:insulin ratio, Elev... ORPHA:94086
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Nephrolithiasis, Infantile hypercalcemia, Hypercalciuria, Polyuria OMIM:143880
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Hypercalcemia, Micropenis, Hypercalciuria OMIM:614732
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Hypermagnesiuria, Hypomagnesemia ORPHA:34527
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Renal salt wasting, Renal sodium wasting, Hypokalemia, Polydipsia, Salt craving, Intention tremor... OMIM:612780
Hyperphenylalaninemia, Bh4-Deficient, D
Hyperphenylalaninemia, Tremor, Elevated urinary 7-biopterin level, Hypertonia, Transient hyperphe... OMIM:264070
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypocalcemic tetany, Myoclonic spasms, Nephrocalcinosis, Abnormal renal resorption, Hyperprostagl... ORPHA:73224
Familial Isolated Hyperparathyroidism
Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Infantile hypercalcemia, Hy... ORPHA:99879
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb... OMIM:614131
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Microangiopathic hemolytic anemia, Hyperlipidemia, Anuria, Elevated circulating c... OMIM:235400
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hyperphosphaturia, Elevated alkaline phosphatase of bone origin, Hypophosphatemia, Nephrolithiasi... ORPHA:157215
Autosomal Dominant Hypocalcemia
Nephrocalcinosis, Cortical myoclonus, Hypomagnesemia, Hypocalcemia, Hypermagnesiuria, Hypercalciu... ORPHA:428
Idiopathic Non-Lupus Full-House Nephropathy
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Elevated circulating creatinine con... ORPHA:567544
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbumi... OMIM:617609
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated hepatic transaminase, Exercise-induced myoglobinuria, Elevated creatine k... ORPHA:284426
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... OMIM:615573
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hyperlipidemia, Nephrotic syndrome, Stage 5 chronic kidney di... OMIM:600995
Infantile Bartter Syndrome With Sensorineural Deafness
Clumsiness, Hyponatremia, Hypokalemia, Nephrocalcinosis, Increased urinary potassium, Chronic kid... ORPHA:89938
Bartter Syndrome, Type 2, Antenatal
Hypokalemia, Nephrocalcinosis, Increased urinary potassium, Increased serum prostaglandin E2, Hyp... OMIM:241200
Episodic Ataxia, Type 1
Babinski sign, Elevated circulating creatine kinase concentration, Spastic gait, Tremor, Slurred ... OMIM:160120
Dent Disease
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... ORPHA:1652
Hypervitaminosis A, Susceptibility To
Hypercalcemia, Renal insufficiency OMIM:240150
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Hypercalciuria, Hypercalcemia, Nephrocalcinosis OMIM:239199
Relapsing Fever
Leukocytosis, Leukopenia, Abnormality of the urinary system, Hematuria, Elevated circulating crea... ORPHA:91547
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Hypercalciuria, Distal renal tubular acidosis, Nephrocalcinosis OMIM:602722
Dent Disease 1
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Hypophosphatemia, Nephr... OMIM:300009
Hypomagnesemia 2, Renal
Hypokalemia, Hypocalciuria, Hypomagnesemia, Renal insufficiency, Renal magnesium wasting OMIM:154020
Granulomatous Slack Skin
Hypercalcemia, Acute kidney injury, Nephrocalcinosis ORPHA:33111
Gitelman Syndrome
Paralysis, Hypokalemia, Polydipsia, Salt craving, Hypocalciuria, Hypomagnesemia, Ataxia, Renal po... OMIM:263800
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Increased phosphoribosylpyrophosphate synthetase level, Hyperuricosuria, Renal insufficiency, Hyp... ORPHA:411536
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hyperphosphaturia, Hypophosphatemia, Nephrolithiasis, Renal phosphate wasting, Hypercalciuria OMIM:612286
Paroxysmal Nocturnal Hemoglobinuria
Unconjugated hyperbilirubinemia, Chronic kidney disease, Pancytopenia, Hemosiderinuria, Hemolytic... ORPHA:447
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration, Nephrocalcinosis OMIM:211000
Lesch-Nyhan Syndrome
Dysphagia, Opisthotonus, Choreoathetosis, Megaloblastic anemia, Abnormality of extrapyramidal mot... OMIM:300322
Nephronophthisis 1
Renal tubular atrophy, Polydipsia, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticome... OMIM:256100
Galloway-Mowat Syndrome 8
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb... OMIM:618349
Primary Fanconi Renotubular Syndrome
Hypouricemia, Generalized aminoaciduria, Hypoglycemia, Renal sodium wasting, Bicarbonate-wasting ... ORPHA:3337
Hypophosphatasia, Childhood
Phosphoethanolaminuria, Elevated urine pyrophosphate, Low alkaline phosphatase, Elevated plasma p... OMIM:241510
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hyperphosphatemia ORPHA:2239
Acute Adrenal Insufficiency
Hyperkalemia, Hyponatremia, Hypercalcemia, Normocytic anemia, Hypoglycemia, Decreased urinary pot... ORPHA:95409
Small Cell Carcinoma Of The Bladder
Recurrent urinary tract infections, Hypercalcemia, Hematuria, Dysuria ORPHA:284400
Fibronectin Glomerulopathy
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematuria, Hypoalbumine... ORPHA:84090
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Exercise-induced myoglobinuria, Dark urine, Elevat... ORPHA:99845
Non-Functioning Paraganglioma
Hypercalcemia, Elevated urinary epinephrine, Hematuria, Vocal cord paralysis, Tremor, Elevated ur... ORPHA:94080
Hypophosphatemic Rickets, X-Linked Recessive
Nephrocalcinosis, Proximal tubulopathy, Hypophosphatemia, Nephrolithiasis, Renal phosphate wastin... OMIM:300554
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal tubular dysfunction, Hypophosphatemia, Renal phosphate wasting, Elevated circulating alkali... OMIM:241530
8p23.1 deletion syndrome
Atrioventricular canal defect, Hyperactivity, Atrial septal defect, Abnormal heart morphology DECIPHER:39
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Hypokalemia, Decreased circulating renin level, Hypercalciuria, Polyuria OMIM:613677
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
C3 Glomerulopathy
Nephrotic syndrome, Hematuria, Elevated circulating creatinine concentration, Stage 5 chronic kid... ORPHA:329918
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Increased phosphoribosylpyrophosphate synthetase level, Hyperuricosuria, Hyperuricemia, Ataxia, A... ORPHA:411543
Lesch-Nyhan Syndrome
Hematuria, Anemia, Hyperuricemia, Spasticity, Renal insufficiency, Hemiplegia/hemiparesis ORPHA:510
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:268200
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Hyperhomocystinemia, Neutropenia, Methylmalonic acidemia, Methylmalonic aciduria, Homocystinuria,... OMIM:614857
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... OMIM:174000
Malaria
Anemia, Hyperbilirubinemia, Acute kidney injury, Thrombocytopenia, Elevated circulating C-reactiv... ORPHA:673
Familial Hypocalciuric Hypercalcemia
Hypercalcemia, Hypocalcemic seizures, Hypomagnesiuria, Parathormone-independent increased renal t... ORPHA:405
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Hypoglycemia, Nephrotic syndrome, Stage 5 chronic kidney dise... OMIM:617575
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Iron deficiency anemia, Hypophosphatemia, Elevated circulating alkaline phosph... ORPHA:89937
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Focal segmental glomerulosclerosis, Dysphagia, Nephrotic syndrome, Myoclonus, Ga... OMIM:254900
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Idiopathic Hypercalciuria
Hypercalciuria, Renal calcium wasting, Calcium oxalate nephrolithiasis ORPHA:2197
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Oculoskeletodental Syndrome
Hypercalcemia, Mucopolysacchariduria, Renal agenesis, Splenomegaly, Hypocalcemia, Hypercalciuria OMIM:618440
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration, Reversible renal failure, Glomerulonephritis, Non-... OMIM:607665
Metaphyseal Chondrodysplasia, Jansen Type
Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Elevated circulating alkali... OMIM:156400
Hyperparathyroidism 4
Hypercalcemia, Nephrolithiasis OMIM:617343
Bartter Syndrome, Type 3
Renal salt wasting, Hypokalemia, Increased urinary potassium, Hypocalciuria, Renal potassium wast... OMIM:607364
Neuroleptic Malignant Syndrome
Hypernatremia, Extrapyramidal muscular rigidity, Elevated circulating alkaline phosphatase concen... ORPHA:94093
Nephrotic Syndrome, Type 8
Nephrotic syndrome, Thin glomerular basement membrane, Hypoalbuminemia, Chronic kidney disease, D... OMIM:615244
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Renal salt wasting, Hyponatremia, Hyperkalemia, Hypoglycemia OMIM:614736
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Anemia, Hyperins... ORPHA:230
Diffuse Alveolar Hemorrhage
Leukocytosis, Hypoxemia, Hematuria, Elevated circulating creatinine concentration, Anemia, Thromb... ORPHA:90060
Phosphoribosylpyrophosphate Synthetase Superactivity
Increased phosphoribosylpyrophosphate synthetase level, Hyperuricemia, Hyperuricosuria, Ataxia, U... OMIM:300661
Uremic Pruritus
Hypercalcemia, Elevated total serum tryptase, Stage 5 chronic kidney disease, Increased blood ure... ORPHA:94059
Nephronophthisis 4
Renal tubular atrophy, Polydipsia, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticome... OMIM:606966
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Nephrotic syndrome, Elevated circulating creatinine concentratio... ORPHA:29073
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Macroscopic hematuria, Elevated circulating creatinine concentration, Dysuria, Abnormality of ext... ORPHA:79233
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Hyperhomocystinemia, Hypomethioninemia, Methylmalonic acidemia, Increased mean corpuscular volume... OMIM:277410
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Abnormal lactate dehydrogenase... ORPHA:2134
Renal Glucosuria
Polydipsia, Polyphagia, Enuresis nocturna, Glycosuria, Polyuria OMIM:233100
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... OMIM:610725
Formiminoglutamic Aciduria
Abnormal concentration of acylcarnitine in the urine, Megaloblastic anemia, Anemia, Abnormal circ... ORPHA:51208
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nep... ORPHA:85450
Diabetes Insipidus, Neurohypophyseal, X-Linked
Polydipsia, Hydronephrosis, Polyuria, Hypokalemia OMIM:304900
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Osteopenia OMIM:608747
Juvenile Nephropathic Cystinosis
Elevated alkaline phosphatase of bone origin, Hypophosphatemia, Microscopic hematuria, Chronic ki... ORPHA:411634
Hyperphosphatemia, Polyuria, And Seizures
Polyuria, Hyperphosphatemia OMIM:239350
Addison Disease
Hyperkalemia, Hyponatremia, Hypercalcemia, Normocytic anemia, Hypoglycemia, Thiamine-responsive m... ORPHA:85138
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Tubulointerstitial fibrosis, Hypoalbumine... OMIM:614196
Hypophosphatasia
Hypercalcemia, Anemia ORPHA:436
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Renal cortical adenoma, Nephrolithiasis, Polycystic kidney dysplasia, Papillary re... OMIM:145001
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Nephrolithiasis, Hypocalciuria, Hypermagnesemia, Hypercalciuria OMIM:145980
Familial Hyperaldosteronism Type Iii
Polydipsia, Hypercalciuria, Hypokalemia ORPHA:251274
2P21 Microdeletion Syndrome
Hypoglycemia, Nephrolithiasis, Cystinuria, Hypocalcemia ORPHA:163693
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Birk-Landau-Perez Syndrome
Hyperkalemia, Tubulointerstitial nephritis, Limb hypertonia, Choreoathetosis, Oculomotor apraxia,... OMIM:617595
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Multiple small medullary renal cysts, Hypophosphatemia, Parathormone-independent i... OMIM:600740
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Myoglobinuria, Rigidity, Elevated circulating creatine kinase concentration, Hyperp... OMIM:145600
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... OMIM:615008
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Corticosterone Methyloxidase Type I Deficiency
Renal salt wasting, Hyponatremia, Increased circulating renin level, Hyperkalemia OMIM:203400
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, H... ORPHA:47159
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... OMIM:613092
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithi... OMIM:145981
Saccharopinuria
Hypercystinemia, Cystinuria, Hyperammonemia, Citrullinuria, Abnormality of circulating enzyme lev... ORPHA:3124
Nephronophthisis 11
Renal tubular atrophy, Polydipsia, Nephronophthisis, Renal corticomedullary cysts, Anemia, Stage ... OMIM:613550
Wolcott-Rallison Syndrome
Hyponatremia, Neutropenia, Elevated hepatic transaminase, Iron deficiency anemia, Hyperbilirubine... ORPHA:1667
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia, Elevated urinary epinephrine, Hematuria, Vocal cord paralysis, Glomerular sclerosi... ORPHA:276621
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Abnormal circ... ORPHA:567548
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hepatosplenomegaly, Hyperthreoninemia, Elevated circulating al... ORPHA:247598
Corticosterone Methyloxidase Type Ii Deficiency
Renal salt wasting, Hyponatremia, Increased circulating renin level, Hyperkalemia OMIM:610600
Igg4-Related Retroperitoneal Fibrosis
Hydronephrosis, Normocytic anemia, Nephrotic syndrome, Renovascular hypertension, Membranous neph... ORPHA:49041
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia, Hematuria, Nephrolithiasis, Renal insufficiency ORPHA:35710
Galloway-Mowat Syndrome 6
Proteinuria, Nephrotic syndrome, Hypoalbuminemia OMIM:618347
Immunoerythromyeloid Hypoplasia
Absent leukocyte alkaline phosphatase, Erythroid hypoplasia OMIM:242880
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Normochromic anemia, Proteinuria, Hypertriglyceridemia, ... OMIM:245900
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Decreased hemoglobin concentration, Hyperbilirubinemia, Tremor, Ataxia, Reticulocy... ORPHA:713
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Splenomegaly, Ataxia, Hypertonia, Spasticity, Hemolytic anemia, Jaundice OMIM:608885
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Babinski sign, Dysphagia, Urinary bladder sphincter dysfunction, Choreoathetosis... ORPHA:64753
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Hyponatremia, Hemoglobinuria, Unconjugated hyperbilirubinemia, Schistocytosis, Micr... ORPHA:90038
Helix Syndrome
Hypokalemia, Polydipsia, Nephrolithiasis, Hypocalciuria, Hypermagnesemia, Polyuria, Renal insuffi... OMIM:617671
Hyperprolinemia Type 1
Prolinuria, Hyperprolinemia, Proteinuria, Nephropathy ORPHA:419
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal phosphate wasting, Renal hypophosphatemia OMIM:241519
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Neutropenia, Choreoathetosis, Chorea, Anemia, Hyperammonemia, Thromboc... ORPHA:289916
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Hyperinsulinism Due To Hnf4A Deficiency
Renal Fanconi syndrome, Fasting hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating fatt... ORPHA:263455
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Aicardi-Goutieres Syndrome 9
Portal hypertension, Elevated hepatic transaminase, Anemia, Glomerular sclerosis, Stage 5 chronic... OMIM:619487
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Nephrocalcinosis, Isothenuria, Hepatosplenomegaly, Reticulocytosis, Decreased mean c... OMIM:611590
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hypoglycemia, Glutaric aciduria, Anemia, Myoclonus, Hyperammonemia, Increased level of hippuric a... OMIM:246450
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Decreased glomerular filtration rate, Nephropathy OMIM:242530
Nephrotic Syndrome, Type 11
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... OMIM:616730
Senior-Boichis Syndrome
Renal hypoplasia, Abnormal renal insterstitial morphology, Thickening of the tubular basement mem... ORPHA:84081
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting, Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting, Hypophosphatemia, Elevated circulating alkaline phosphatase concentratio... OMIM:193100
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creati... OMIM:602088
Refractory Celiac Disease
Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Elevated alkaline ... ORPHA:398063
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Hypoglycemia, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Hypoa... OMIM:251880
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia, Proteinuria, Elevated urinary norepinephrine OMIM:171420
Nephronophthisis
Renal insufficiency, Anemia ORPHA:655
Osteopetrosis, Autosomal Recessive 5
Clonus, Anemia, Decreased osteoclast count, Hyperbilirubinemia, Splenomegaly, Spastic tetraplegia... OMIM:259720
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Normochromic anemia, Elevated circulating creatinine concentration, Glomerular... ORPHA:247691
Primary Hyperoxaluria
Nephrocalcinosis, Hyperoxaluria, Calcium oxalate nephrolithiasis, Hematuria, Elevated hepatic tra... ORPHA:416
Glutathione Synthetase Deficiency
Neutropenia, Reduced glutathione synthetase level, Intention tremor, Spastic tetraparesis, Ataxia... OMIM:266130
Nephrotic Syndrome, Type 1
Renal tubular atrophy, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Glomerular... OMIM:256300
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Mildly elevated creatine kinase OMIM:614369
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Megacystis, Polyuria, Hypernatremia OMIM:125800
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephrotic syndrome, Anemia, Tremor, Hypertonia, Type I diabetes mellitus, Nephropathy, Proteinuria ORPHA:1192
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Megacystis, Polyuria, Hypernatremia OMIM:304800
Vitamin B12-Responsive Methylmalonic Acidemia
Renal insufficiency, Anemia, Hyperammonemia ORPHA:28
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hyponatremia, Elevated urinary epinephrine, Long penis, Hypochloremia, Urogenital s... ORPHA:90794
Hyperuricemia, Hprt-Related
Renal insufficiency, Nephrolithiasis, Hyperuricemia, Hyperuricosuria OMIM:300323
Cockayne Syndrome Type 1
Anemia, Lower limb spasticity, Tremor, Ataxia, Increased blood urea nitrogen, Elevated hepatic tr... ORPHA:90321
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Stage 5 chron... ORPHA:656
Al Amyloidosis
Dysphagia, Nephrotic syndrome, Anemia, Renal interstitial amyloid deposits, Increased circulating... ORPHA:85443
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Dysphagia, Polydipsia, Nephrocalcinosis, Renal cyst, Nephrolithiasis, Hypophosphat... ORPHA:99880
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hypouricemia, Generalized aminoaciduria, Renal tubular dysfunction, Hypokalemi... OMIM:227810
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Abnormal serum bile acid concentration, Elevated hepatic transaminase, Rena... ORPHA:79303
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dysphagia, Limb fasciculations, Abnormality of the urinary system, Elevated circulating creatine ... ORPHA:90117
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia OMIM:619398
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia OMIM:214700
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Leukopenia, Choreoathetosis, Anemia, Hyperammonemia, Paraparesis, Ataxia, Tetr... ORPHA:27
Trimethylaminuria
Anemia, Trimethylaminuria, Neutropenia, Splenomegaly OMIM:602079
Hypotonia-Cystinuria Syndrome
Polyphagia, Cystinuria, Nephrolithiasis, Neonatal hypoglycemia, Hypocalcemia OMIM:606407
Parathyroid Carcinoma
Hypercalcemia, Dysphagia, Polydipsia, Nephrocalcinosis, Renal cyst, Nephrolithiasis, Hypophosphat... ORPHA:143
Oculocerebrodental Syndrome
Hypercalcemia, Hypocalcemia, Nephrocalcinosis ORPHA:557003
Familial Hemophagocytic Lymphohistiocytosis
Neutropenia, Abnormal renal physiology, Anemia, Splenomegaly, Decreased liver function, Increased... ORPHA:540
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619658
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Renal salt wasting, Hyponatremia, Hyperkalemia OMIM:264350
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level, Renal sodium wasting ORPHA:556037
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Neutropenia, Anemia, Renal cyst, Hyperuricemia, Nephropathy, ... OMIM:617056
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Hypernatriuria, Decreased serum creatinine, Decreased circulating renin level OMIM:300539
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia, Elevated urinary epinephrine, Renal cell carcinoma, Hematuria, Vocal cord paralysi... ORPHA:29072
Macrophage Activation Syndrome
Neutropenia, Hepatitis, Anemia, Splenomegaly, Decreased liver function, Increased circulating fer... ORPHA:158061
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level, Renal sodium wasting ORPHA:556030
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Nephroblastoma, Elevated hepatic transaminase, Abnorma... ORPHA:158057
Alg1-Cdg
Nephrotic syndrome, Decreased liver function, Hypoalbuminemia, Renal insufficiency, Abnormality o... ORPHA:79327
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Babinski sign, Nephrocalcinosis, Renal cyst, Ataxia, Ureteral stenosis, Ankle clonus, Hypercalciuria OMIM:615398
Cystathioninuria
Cystathioninemia, Tremor, Cystathioninuria, Nephrolithiasis ORPHA:212
Mody
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemic hypoglycemia, Glucose intole... ORPHA:552
Alpha-Heavy Chain Disease
Anemia, Hypocalcemia, Splenomegaly ORPHA:100025
Adamantinoma
Hypercalcemia ORPHA:55881
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Leukopenia, Increased LDL... OMIM:267700
Autoinflammation With Infantile Enterocolitis
Anemia, Splenomegaly, Reduced natural killer cell count, Increased circulating ferritin concentra... OMIM:616050
Leishmaniasis
Leukopenia, Elevated hepatic transaminase, Anemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:507
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Infantile Myofibromatosis
Hypercalcemia, Abnormality of the kidney, Hemiplegia/hemiparesis ORPHA:2591
Cystinosis, Nephropathic
Renal Fanconi syndrome, Hyponatremia, Generalized aminoaciduria, Dysphagia, Polydipsia, Oral-phar... OMIM:219800
Pseudohypoparathyroidism, Type Ib
Low urinary cyclic AMP response to PTH administration, Hyperphosphatemia, Hypocalcemia OMIM:603233
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Elevated circulating alkaline phosphatase concentration, Renal cyst, Increased total bilirubin OMIM:174050
Cystinosis
Portal hypertension, Renal tubular dysfunction, Hypokalemia, Polydipsia, Hypophosphatemia, Stereo... ORPHA:213
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Decre... OMIM:616829
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Myoclonus, Ataxia, Diabetes mellitus, Type I diabetes mellitus, Polyuria OMIM:560000
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Chronic kidn... OMIM:123550
Mirage Syndrome
Hypospadias, Hyponatremia, Hyperkalemia, Hypoglycemia, Leukopenia, Paraplegia, Anemia, Recurrent ... OMIM:617053
Insulin-Resistance Syndrome Type B
Fasting hypoglycemia, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Hypotriglyce... ORPHA:2298
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Renal Cysts And Diabetes Syndrome
Hypospadias, Ureteropelvic junction obstruction, Diabetes mellitus, Unilateral renal agenesis, Ab... OMIM:137920
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Leukocytosis, Hyperphosphatemia, Decreased urine output, Tubulointerstitial nephrit... ORPHA:340
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Coach Syndrome 2
Hyperechogenic kidneys, Oculomotor apraxia, Elevated circulating creatinine concentration, Elevat... OMIM:619111
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Elevated hepatic transaminase, Vacuolated lymphocytes, Anemia, Bone-m... ORPHA:275761
Harderoporphyria
Hemolytic anemia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Splenomegaly, Increas... OMIM:618892
Spinal Muscular Atrophy, Jokela Type
Elevated circulating creatine kinase concentration, Fasciculations, Tremor OMIM:615048
Heme Oxygenase 1 Deficiency
Thrombocytosis, Elevated circulating C-reactive protein concentration, Asplenia, Coombs-positive ... OMIM:614034
Late-Onset Isolated Acth Deficiency
Hypercalcemia, Macrocytic anemia, Hyponatremia, Normocytic anemia, Hypoglycemia, Hepatitis, Hyper... ORPHA:199299
Autosomal Dominant Polycystic Kidney Disease
Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Nephrolithiasis, Sta... ORPHA:730
Avian Influenza
Hypoxemia, Leukopenia, Elevated circulating creatine kinase concentration, Hepatitis, Acute kidne... ORPHA:454836
Lcat Deficiency
Decreased HDL cholesterol concentration, Decreased glomerular filtration rate, Stage 5 chronic ki... ORPHA:650
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Fructose Intolerance, Hereditary
Hyperphosphaturia, Hypoglycemia, Transient aminoaciduria, Proximal tubulopathy, Hypophosphatemia,... OMIM:229600
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Glomerulopathy, Hyperhomocystinemia, Neutropenia, Increased mean corpuscular v... ORPHA:2169
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Focal segmental glomerulosclerosis, Neutropenia, Leukopenia, Nephrotic syn... OMIM:617303
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Decreased urinary potassium, Proximal renal tubular acidosis, Renal s... ORPHA:427
Oligomeganephronia
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Polydipsia, Abnor... ORPHA:2260
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Hypoalbuminemia, Histiocy... OMIM:209950
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Elevated circulating creatinine concentration, Abnormal renal corticomedullary d... OMIM:616733
Triokinase And Fmn Cyclase Deficiency Syndrome
Elevated circulating alanine aminotransferase concentration, Microcytic anemia, Hypoalbuminemia OMIM:618805
Hepatocellular Carcinoma
Thrombocytosis, Hyponatremia, Hypercalcemia, Hypoglycemia, Type II diabetes mellitus, Hypokalemia... ORPHA:88673
Hypophosphatemic Rickets
Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Hypocalciuria, Renal phosph... ORPHA:437
Coenzyme Q10 Deficiency, Primary, 1
Nephrotic syndrome, Elevated circulating creatine kinase concentration, Glomerular sclerosis, Ane... OMIM:607426
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Anisocytosis... ORPHA:98870
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Elevated circulating alkaline phosphatase concentration, Mildly elevated creatine kinase OMIM:615424
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Choreoathetosis, Anemia, Splenomegaly, Hyperammonemia, Thrombocytopenia, Renal insuf... ORPHA:79312
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentra... OMIM:614376
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Thrombocytopenia, Anemia, Hypoalbuminemia OMIM:608104
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Renal dysplasia, Hypocalcemia, Hypomagnesemia, Hypertriglyceridemia, Hypoalbuminemi... OMIM:618183
Methylmalonic Aciduria, Cbla Type
Neutropenia, Methylmalonic acidemia, Methylmalonic aciduria, Anemia, Hyperglycinemia, Hyperammone... OMIM:251100
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Nephrocalcinosis, Abnormality of the urinary system, Renal dysplasia, Congenital m... ORPHA:369837
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Hemiplegia, Leukopenia, Elevated hepatic transaminase, Anemia, Inc... OMIM:603553
Coach Syndrome 3
Renal tubular atrophy, Renal interstitial inflammation, Renal interstitial fibrosis, Nephronophth... OMIM:619113
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Proximal renal tubular acidosis, Stereotypy, Oligosacchariduria, Hypercalciuria... ORPHA:534
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia, Hypoalbuminemia, Elevated hepatic tr... OMIM:619013
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Abnormal circulating albumin concentration, Acute... ORPHA:86839
Carnitine-Acylcarnitine Translocase Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Dicarboxylic aciduria, Elevated creatine kinase a... ORPHA:159
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Cystathioninuria, Methylmalonic aciduria, Cy... OMIM:277400
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbilirubinemia, Splen... OMIM:616689
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoglycemia, Hepatic failure, Hypoalbuminemia, Elevated hepatic transaminase, Jaundice OMIM:617156
Methemoglobinemia, Beta Type
Cyanosis, Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis, Methemoglobinemia OMIM:617973
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Hypokalemia, Lacticaciduria, Hypophosphatemia, Glycosuria, Aminoacidur... OMIM:134600
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Proximal tubul... OMIM:614576
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Leukocytosis, Hyponatremia, Decreased urine output, Anuria, Hemiparesis, Acute kidn... ORPHA:544482
Aceruloplasminemia
Aceruloplasminemia, Torticollis, Chorea, Anemia, Decreased serum iron, Abnormality of extrapyrami... OMIM:604290
Bardet-Biedl Syndrome 17
Polydipsia, Poor coordination, Renal cyst, Stage 5 chronic kidney disease, Micropenis, Polyuria OMIM:615994
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly, Elevated leukocyte alkaline phosphatase OMIM:162830
Thyrotoxic Periodic Paralysis
Hyperkalemia, Paralysis, Episodic hypokalemia, Urinary retention, Respiratory paralysis, Mildly e... ORPHA:79102
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Nephrotic syndrome, Hypocholesterolemia, Proximal tubulopathy, Renal cyst, Ataxia... OMIM:212065
Galactosemia I
Hypergalactosemia, Aminoaciduria, Increased level of galactitol in urine, Increased level of gala... OMIM:230400
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Abnormal renal physiology, Elevated circulating creatinine concentration, Glomerular sclerosis, A... OMIM:223900
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Myoglobinuria, Hypercapnia, Elevated creatine kinase after exercise, Acute kidney i... ORPHA:423
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia, Ketotic hypoglycemia, Recurrent urinary tract infections, Tetraplegia... ORPHA:361
Pseudo-Torch Syndrome 3
Leukocytosis, Anemia, Increased circulating ferritin concentration, Acute kidney injury, Congenit... OMIM:618886
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Recurrent urinary ... OMIM:613095
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Hypercalcemia ORPHA:97289
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Beta-Thalassemia Intermedia
Leukocytosis, Abnormality of iron homeostasis, Erythroid hyperplasia, Elevated hepatic iron conce... ORPHA:231222
Adenine Phosphoribosyltransferase Deficiency
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... ORPHA:976
Mu-Heavy Chain Disease
Abnormal B cell count, Bence Jones Proteinuria, Anemia, Splenomegaly, Nephropathy ORPHA:100024
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Elevated hepatic transa... ORPHA:247585
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Glucose intolerance, Anemia, Splenomegaly, Elevated hepatic tran... ORPHA:75563
Beta-Ketothiolase Deficiency
Leukocytosis, Thrombocytosis, Hypoglycemia, Hyperglycemia, Extrapyramidal dyskinesia, Hyperammone... ORPHA:134
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Galactosemia
Postural tremor, Hypergalactosemia, Abnormality of extrapyramidal motor function, Speech apraxia,... ORPHA:352
Pheochromocytoma
Hypercalcemia, Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine OMIM:171300
Beta-Thalassemia
Abnormality of iron homeostasis, Hepatitis, Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic... ORPHA:848
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Stereotypy, Tremor, Urinary incontinence, Gait ataxia ORPHA:476126
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Splenomegaly, Hypercholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia,... OMIM:612526
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic anemia, Retic... ORPHA:90044
Urocanic Aciduria
Abnormal circulating histidine concentration, Urocanic aciduria, Ataxia, Truncal ataxia, Action t... ORPHA:210128
Glycogen Storage Disease Vii
Exercise-induced myoglobinuria, Increased total bilirubin, Hyperuricemia, Reticulocytosis, Reduce... OMIM:232800
Lysosomal Acid Lipase Deficiency
Decreased HDL cholesterol concentration, Leukopenia, Increased circulating lactate dehydrogenase ... OMIM:278000
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Elevated circulating creatine kinase concentration, Elevat... ORPHA:36234
Leprechaunism
Fasting hypoglycemia, Long penis, Nephrocalcinosis, Hypokalemia, Insulin resistance, Recurrent in... ORPHA:508
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Aminoaciduria, Myoclonus, Anemia OMIM:614946
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Neutropenia, Tubulointerstitial nephritis, Nephrotic syndrome, Neutro... ORPHA:37042
Gitelman Syndrome
Tubulointerstitial nephritis, Renal potassium wasting, Type I diabetes mellitus, Enuresis, Type I... ORPHA:358
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Renal tubular acidosis, Periodic hypokalemic paresis, Periodic paralysis, Hypoc... OMIM:179800
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... ORPHA:255249
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration, Abnormal renal medulla morphology,... ORPHA:439232
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Nephrocalcinosis, Hematuria, Decreased glomerular filtration rate, Ane... ORPHA:93598
Goodpasture Syndrome
Macroscopic hematuria, Anemia, Cylindruria, Cyanosis, Increased blood urea nitrogen, Erythrocyte ... OMIM:233450
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Hyperphosphatasia With Mental Retardation Syndrome 6
Elevated circulating creatine kinase concentration, Abnormal renal collecting system morphology, ... OMIM:616809
Eosinophilic Gastroenteritis
Leukocytosis, Dysphagia, Anemia, Hypoalbuminemia, Eosinophilia, Elevated circulating C-reactive p... ORPHA:2070
Hypermanganesemia With Dystonia 1
Unconjugated hyperbilirubinemia, Rigidity, Polycythemia, Abnormality of extrapyramidal motor func... OMIM:613280
Hypophosphatemic Rickets, X-Linked Dominant
Renal tubular dysfunction, Hypophosphatemia, Renal phosphate wasting, Elevated circulating alkali... OMIM:307800
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hypocalcemia, Splenomegaly ORPHA:172
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Poikilocytosis, ... OMIM:615234
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Ataxia, Hypoalbuminemia OMIM:607250
Propionic Acidemia
Propionyl-CoA carboxylase deficiency, Neutropenia, Limb hypertonia, Hypoglycemia, Anemia, Hypergl... OMIM:606054
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Decreased urine output, Elevated circulating creatinine concentration, Hyperbilirubine... ORPHA:542323
Teratoma, Pineal
Polyuria, Polydipsia, Hemiparesis OMIM:273120
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Ataxia, Spastic dysarthria, Hypoalbuminemia ORPHA:94124
Hsd10 Disease
Dysphagia, Rigidity, Abnormal urinary acylglycine profile, Choreoathetosis, Myoclonus, Tremor, At... ORPHA:391417
Nephronophthisis 3
Renal tubular atrophy, Polydipsia, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticome... OMIM:604387
Ethylene Glycol Poisoning
Hyperkalemia, Renal tubular dysfunction, Decreased urine output, Hematuria, Myoclonus, Ataxia, Re... ORPHA:31826
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Clonus, Urinary urgency, Urinary bladder sphincter dysfunction, Spastic gait, Lowe... OMIM:600363
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Cerebral palsy, Hypertonia, Hypoalbuminemia, Prolonge... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Cerebral palsy, Hypertonia, Hypoalbuminemia, Prolonge... ORPHA:529799
Myopathy, Spheroid Body
Elevated circulating creatine kinase concentration, Dysphagia, Tremor OMIM:182920
Isobutyryl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Anemia OMIM:611283
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Elevated circulating creatine kinase concentration, Decreased liver function, Ataxi... ORPHA:466650
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Myoclonic spasms, Hypocalcemic seizures, Low urinary cyclic AMP response to ... ORPHA:94089
Liddle Syndrome
Hypokalemia, Renal insufficiency, Nephropathy ORPHA:526
Pearson Syndrome
Neutropenia, Lacticaciduria, Hypophosphatemia, Splenomegaly, Diabetes mellitus, Pancytopenia, Ren... ORPHA:699
Osteopetrosis, Autosomal Recessive 1
Anemia, Splenomegaly, Increased circulating lactate dehydrogenase concentration, Facial paralysis... OMIM:259700
Colchicine Poisoning
Leukocytosis, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Oliguria, Hypocalcemia... ORPHA:31824
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Myoclonus, Anemia, Splenomegaly, Intention tremor, Hypersplenism, Thrombocyt... OMIM:610539
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Anemia, Glycosuria, Decreas... ORPHA:436271
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Nephrocalcinosis, Renal dysplasia, Anemia, Hypercalciuria, Elliptocytosis OMIM:300990
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Ketotic hypoglycemia, Glycosuria, Elevated hepatic transaminase, Postprandial hyp... ORPHA:2089
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Type II diabetes mellitus, Erythroid hyperplasia, Elevated hepatic iron concentratio... OMIM:616860
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Babinski sign, Limb fasciculations, Spastic gait, Elevated circulating alkaline phosphatase conce... ORPHA:329475
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Myoclonic spasms, Hypocalcemic seizures, Hypocalcemia, Calcium nephrolithias... ORPHA:36913
Congenital Enterovirus Infection
Leukocytosis, Neutropenia, Leukopenia, Hepatitis, Anemia, Hyperammonemia, Abnormal macrophage mor... ORPHA:292
Beckwith-Wiedemann Syndrome
Ureteral duplication, Hypoglycemia, Polycythemia, Congenital megaureter, Nephrolithiasis, Splenom... ORPHA:116
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Hyperalaninemia, Decreased liver function, Elevated gamma-glutamyltransferase level... OMIM:618329
Methylmalonic Aciduria, Cblb Type
Neutropenia, Methylmalonic acidemia, Methylmalonic aciduria, Anemia, Hyperglycinemia, Hyperammone... OMIM:251110
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Choreoathetosis, Hypercholesterolemia, Tremor, Oculomotor apraxia, Ataxia, Truncal ataxia, Hypoal... OMIM:208920
Cyanosis, Transient Neonatal
Methemoglobinemia, Anemia, Cyanosis, Reticulocytosis, Jaundice OMIM:613977
Hemochromatosis, Type 2B
Increased serum iron, Anemia, Elevated transferrin saturation, Splenomegaly, Increased circulatin... OMIM:613313
Familial Expansile Osteolysis
Hydroxyprolinuria, Elevated circulating alkaline phosphatase concentration OMIM:174810
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia, Elevated circulating alkaline phosph... OMIM:214900
Hepatoportal Sclerosis
Leukopenia, Anemia, Hyperbilirubinemia, Splenomegaly, Hypersplenism, Hypoalbuminemia, Elevated he... ORPHA:64743
Aceruloplasminemia
Involuntary movements, Aceruloplasminemia, Hypochromic microcytic anemia, Elevated hepatic iron c... ORPHA:48818
Oncogenic Osteomalacia
Hyperphosphaturia, Hypophosphatemia, Renal phosphate wasting, Elevated circulating alkaline phosp... ORPHA:352540
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase concentration, Fascic... ORPHA:52430
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... OMIM:603552
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Clonus, Hypoglycemia, Elevated circulating creatine kinase concentration, Myoclonus, Spastic tetr... OMIM:619055
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Elevated circulating alkaline phosphatase concentration, Hypocalcemia OMIM:619073
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Hemoglobinuria, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Decre... OMIM:300908
Multiple Endocrine Neoplasia Type 2
Hypercalcemia, Elevated urinary epinephrine, Elevated urinary vanillylmandelic acid, Elevated uri... ORPHA:653
Gaisböck Syndrome
Hyperproteinemia, Nephrocalcinosis, Increased red blood cell count, Increased circulating renin l... ORPHA:90041
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia, Nephrocalcinosis, Polydipsia, Abnormal urine sodi... ORPHA:320
Senior-Loken Syndrome 3
Polydipsia, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney disease, Enure... OMIM:606995
Lower Motor Neuron Syndrome With Late-Adult Onset
Dysphagia, Elevated circulating creatine kinase concentration, Fasciculations, Tremor, Tongue fas... ORPHA:276435
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia, Hand tremor, Periodic paralysis OMIM:609153
Transaldolase Deficiency
Abnormal circulating glutamine concentration, Anemia, Hepatosplenomegaly, Increased serum bile ac... ORPHA:101028
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density OMIM:259660
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypospadias, Hypochromic microcytic anemia, Anemia, Spastic tetraplegia, Hyperalaninemia, Hyperto... OMIM:619147
Anti-Glomerular Basement Membrane Disease
Hematuria, Anemia, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:375
Hyperphenylalaninemia, Bh4-Deficient, C
Dysphagia, Choreoathetosis, Myoclonus, Hyperphenylalaninemia, Tremor, Hypertonia OMIM:261630
Sarcoidosis
Portal hypertension, Hypercalcemia, Tubulointerstitial nephritis, Leukopenia, Nephrocalcinosis, I... ORPHA:797
Hemochromatosis, Type 4
Glucose intolerance, Impaired glucose tolerance, Anemia, Elevated transferrin saturation, Increas... OMIM:606069
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Anemia, Glycosuria, Decreas... OMIM:220110
Porphyria Variegata
Hyponatremia, Elevated hepatic transaminase, Porphyrinuria, Anemia, Respiratory paralysis, Increa... ORPHA:79473
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Anemia, Hypochromic anemia, Oliguria, Lymphocytosis, Increased circulating lactate ... ORPHA:514
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hypertonia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, Increased circulating inosine... OMIM:613179
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia, Cyanosis, Hypoglycemia OMIM:240200
Hyperkalemic Periodic Paralysis
Hyperkalemia, Hyponatremia, Hypokalemia, Elevated circulating creatine kinase concentration, Cere... ORPHA:682
Anemia, Congenital Dyserythropoietic, Type Iv
Erythroid hyperplasia, Anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of inade... OMIM:613673
Alg6-Cdg
Hypoalbuminemia, Ataxia, Abnormal enzyme/coenzyme activity, Decreased LDL cholesterol concentrati... ORPHA:79320
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypouricemia, Hypoglycemia, Nephrocalcinosis, Glycosuria, Diabetes mellitus, A... OMIM:616026
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Hyponatremia, Hyperkalemia, Penoscrotal hypospadias, Neonatal hypoglycemia, Renal sa... ORPHA:90791
Cog4-Cdg
Limb hypertonia, Fatal liver failure in infancy, Hypercholesterolemia, Ataxia, Hepatosplenomegaly... ORPHA:263501
Familial Isolated Hypoparathyroidism
Nephropathy, Hypocalcemia ORPHA:2238
Dilated Cardiomyopathy With Ataxia
Hypochromic microcytic anemia, Elevated hepatic transaminase, Lower limb spasticity, Neonatal hyp... ORPHA:66634
Dystonia 31
Parkinsonism, Dysphagia, Abnormal posturing OMIM:619565
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hydroxyprolinuria, Hyperuricemia, Elevated circulating alkaline phosphatase co... OMIM:239000
3-Methylglutaconic Aciduria, Type Viii
Tremor, 3-Methylglutaconic aciduria, Hypertonia, Neutropenia OMIM:617248
Cranioectodermal Dysplasia 1
Tubulointerstitial nephritis, Hepatic failure, Hypocalcemia, Chronic kidney disease, Renal magnes... OMIM:218330
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hyperphosphaturia, Renal phosphate wasting, Hypophosphatemia, Nephrolithiasis OMIM:612287
Hemochromatosis, Type 3
Increased serum iron, Neutropenia, Anemia, Elevated transferrin saturation, Increased circulating... OMIM:604250
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Cholera
Abnormality of renal excretion, Hyponatremia, Decreased urine output, Hypoglycemia, Hypokalemia, ... ORPHA:173
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Hypokalemia, Increased serum prostaglandin E2, Proximal tubulop... OMIM:241150
Sepsis In Premature Infants
Leukocytosis, Neutropenia, Anemia, Reversible renal failure, Splenomegaly, Decreased liver functi... ORPHA:90051
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced ... OMIM:618858
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Abnormality of the urinary system, Diabetic ketoacidosis, Hyperglycemia, Matur... ORPHA:99886
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... OMIM:245480
Hypokalemic Tubulopathy And Deafness
Renal salt wasting, Increased circulating renin level OMIM:619406
Sporadic Infantile Bilateral Striatal Necrosis
Babinski sign, Dysphagia, Chorea, Bradykinesia, Urinary incontinence, Resting tremor, Hemiplegia,... ORPHA:225147
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Granulocytopenia, Hemophagocytosis OMIM:608898
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Increased circulating ferritin concentration,... OMIM:618963
Albers-Schönberg Osteopetrosis
Anemia, Abnormal leukocyte morphology, Hypocalcemia ORPHA:53
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Heavy proteinuria, Leukopenia, Nephrotic syndrome, Anemia, Hepatosplenomegaly, Urinary glycosamin... ORPHA:505248
Osteopetrosis With Renal Tubular Acidosis
Hydronephrosis, Leukopenia, Distal renal tubular acidosis, Elevated circulating creatine kinase c... ORPHA:2785
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Acute Interstitial Pneumonia
Reduced hematocrit, Hypoxemia, Elevated circulating creatinine concentration, Cyanosis, Elevated ... ORPHA:79126
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated circulating crea... OMIM:616828
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Pauci-Immune Glomerulonephritis
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Elevat... ORPHA:93126
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of ina... OMIM:237800
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Chronic kidney disease, Eosinophilia, Elevated circulating C-reacti... ORPHA:449395
Osteootohepatoenteric Syndrome
Grade II vesicoureteral reflux, Hypokalemia, Anemia, Increased serum bile acid concentration, Pro... OMIM:619377
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
X-Linked Agammaglobulinemia
Neutropenia, Hepatitis, Anemia, Hypocalcemia, Thrombocytopenia ORPHA:47
Vipoma
Hypercalcemia, Hypokalemia, Normochromic anemia, Diabetes mellitus, Intrahepatic cholestasis, Int... ORPHA:97282
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Lujo Hemorrhagic Fever
Leukocytosis, Dysphagia, Leukopenia, Fulminant hepatitis, Microscopic hematuria, Oliguria, Increa... ORPHA:319213
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Neutropenia, Hypoalbuminemia OMIM:600351
Wolfram Syndrome 1
Hydronephrosis, Dysphagia, Megaloblastic anemia, Sideroblastic anemia, Tremor, Ataxia, Diabetes m... OMIM:222300
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Anemia, Hypocalcemia, Reduced proportion of CD4+ effector memory T cells, Decrea... ORPHA:90362
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Anemia, Neutrophilia, Elevated hepatic transaminase, Elevated circulating C-reactive protein conc... ORPHA:54251