Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
cullin 3
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Cul3 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 Cul3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperchloremic metabolic acidosis, Hypertension, Metabolic acidosis, Pseudohypoal... OMIM:614496
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Failure to thrive OMIM:619239

The table below shows human diseases predicted to be associated to Cul3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperchloremic metabolic acidosis, Hypertension, Metabolic acidosis, Pseudohypoal... OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperchloremic metabolic acidosis, Hypertension, Metabolic acidosis, Pseudohypoal... OMIM:614496
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperchloremic metabolic acidosis, Hypertension, Pseudohypoaldosteronism, Hyperka... OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperchloremic metabolic acidosis, Hypertension, Pseudohypoaldosteronism, Hyperka... OMIM:614495
Pseudohypoaldosteronism, Type Iia
Hypertension, Hyperkalemia, Hyperchloremic acidosis, Pseudohypoaldosteronism OMIM:145260
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hypotension, Hyperactive renin-angiotensin system, Hyponatremia, Hyperaldosteronism, Metabolic ac... OMIM:264350
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension, Hyperactive renin-angiotensin system, Hyponatremia, Increased circulating renin leve... OMIM:177735
Malignant Hyperthermia, Susceptibility To, 1
Mixed respiratory and metabolic acidosis, Hypotension, Tachycardia, Elevated circulating creatine... OMIM:145600
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Orthostatic hypotension, Hypotension, Hyponatremia, Increased ci... ORPHA:556037
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Orthostatic hypotension, Hyponatremia, Increased circ... OMIM:610600
Familial Hyperaldosteronism Type Ii
Metabolic alkalosis, Intracranial hemorrhage, Secretory adrenocortical adenoma, Epistaxis, Hypert... ORPHA:404
Generalized Pseudohypoaldosteronism Type 1
Arrhythmia, Hyponatremia, Increased circulating renin level, Glucocortocoid-insensitive primary h... ORPHA:171876
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Orthostatic hypotension, Hypotension, Hyponatremia, Increased ci... ORPHA:556030
Diarrhea 1, Secretory Chloride, Congenital
Metabolic alkalosis, Hyponatremia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Hypo... OMIM:214700
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Hypertension, Decreased circulating renin level, Hypokalemia, Metabolic acido... OMIM:613677
Familial Hypoaldosteronism
Orthostatic hypotension, Hypovolemia, Hypotension, Hyponatremia, Increased circulating renin leve... ORPHA:427
Corticosterone Methyloxidase Type I Deficiency
Hypotension, Hyponatremia, Increased circulating renin level, Decreased circulating aldosterone l... OMIM:203400
Pseudohypoparathyroidism Type 2
Hypocalcemia, Pseudohypoparathyroidism, Hypocalcemic tetany, Prolonged QT interval, Elevated circ... ORPHA:94090
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hyperalaninemia, Increased serum lactate, Failure to thrive, Hypertrophic cardiomyopathy OMIM:618250
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Lactic acidosis, Hyperkalemia, Hyperphosphatemia OMIM:154275
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Lactic acidosis, Hyperkalemia, Hyperphosphatemia OMIM:154276
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Palpitations, Metabolic alkalosis, Increased circulating cortisol level, Neoplasm of the adrenal ... ORPHA:231625
Combined Oxidative Phosphorylation Deficiency 9
Hyperalaninemia, Increased serum lactate, Failure to thrive, Hypertrophic cardiomyopathy OMIM:614582
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Myocardial infarction, Hypertension OMIM:608320
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemic se... OMIM:618883
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... ORPHA:1501
Familial Hyperaldosteronism Type Iii
Metabolic alkalosis, Intracranial hemorrhage, Epistaxis, Hypertension, Glucocortocoid-insensitive... ORPHA:251274
Apparent Mineralocorticoid Excess
Metabolic alkalosis, Hypertension, Decreased circulating renin level, Hypokalemia, Small for gest... OMIM:218030
Liddle Syndrome 3
Metabolic alkalosis, Hypokalemia, Hypertension OMIM:618126
Hyperaldosteronism, Familial, Type I
Hypertension, Hyperaldosteronism, Decreased circulating renin level, Adrenal hyperplasia, Adrenog... OMIM:103900
Pseudohypoaldosteronism Type 2
Hyperkalemia, Hypertension ORPHA:757
Pseudohypoparathyroidism, Type Ii
Pseudohypoparathyroidism, Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormo... OMIM:203330
Ectopic Aldosterone-Producing Tumor
Metabolic alkalosis, Epistaxis, Hypertension, Glucocortocoid-insensitive primary hyperaldosteroni... ORPHA:231632
Primary Unilateral Adrenal Hyperplasia
Palpitations, Metabolic alkalosis, Epistaxis, Hypertension, Glucocortocoid-insensitive primary hy... ORPHA:231580
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Secretory adrenocortical adenoma, Epistaxis, Hypertension, Abnormal circ... ORPHA:403
Combined Oxidative Phosphorylation Deficiency 10
Arrhythmia, Lactic acidosis, Increased serum lactate, Hyperalaninemia, Small for gestational age,... OMIM:614702
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hyperphos... OMIM:603233
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Metabolic alkalosis, Intracranial hemorrhage, Epistaxis, Hyperaldosteronism, Hypertension, Abnorm... ORPHA:369929
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level, Acidosis OMIM:619406
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia, Failure to thrive OMIM:143860
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Congenital hypothyroidism, Failure to thrive, Hyperkalemia, Precocious puberty OMIM:614736
Gitelman Syndrome
Hypocalcemia, Hypermagnesemia, Primary hyperaldosteronism, Delayed puberty, Abnormal T-wave, Type... ORPHA:358
Nephronophthisis 2
Pulmonary insufficiency, Elevated circulating creatinine concentration, Hypertension, Hyperkalemi... OMIM:602088
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Premature coronary artery atherosclerosis, Hypertension, Hypertriglyceridem... OMIM:615703
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Decreased circulating parathyroid hormone level, Hypoparathyroidism, Hyperphosphatemia OMIM:146200
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Congenital hypoparathyroidism, Hypomagnesemia, Parathyroid agenesis, Hyperphosphate... ORPHA:2239
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Cardiogenic shock, Arrhythmia, Hypovolemia, Hypotension, Lactic a... ORPHA:31824
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Hypocalcemia, Abnormal left ventricular function, Hypocalcemic tetany, Co... ORPHA:36913
Acute Adrenal Insufficiency
Androgen insufficiency, Adrenal hypoplasia, Orthostatic hypotension, Hypovolemia, Hypotension, Pr... ORPHA:95409
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertension, Sudden cardiac death, Hypertriglyceridemia, Myocardial infarc... OMIM:610947
Liddle Syndrome 1
Metabolic alkalosis, Hypertension, Decreased circulating renin level, Hypokalemia, Hypokalemic al... OMIM:177200
Mitochondrial Complex I Deficiency, Nuclear Type 32
Failure to thrive, Increased serum lactate, Metabolic acidosis OMIM:618252
Combined Oxidative Phosphorylation Deficiency 31
Lactic acidosis, Increased serum lactate, Hyperalaninemia, Failure to thrive, Hypertrophic cardio... OMIM:617228
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia, Hyperkalemia OMIM:141000
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Impaired cortisol response to insulin... ORPHA:361
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Lactic acidosis, Increased serum lactate, Failure to thrive, Metabolic acidosis, Low-output conge... ORPHA:91130
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperaldosteronism, Hypokalemia, Failure to thrive, Hypochloremia, Hyperchloriduria... OMIM:613090
Bartter Syndrome, Type 3
Hypokalemic metabolic alkalosis, Hypotension, Hyperactive renin-angiotensin system, Increased cir... OMIM:607364
Hypoadrenocorticism, Familial
Hyperkalemia, Adrenal insufficiency, Hyponatremia, Adrenal hypoplasia OMIM:240200
Mitochondrial Complex I Deficiency, Nuclear Type 11
Increased serum lactate, Congestive heart failure, Failure to thrive, Metabolic acidosis, Hypertr... OMIM:618234
East Syndrome
Metabolic alkalosis, Increased circulating renin level, Hyperaldosteronism, Hypokalemia, Hypomagn... ORPHA:199343
Addison Disease
Hyperuricemia, Weight loss, Delayed puberty, Hypercalcemia, Hyperkalemic metabolic acidosis, Decr... ORPHA:85138
Liddle Syndrome 2
Metabolic alkalosis, Decreased circulating renin level, Hypertension, Hypokalemia OMIM:618114
Hyperaldosteronism, Familial, Type Ii
Hypokalemia, Hypertension OMIM:605635
Malignant Hyperthermia Of Anesthesia
Ventricular extrasystoles, Ventricular tachycardia, Elevated creatine kinase after exercise, Supr... ORPHA:423
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Increased circulating androstenedione ... ORPHA:90791
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Hypertension, Myocardial infarction, Congestive heart failure, Coronary... OMIM:614473
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Hyperuricemia, Hypochloremic metabolic alkalosis, Pulmonary arterial hypertension, ... OMIM:613845
Neuroleptic Malignant Syndrome
Hypocalcemia, Arrhythmia, Hypotension, Hypernatremia, Hyponatremia, Hyperuricemia, Elevated circu... ORPHA:94093
Arterial Calcification, Generalized, Of Infancy, 1
Generalized arterial calcification, Hypophosphatemic rickets, Hypertension, Myocardial infarction... OMIM:208000
Hereditary Fructose Intolerance
Hypophosphatemia, Hypermagnesemia, Episodic hyperhidrosis, Hyperuricemia, Metabolic acidosis ORPHA:469
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia, Pancreatitis, Parathyroid adenoma, Hyperparathyroidism OMIM:145980
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Elevated circulating creatine kinase concentration, Increased serum lactate OMIM:616209
Combined Oxidative Phosphorylation Deficiency 8
Lactic acidosis, Increased serum lactate, Failure to thrive, Hypertrophic cardiomyopathy OMIM:614096
Thyrotoxic Periodic Paralysis
Palpitations, Thyrotoxicosis with toxic multinodular goiter, Graves disease, Thyrotoxicosis with ... ORPHA:79102
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Hyperalaninemia, Metabolic acidosis ORPHA:2597
Combined Oxidative Phosphorylation Deficiency 17
Lactic acidosis, Congestive heart failure, Failure to thrive, Hypertrophic cardiomyopathy OMIM:615440
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Hypertension, Hypertriglyceridemia, Type II diabetes mellitus, Childhood-onset ... ORPHA:71529
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Hypokalemic metabolic alkalosis, Low-to-normal blood pressure, Hyperactive r... OMIM:601678
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Mitochondrial Complex I Deficiency, Nuclear Type 13
Metabolic acidosis, Hypertrophic cardiomyopathy OMIM:618235
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperaldosteronism, Hypokalemia, Failure to thrive, Hypochloremia, Hyperchloriduria... OMIM:602522
Abdominal Obesity-Metabolic Syndrome 1
Hypertension, Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension, Abdominal obesity OMIM:605572
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia, Primary hyperparathyroidism, Pancreatitis OMIM:145981
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Metabolic acidosis OMIM:615026
Ethylene Glycol Poisoning
Elevated serum anion gap, Hypocalcemia, Hypotension, Lactic acidosis, Atrial fibrillation, Hypert... ORPHA:31826
Hyperkalemic Periodic Paralysis
Arrhythmia, Hyponatremia, Hypokalemia, Congestive heart failure, Elevated circulating creatine ki... ORPHA:682
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Decreased plasma free carnitine, Increased serum lactate, Hyperalaninemia, Congestive heart failu... OMIM:619048
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Pseudohypoparathyroidism, Hypocalcemic tetany, Pituitary resistance to thyroid horm... ORPHA:94089
Alpha-Ketoglutarate Dehydrogenase Deficiency
Congenital lactic acidosis, Increased serum lactate, Metabolic acidosis OMIM:203740
Uremic Pruritus
Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen ORPHA:94059
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Decreased circulating androgen concentration, Adr... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Decreased circulating androgen concentration, Adr... ORPHA:168558
Familial Pseudohyperkalemia
Hyperkalemia, Hypertension ORPHA:90044
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypercalcemia, Primary hyperparathyroidism, Pancreatitis OMIM:600740
Calciphylaxis
Arterial calcification, Secondary hyperparathyroidism, Hyperphosphatemia ORPHA:280062
Hawkinsinuria
Hypothyroidism, Failure to thrive, Abnormal circulating tyrosine concentration, Metabolic acidosis ORPHA:2118
Liddle Syndrome
Hypokalemia, Cerebral ischemia, Hypertension, Arrhythmia ORPHA:526
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypocalcemia, Hypokalemic metabolic alkalosis, Dilated cardiomyopathy, Hypocalcemic tetany, Hyper... ORPHA:73224
Hsd10 Disease, Neonatal Type
Lactic acidosis, Metabolic acidosis, Hypertrophic cardiomyopathy ORPHA:391457
Helix Syndrome
Hypohidrosis, Hypermagnesemia, Xerostomia, Hypokalemia, Anhidrosis, Hyperparathyroidism OMIM:617671
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Lactic acidosis, Hypertension, Failure to thrive OMIM:605711
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Cardiomyopathy, Metabolic ac... ORPHA:26792
Pseudohypoparathyroidism, Type Ic
Pseudohypoparathyroidism, Hypothyroidism, Hypocalcemic tetany, Elevated circulating parathyroid h... OMIM:612462
Mitochondrial Complex I Deficiency, Nuclear Type 35
Lactic acidosis, Hyperalaninemia, Elevated lactate:pyruvate ratio, Metabolic acidosis, Pulmonary ... OMIM:619003
Combined Oxidative Phosphorylation Deficiency 52
Hyperglycinemia, Hyperamylasemia, Increased serum lactate, Adrenal insufficiency, Hyperalaninemia... OMIM:619386
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Xanthelasma, Hypovolemia, Adrenal calcification, Primary adrenal insufficie... ORPHA:275761
Glycogen Storage Disease Due To Aldolase A Deficiency
Elevated creatine kinase after exercise, Arrhythmia, Hyperkalemia ORPHA:57
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperammonemia, Elevated circulating sebacic acid concentration, Increased serum pyruvate, Increa... OMIM:615160
Isolated Glycerol Kinase Deficiency
Elevated circulating creatine kinase concentration, Adrenocortical hypoplasia, Metabolic acidosis ORPHA:408
Methanol Poisoning
Intracranial hemorrhage, Inflammatory arteriopathy, Hypertension, Permanent atrial fibrillation, ... ORPHA:31825
Combined Oxidative Phosphorylation Deficiency 44
Increased serum lactate, Hypertrophic cardiomyopathy OMIM:618855
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypokalemic metabolic alkalosis, Hyperaldosteronism, Increased circulating renin level, Hypokalem... OMIM:612780
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:268200
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hyperchloremic metabolic acidosis, Hypophosphatemic rickets, Hypertension OMIM:618913
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Increased serum pyruvate, Increased serum lactate OMIM:619062
Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Hypothyroidism, Hypocalcemic tetany, Elevated circulating parathyroid h... OMIM:103580
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Increased serum lactate, Metabolic acidosis OMIM:615158
Combined Oxidative Phosphorylation Deficiency 23
Arrhythmia, Lactic acidosis, Increased serum lactate, Congestive heart failure, Cardiomyopathy OMIM:616198
Apparent Mineralocorticoid Excess
Hypokalemic metabolic alkalosis, Hypertension, Abnormality of circulating cortisol level, Decreas... ORPHA:320
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Lactic acidosis, Increased serum lactate, Hyperalaninemia, Metabolic ac... OMIM:619046
Combined Oxidative Phosphorylation Deficiency 30
Lactic acidosis, Hyperalaninemia, Increased serum lactate, Failure to thrive OMIM:616974
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Goiter, Weight loss, Hypokalemia, Tachycardia, Hyperthyroidism OMIM:613239
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Goiter, Weight loss, Hypokalemia, Tachycardia, Hyperthyroidism OMIM:188580
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Combined Oxidative Phosphorylation Deficiency 28
Increased serum pyruvate, Severe lactic acidosis, Congestive heart failure, Increased serum lactate OMIM:616794
Mirage Syndrome
Hypergonadotropic hypogonadism, Intracranial hemorrhage, Hyponatremia, Patent ductus arteriosus, ... OMIM:617053
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Hypokalemia, Metabolic acidosis, Distal renal tubular acidosis OMIM:602722
Abdominal Obesity-Metabolic Syndrome 4
Accelerated atherosclerosis, Elevated hemoglobin A1c, Coronary artery atherosclerosis, Hypertensi... OMIM:618620
Mitochondrial Complex I Deficiency, Nuclear Type 30
Congestive heart failure, Metabolic acidosis OMIM:301021
Isovaleric Acidemia
Metabolic acidosis ORPHA:33
Pyruvate Dehydrogenase Phosphatase Deficiency
Lactic acidosis, Hyperalaninemia, Increased serum lactate, Hyperprolinemia ORPHA:79246
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circulating renin l... OMIM:241150
Hypomagnesemia, Seizures, And Mental Retardation 1
Hypomagnesemia OMIM:616418
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Parathyroid hyperplasia, Hypercalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormo... OMIM:617994
Infantile Bartter Syndrome With Sensorineural Deafness
Hypokalemic metabolic alkalosis, Hyponatremia, Hyperactive renin-angiotensin system, Increased ci... ORPHA:89938
Sulfide:Quinone Oxidoreductase Deficiency
Elevated circulating creatine kinase concentration, Lactic acidosis OMIM:619221
Preeclampsia
Elevated systolic blood pressure, Elevated circulating creatinine concentration, Hypertension, Ty... ORPHA:275555
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Hydroxykynureninuria
Hypotension, Tachycardia, Metabolic acidosis OMIM:236800
Congenital Pulmonary Veins Atresia Or Stenosis
Hypertension ORPHA:3188
Bartter Syndrome, Type 2, Antenatal
Hypokalemic metabolic alkalosis, Low-to-normal blood pressure, Hyperactive renin-angiotensin syst... OMIM:241200
Gitelman Syndrome
Palpitations, Hypotension, Increased circulating renin level, Ventricular tachycardia, Delayed pu... OMIM:263800
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Diabetes mellitus, Hypertension OMIM:613877
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Hyperactive renin-angiotensin system, Hyponatremia, Increas... ORPHA:90790
3-Hydroxyisobutyric Aciduria
Lactic acidosis, Ketoacidosis, Episodic ketoacidosis, Failure to thrive OMIM:236795
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Coronary artery atherosclerosi... OMIM:613485
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Lactic acidosis, Increased serum lactate, Failure to thrive, Hype... OMIM:618378
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Increased serum lactate, Metabolic acidosis OMIM:610090
Glomerulopathy With Fibronectin Deposits 1
Hypertension, Acidosis OMIM:137950
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Lactic acidosis, Hypertrophic cardiomyopathy, Obesity OMIM:615418
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Episodic ketoacidosis, Lactic acidosis, Ketoacidosis, Increased serum lactate, Hyperammonemia OMIM:615453
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Hematochezia, Xerostomia, Hypokalemia, Cachexia, Hypomagnesemia OMIM:175500
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Abnormal aortic morphology, Hyperuricemia, Hypertension, Cardiomyopathy ORPHA:3222
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hyperchloremic metabolic acidosis, Distal renal tubular acidosis, Hypokalemia, Failure to thrive,... OMIM:611590
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Congenital hypoparathyroidism, Hyperphosphatemia, Hypocalcemic seizures, Decreased ... OMIM:241410
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Increased circulating renin level, Hypochloremia OMIM:300971
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism, Increased serum lactate, Metabolic acidosis, Elevated circulating creatine kinase... OMIM:617713
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Abnormal circulating lipid concentration, Hypertension, Congestive heart failure, Typ... ORPHA:225
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Hypomagnesemia, Episodic hypokalemia ORPHA:564178
Mitochondrial Complex I Deficiency, Nuclear Type 7
Lactic acidosis, Failure to thrive, Hypertrophic cardiomyopathy OMIM:618229
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Pancreatitis, Infantile hypercalcemia, Hy... ORPHA:405
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma, Hypertension OMIM:618464
Mitochondrial Myopathy, Infantile, Transient
Decreased plasma carnitine, Lactic acidosis, Increased serum pyruvate, Increased serum lactate, F... OMIM:500009
Hyperphosphatasia With Mental Retardation Syndrome 3
Hyperphosphatemia OMIM:614207
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Abnormal pulse pressure, Hypotension, Lactic acidosis, Sinus tachycardia, ST segmen... ORPHA:466650
Combined Oxidative Phosphorylation Deficiency 16
Increased serum lactate, Hypertrophic cardiomyopathy OMIM:615395
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Ketoacidosis, Hypertriglyceridemia, Adrenal insufficiency, Small for g... OMIM:307030
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Lactic acidosis, Increased serum lactate, Pulmonary arterial hypertens... OMIM:616299
Autosomal Dominant Hypocalcemia
Hypocalcemia, Arrhythmia, Hypotension, Congestive heart failure, Hypomagnesemia, Hyperphosphatemia ORPHA:428
2P21 Microdeletion Syndrome
Lactic acidosis, Hypogonadism, Failure to thrive, Hypocalcemia ORPHA:163693
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hematochezia, Hypothyroidism, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, ... OMIM:618183
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron, Chr... OMIM:603358
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lactic acidosis, Failure to thrive, Hypertrophic cardiomyopathy OMIM:618228
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Lactic acidosis, Increased serum lactate, Failure to thrive, Hyperammonemia, Hypertrophic cardiom... OMIM:604273
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Hypertension OMIM:161900
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Lactic acidosis, Arrhythmia, Patent ductus arteriosus, Hypertension OMIM:617021
Focal Segmental Glomerulosclerosis 1
Hypertension, Hypoalbuminemia, Hyperlipidemia OMIM:603278
Triokinase And Fmn Cyclase Deficiency Syndrome
Lactic acidosis, Failure to thrive in infancy, Reduced systolic function, Hypoalbuminemia, Pancre... OMIM:618805
Pyruvate Dehydrogenase E3 Deficiency
Decreased plasma carnitine, Elevated plasma branched chain amino acids, Lactic acidosis, Abnormal... ORPHA:2394
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Myocardial infarction, Supraventricular tachycardia, Abnormality o... ORPHA:90064
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Coronary artery atherosclerosis, Acute pancreatitis, Hypertr... OMIM:608600
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia, Elevated circulating parathyroid hormone level OMIM:619073
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Wolff-Parkinson-White syndrome, Lactic acidosis, Abnormal left ventricular function, ... OMIM:540000
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Increased serum pyruvate, Increased serum lactate OMIM:619224
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Goiter, Abnormal calcium-phosphate regulating hormone level, Neoplasm of the thyroid gland, Hyper... ORPHA:457059
Birk-Landau-Perez Syndrome
Hyperkalemia OMIM:617595
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Elevated circulating creatinine conce... ORPHA:97292
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia OMIM:608885
Acetyl-Coa Acetyltransferase-2 Deficiency
Increased serum pyruvate, Increased serum lactate OMIM:614055
Pyridoxal Phosphate-Responsive Seizures
Abnormal circulating histidine concentration, Hypoargininemia, Abnormal circulating threonine con... ORPHA:79096
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Lactic acidosis, Hypertrophic cardiomyopathy OMIM:617184
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, Hypocalcemic tetany, Obes... ORPHA:79444
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Coronary artery stenosis, Hypertension, Myocardial infarction, Truncal obes... OMIM:615812
Coenzyme Q10 Deficiency, Primary, 5
Lactic acidosis, Hyperalaninemia, Increased serum lactate, Bradycardia OMIM:614654
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Lactic acidosis, Hypertrophic cardiomyopathy OMIM:614053
Galactosemia I
Increased level of galactitol in red blood cells, Hypergonadotropic hypogonadism, Increased level... OMIM:230400
Mitochondrial Complex I Deficiency, Nuclear Type 22
Lactic acidosis, Hypertrophic cardiomyopathy OMIM:618243
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hypokalemia OMIM:618314
Mitochondrial Complex I Deficiency, Nuclear Type 24
Increased serum lactate OMIM:618245
Familial Cervical Artery Dissection
Carotid artery dilatation, Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Hypertension, ... ORPHA:36382
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lactic acidosis, Ketoacidosis, Increased serum lactate, Respiratory alkalosis, Hyperalaninemia, M... OMIM:615751
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypouricemia, Chronic acidosis, Hypokalemia, Failure to thrive, Acidosis OMIM:227810
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia, Failure to thrive OMIM:616963
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Lactic acidosis, Increased serum lactate, Failure to thrive, Abnormal circulating pyruvate family... ORPHA:255182
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy, Lactic acidosis, Ketoacidosis, Elevated circulating creatine kinase conce... OMIM:618120
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, Hypocalcemic tetany, Hype... ORPHA:79443
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Takayasu Arteritis
Hypertensive crisis, Vascular dilatation, Weight loss, Hypertension, Myocardial infarction, Hyper... ORPHA:3287
Diabetes Insipidus, Neurohypophyseal Type
Alkalosis, Hypokalemia, Central diabetes insipidus OMIM:304900
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Lactic acidosis, Increased serum lactate, Hypertrophic cardiomyopathy OMIM:604377
Developmental And Epileptic Encephalopathy 53
Elevated circulating creatine kinase concentration, Increased serum lactate OMIM:617389
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level, Decreased circulating aldosterone level, Hypertension OMIM:605115
Necrotizing Enterocolitis
Hypotension, Hyponatremia, Increased serum lactate, Small for gestational age, Metabolic acidosis... ORPHA:391673
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Cardiomyopathy, Episodic metabolic acidosis, Failure to thrive OMIM:201470
Malignant Hyperthermia, Susceptibility To, 4
Acidosis OMIM:600467
Combined Oxidative Phosphorylation Deficiency 45
Increased serum lactate, Cardiac arrest, Failure to thrive OMIM:618951
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Sudden cardiac death, Abnormal T-wave, Hypokalemia, S... ORPHA:101016
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Lactic acidosis, Decreased circulating ferritin concentration ORPHA:330054
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Lactic acidosis, Increased serum lactate, Tricuspid regurgitation, Hyperalaninemia, Metabolic aci... OMIM:619051
Combined Oxidative Phosphorylation Deficiency 43
Elevated circulating creatine kinase concentration, Increased serum lactate, Small for gestationa... OMIM:618851
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced ejection fraction, Aortic regurgitation, Lactic acidosis, Patent ductus arteriosus, Tricu... OMIM:616501
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Vascular calcification, Hyperphosphatemia OMIM:211900
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hypertension, Hypertriglyceridemia, Abnormal circulating hormone concentration,... ORPHA:280356
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Increased serum lactate, Metabolic acidosis OMIM:618528
Sudden Cardiac Failure, Infantile
Congestive heart failure, Metabolic acidosis, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy OMIM:617222
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism OMIM:613743
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension ORPHA:2820
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Increased serum pyruvate, Increased serum lactate, Hypertension, Congestive heart failure, Dilate... ORPHA:1349
Preeclampsia/Eclampsia 1
Hypertension OMIM:189800
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Metabolic alkalosis, Hypertension, Decreased circulating renin level, Hypokalemia, Pulmonary arte... OMIM:615474
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Weight loss, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Dihydrolipoamide Dehydrogenase Deficiency
Lactic acidosis, Metabolic acidosis, Hypertrophic cardiomyopathy OMIM:246900
Combined Oxidative Phosphorylation Deficiency 19
Lactic acidosis, Failure to thrive OMIM:615595
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Prominent veins on trunk, Pituitary prolactin cell adenoma,... ORPHA:97289
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Elevated circulating creatine kinase concentration, Lactic acidosis, Hyperammonemia, Increased se... OMIM:618416
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Lactic acidosis, Hyperalaninemia, Increased serum pyruvate, Metabolic acidosis OMIM:245349
Cirrhosis, Familial
Pulmonary arterial hypertension, Hypertension, Increased level of propylene glycol in blood OMIM:215600
Rhabdoid Tumor
Hypertension, Internal hemorrhage, Hypercalcemia, Weight loss ORPHA:69077
Pearson Syndrome
Hypophosphatemia, Hypocalcemia, Exocrine pancreatic insufficiency, Cardiac conduction abnormality... ORPHA:699
Sanjad-Sakati Syndrome
Hypocalcemia, Congenital hypoparathyroidism, Hypoparathyroidism, Hyperphosphatemia ORPHA:2323
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Transient hypophosphatemia, Small for gestational age, Hypoparathyroidism, Hyperpho... OMIM:127000
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia OMIM:154020
Lcat Deficiency
Hypertriglyceridemia, Hypertension, Atherosclerosis ORPHA:650
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Hypertension, Coronary artery atherosclerosis, Pancreatitis, Diabetes mellitus ORPHA:79084
Hydroxykynureninuria
Hypotension, Renal tubular acidosis, Tachycardia, Metabolic acidosis, Abnormal circulating trypto... ORPHA:79155
Mitochondrial Complex I Deficiency, Nuclear Type 14
Lactic acidosis, Increased serum lactate, Hypertrophic cardiomyopathy OMIM:618236
Acrodysostosis 1 With Or Without Hormone Resistance
Decreased growth hormone responses to growth hormone-releasing hormone challenge, Elevated circul... OMIM:101800
Combined Oxidative Phosphorylation Deficiency 2
Small for gestational age, Lactic acidosis, Increased serum lactate, Patent ductus arteriosus OMIM:610498
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Hyperuricemia, Hydroxyprolinemia OMIM:239000
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia, Acidosis OMIM:134600
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Lactic acidosis, Increased serum lactate, Proximal renal tubular acidos... OMIM:266150
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Lactic acidosis, Failure to thrive, Cachexia, Weight loss OMIM:612075
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Metabolic alkalosis, Increased circulating cortisol level, Abno... ORPHA:786
Pyruvate Dehydrogenase E1-Beta Deficiency
Lactic acidosis, Hyperammonemia OMIM:614111
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma, Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Hy... OMIM:171420
Combined Oxidative Phosphorylation Deficiency 37
Lactic acidosis, Increased serum lactate, Hyperalaninemia, Failure to thrive, Hypertrophic cardio... OMIM:618329
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Intermittent lactic acidemia, Postprandial hyperlactemia, Delayed puberty, Failure to thrive, Hyp... ORPHA:369
3-Methylglutaconic Aciduria Type 4
Lactic acidosis, Cardiomyopathy, Failure to thrive ORPHA:67048
Methylmalonyl-Coa Epimerase Deficiency
Failure to thrive, Methylmalonic acidemia, Metabolic acidosis OMIM:251120
Non-Functioning Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Episodic hyperhidrosis, Positive reg... ORPHA:94080
Mitochondrial Complex I Deficiency, Nuclear Type 15
Failure to thrive, Metabolic acidosis, Hypertrophic cardiomyopathy OMIM:618237
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Mildly elevated creatine kinase, Prolonged QTc interval, Syncope, Cardiog... ORPHA:66529
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Arrhythmia, Overweight, Dilated cardiomyopathy, Ventricular tachyc... ORPHA:26793
Primary Membranoproliferative Glomerulonephritis
Myocardial infarction, Hypoalbuminemia, Hypertension ORPHA:54370
Mitochondrial Complex I Deficiency, Nuclear Type 34
Lactic acidosis, Metabolic acidosis OMIM:618776
Pyruvate Dehydrogenase E1-Alpha Deficiency
Severe lactic acidosis, Increased serum lactate, Chronic lactic acidosis, Small for gestational a... OMIM:312170
Mitochondrial Pyruvate Carrier Deficiency
Increased serum pyruvate, Lactic acidosis, Increased serum lactate OMIM:614741
Epilepsy, Early-Onset, Vitamin B6-Dependent
Metabolic acidosis OMIM:617290
Mitochondrial Complex I Deficiency, Nuclear Type 25
Lactic acidosis, Failure to thrive OMIM:618246
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Lactic acidosis, Increased serum lactate OMIM:616111
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Hypomagnesemia, Obesity ORPHA:34527
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Intracranial hemorrhage, Subarachnoid hemorrhage, Cerebral ... ORPHA:231160
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Telangiectases producing 'marbled' skin, Hypertension OMIM:206570
Combined Oxidative Phosphorylation Deficiency 34
Lactic acidosis, Hypogonadism, Failure to thrive, Primary adrenal insufficiency OMIM:617872
Cystinosis
Hypophosphatemia, Nephrogenic diabetes insipidus, Hypothyroidism, Delayed puberty, Hypokalemia, T... ORPHA:213
Glucocorticoid Resistance, Generalized
Metabolic alkalosis, Hypertension OMIM:615962
Combined Oxidative Phosphorylation Deficiency 1
Elevated lactate:pyruvate ratio, Increased serum lactate, Metabolic acidosis OMIM:609060
Adult Acute Respiratory Distress Syndrome
Hypotension, Diabetic ketoacidosis, Shock, Metabolic acidosis, Vasculitis, Pancreatitis ORPHA:70578
Mitochondrial Complex I Deficiency, Nuclear Type 3
Metabolic acidosis OMIM:618224
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Hsd10 Mitochondrial Disease
Lactic acidosis, Metabolic acidosis, Hypertrophic cardiomyopathy OMIM:300438
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Polyarteritis Nodosa
Pericarditis, Raynaud phenomenon, Weight loss, Hypertension, Elevated circulating C-reactive prot... ORPHA:767
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Hypokalemic alkalosis, Hypertension, Adrenogenital syndrome OMIM:202110
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia, Congenital hypoparathyroidism OMIM:244460
Mitochondrial Myopathy With Lactic Acidosis
Increased serum pyruvate, Lactic acidosis, Hyperalaninemia, Increased serum lactate OMIM:251950
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Lactic acidosis, Hypertrophic cardiomyopathy ORPHA:1369
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Hypertension, Increased circulating ACTH level, Hypokalemia, Abdominal obesity... OMIM:219090
Multiple Mitochondrial Dysfunctions Syndrome 5
Elevated circulating creatine kinase concentration, Increased serum lactate OMIM:617613
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Small for gestational age, Hypertension OMIM:616733
Fibronectin Glomerulopathy
Cerebral hemorrhage, Hypoalbuminemia, Hypertension ORPHA:84090
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Hyperglycinemia, Lactic acidosis, Increased serum lactate, Hyperalaninemia, Pulmonary arterial hy... OMIM:619059
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Parathyroid adenoma, Hypercalcemia, Primary hyperparathyroidism, Elevated circu... ORPHA:99879
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Moyamoya Disease With Early-Onset Achalasia
Moyamoya phenomenon, Raynaud phenomenon, Hypertension ORPHA:401945
Combined Oxidative Phosphorylation Deficiency 5
Increased serum lactate, Metabolic acidosis, Hypertrophic cardiomyopathy OMIM:611719
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Increased circulating ferritin concentration, Lactic acidosis, Increased serum lactate, Delayed p... OMIM:600462
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Hypertension, Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:1345
Cholera
Hypocalcemia, Hypotension, Lactic acidosis, Hyponatremia, Abnormal blood ion concentration, Hypok... ORPHA:173
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Ketoacidosis, Methylmalonic acidemia, Failure to thrive, Acidosis ORPHA:289504
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Hyperuricemia, Insulin-resistant diabetes mellitus, Hyperten... OMIM:604367
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Mildly elevated creatine kinase, Increased serum lactate ORPHA:457050
Beta-Ketothiolase Deficiency
Hypotension, Ketoacidosis, Increased serum lactate, Hyperuricemia, Weight loss, Hypertension, Met... ORPHA:134
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertension, Coronary artery atherosclerosis, Type I diabetes mellitus, Cerebral artery atherosc... ORPHA:1192
Hyperglycinemia, Lactic Acidosis, And Seizures
Lactic acidosis, Increased serum lactate, Hypertrophic cardiomyopathy OMIM:614462
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Hypergonadotropic hypogonadism, Lactic acidosis, Failure to thrive, Decreased respo... OMIM:606407
Aapoaiv Amyloidosis
Cardiac conduction abnormality, Abnormal cardiac ventricular function, Elevated circulating creat... ORPHA:439232
Liver Failure, Infantile, Transient
Lactic acidosis, Hyperbilirubinemia, Increased serum lactate OMIM:613070
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Increased serum pyruvate, Increased serum lactate OMIM:545000
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Lactic acidosis, Increased serum lactate, Failure to thrive, Hypertrophic cardiomyopathy OMIM:613561
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension, Failure to thrive OMIM:616069
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Glomerulopathy With Fibronectin Deposits 2
Hypertension, Generalized distal tubular acidosis OMIM:601894
Gracile Syndrome
Increased circulating ferritin concentration, Decreased transferrin saturation, Lactic acidosis, ... ORPHA:53693
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Grange Syndrome
Hypertension, Patent ductus arteriosus, Arterial stenosis, Aortic regurgitation ORPHA:79094
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hyponatremia, Hypertensive crisis, Hypertension, Pancreatitis, Myocarditis, Diabete... ORPHA:544482
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Premature pubarche, Premature adrenarche, El... ORPHA:90795
Acyl-Coa Dehydrogenase 9 Deficiency
Decreased plasma carnitine, Dilated cardiomyopathy, Lactic acidosis, Increased serum lactate, Cer... ORPHA:99901
Leprechaunism
Hyperinsulinemia, Central hypothyroidism, Hyperaldosteronism, Increased circulating renin level, ... ORPHA:508
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Ischemic stroke, Hypothyroidism, ST segment depression, Hypopituitarism, Hy... ORPHA:90065
Lactase Deficiency, Congenital
Metabolic acidosis OMIM:223000
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Moyamoya phenomenon, Ischemic stroke, Hypergonadotropic hypogonadism, Coronary artery atheroscler... ORPHA:280679
Cushing Disease
Hypertension, Telangiectasia of the skin, Truncal obesity, Hypokalemia, Failure to thrive, Diabet... ORPHA:96253
Pulmonary Hypertension, Primary, 1
Right ventricular failure, Pulmonary aterial intimal fibrosis, Pulmonary arterial medial hypertro... OMIM:178600
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephrogenic diabetes insipidus, Conjugated hyperbilirubinemia, Renal tubular acidosis, Failure to... OMIM:613404
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Elevated circulating creatine kinase concentration, Increased serum lactate OMIM:617069
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Precocious ... OMIM:202010
Propionic Acidemia
Hyperglycinemia, Lactic acidosis, Cerebellar hemorrhage, Metabolic acidosis, Pancreatitis, Failur... OMIM:606054
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Pulmonary arterial hypertension, Patent ductus arteriosus, Small for gestational age, Hypertension OMIM:613355
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Stress/infection-induced lactic acidosis, Lactic acidosis, Small for gestational age, Persistent ... OMIM:618775
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypovolemia, Hypouricemia, Hypothyroidism, Elevated circulating c... ORPHA:411634
Combined Oxidative Phosphorylation Deficiency 4
Lactic acidosis, Hyperammonemia, Increased serum lactate, Metabolic acidosis OMIM:610678
Mitochondrial Complex I Deficiency, Nuclear Type 16
Lactic acidosis, Adrenal insufficiency, Failure to thrive OMIM:618238
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hyperammonemia, Metabolic acidosis OMIM:618253
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Pseudohypoparathyroidism, Obesity, Congenital hypothyroidism, Elevated circulating ... ORPHA:280651
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Premature pubarche, Lactic acidosis, Hypothyroidism, Increased serum lactate,... OMIM:616878
Combined Oxidative Phosphorylation Deficiency 47
Failure to thrive, Increased serum lactate, Metabolic acidosis OMIM:618958
Diarrhea 4, Malabsorptive, Congenital
Hyperchloremic metabolic acidosis, Failure to thrive OMIM:610370
Perrault Syndrome 5
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Hypergonadotropic h... OMIM:616138
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Coronary artery aneurysm, Abnormal left ventricular function, Cerebral arte... ORPHA:391665
Lethal Infantile Mitochondrial Myopathy
Severe lactic acidosis, Cardiomyopathy ORPHA:254857
Sengers Syndrome
Increased serum lactate, Hypertrophic cardiomyopathy, Exercise-induced lactic acidemia OMIM:212350
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Parathyroid hyperplasia, Hypophosphatemic rickets, Hypercalcemia, Elevated circ... OMIM:612089
Fanconi-Bickel Syndrome
Hypophosphatemia, Renal tubular acidosis, Hypertriglyceridemia, Metabolic acidosis, Failure to th... ORPHA:2088
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism, Mildly elevated creatine kinase, Increased serum lactate ORPHA:663
Extracranial Carotid Artery Aneurysm
Arterial fibromuscular dysplasia, Arteritis, Subarachnoid hemorrhage, Arteriosclerosis, Atheroscl... ORPHA:494424
Infantile Nephropathic Cystinosis
Hypophosphatemia, Hyperchloremic metabolic acidosis, Abnormal blood ion concentration, Hypokalemi... ORPHA:411629
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Dilated cardiomyopathy, Lactic acidosis, Elevated circulating acylcarnitine concentra... OMIM:609015
Aortic Aneurysm, Familial Thoracic 4
Ascending aortic dissection, Aortic regurgitation, Patent ductus arteriosus, Posterior cerebral a... OMIM:132900
Mitochondrial Complex I Deficiency, Nuclear Type 8
Lactic acidosis, Increased serum lactate, Pancreatitis OMIM:618230
Pearson Marrow-Pancreas Syndrome
Lactic acidosis, Type I diabetes mellitus, Small for gestational age, Metabolic acidosis, Renal F... OMIM:557000
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610489
Mitochondrial Complex I Deficiency, Nuclear Type 17
Lactic acidosis, Increased serum lactate OMIM:618239
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Lactic acidosis, Bradycardia, Hypertrophic cardiomyopathy OMIM:618815
Hypomagnesemia 3, Renal
Renal tubular acidosis, Hypomagnesemia, Hyperuricemia, Failure to thrive OMIM:248250
Combined Oxidative Phosphorylation Deficiency 42
Elevated circulating creatine kinase concentration, Lactic acidosis, Decreased circulating cortis... OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40
Elevated circulating creatine kinase concentration, Lactic acidosis, Decreased circulating cortis... OMIM:618835
Sneddon Syndrome
Intracranial hemorrhage, Arterial stenosis, Hypertension ORPHA:820
Renal Tubular Acidosis Iii
Hypokalemia, Bicarbonate-wasting renal tubular acidosis OMIM:267200
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration, Hypertension ORPHA:567544
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Elevated circulating creatine kinase concentration, Lactic acidosis OMIM:609560
Pparg-Related Familial Partial Lipodystrophy
Maternal diabetes, Prominent veins on trunk, Hyperuricemia, Coronary artery atherosclerosis, Athe... ORPHA:79083
Tricarboxylic Acid Cycle, Defect Of
Persistent lactic acidosis OMIM:275370
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Lactic acidosis, Failure to thrive in infancy OMIM:619065
Barth Syndrome
Arrhythmia, Intermittent lactic acidemia, Congestive heart failure, Failure to thrive, Dilated ca... OMIM:302060
Pheochromocytoma
Pheochromocytoma, Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Hy... OMIM:171300
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypoammonemia, Hypercholesterolemia, Abnormal calcium-phosphate regulating horm... ORPHA:534
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Failure to thrive, Metabolic acidosis OMIM:220120
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Increased serum lactate, Patent ductus arteriosus, Bradycardia OMIM:616276
Phenformin 4-Hydroxylation
Lactic acidosis OMIM:261590
Lessel-Kubisch Syndrome
Hypogonadism, Hypertension OMIM:618681
Myopathy With Lactic Acidosis, Hereditary
Elevated circulating creatine kinase concentration, Lactic acidosis, Increased serum lactate, Pal... OMIM:255125
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Aortic regurgitation, Patent ductu... ORPHA:229
Iga Nephropathy, Susceptibility To, 3
Hypertension OMIM:616818
Nelson Syndrome
Increased urinary cortisol level, Secondary hypercortisolism, Increased circulating cortisol leve... ORPHA:199244
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Intermittent claudication, Renovascular hypertension, Myocardia... OMIM:135580
Glutaric Aciduria Iii
Hypertension, Goiter, Hyperthyroidism, Failure to thrive OMIM:231690
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hypertension, Macronodular adrenal hyperplasia, Truncal obesity, Failure to thrive, Diabetes mell... ORPHA:189427
Iga Nephropathy, Susceptibility To, 2
Hypertension OMIM:613944
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Hypertension, Increased body weig... OMIM:615830
Succinic Acidemia
Lactic acidosis OMIM:600335
Peripartum Cardiomyopathy
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Obesity, Cardiogenic shock, Reduce... ORPHA:563
Potocki-Shaffer Syndrome
Hypothyroidism, Delayed puberty, Hypertension ORPHA:52022
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Arrhythmia, Lactic acidosis, Increased serum lactate, Hypertension, Hyperalaninemia, Small for ge... OMIM:614052
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Lactic acidosis, Hyperammonemia, Increased serum lactate, Failure to thrive OMIM:614739
Hsd10 Disease, Infantile Type
Lactic acidosis, Increased serum lactate, Metabolic acidosis, Hyperammonemia, Hypertrophic cardio... ORPHA:391428
Hawkinsinuria
Failure to thrive, Metabolic acidosis, Hypertyrosinemia OMIM:140350
Mitochondrial Myopathy, Lethal, Infantile
Lactic acidosis OMIM:551000
Glycogen Storage Disease Ic
Xanthelasma, Spider hemangioma, Chronic pancreatitis, Lactic acidosis, Hyperuricemia, Hypertensio... OMIM:232240
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Lactic acidosis, Decreased circulating cortis... OMIM:618838
Autosomal Dominant Kenny-Caffey Syndrome
Abnormal circulating follicle-stimulating hormone concentration, Hypocalcemic tetany, Congenital ... ORPHA:93325
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Thyroiditis, Hypothyroidism, Abnormal blood ion concent... ORPHA:37042
Focal Segmental Glomerulosclerosis 5
Hypertension OMIM:613237
Focal Segmental Glomerulosclerosis 2
Hypertension OMIM:603965
Moyamoya Disease 6 With Or Without Achalasia
Ischemic stroke, Raynaud phenomenon, Hypertension, Achalasia OMIM:615750
Primary Lipodystrophy
Angina pectoris, Hypertension, Type IV atherosclerotic lesion, Congestive heart failure, Pancreat... ORPHA:90970
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Elevated circulating creatine kinase concentration, Increased serum lactate, Small for gestationa... OMIM:619054
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hyperglycinemia, Lactic acidosis, Hyperhidrosis, Elevated lactate:pyruvate ratio, Failure to thri... OMIM:245400
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephrogenic diabetes insipidus, Conjugated hyperbilirubinemia, Renal tubular acidosis, Failure to... OMIM:208085
Mitochondrial Phosphate Carrier Deficiency
Lactic acidosis, Metabolic acidosis, Hypertrophic cardiomyopathy OMIM:610773
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension OMIM:607832
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Lactic acidosis, Diabetes mellitus OMIM:202900
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Elevated circulating creatine kinase concentration, Increased serum lactate OMIM:617070
Pituitary Adenoma 1, Multiple Types
Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Prolactinoma... OMIM:102200
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Hyperinsulinemic hypoglycemia, Abnormal circulating acetylcarnitine c... ORPHA:71212
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Mercury Poisoning
Hypotension, Hypokalemia, Tachycardia, Hypertension ORPHA:330021
Bronchial Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Elevated circulating growth hormone concentration, Increased cir... ORPHA:97287
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Lactic acidosis, Increased serum lactate, Small for gestational age,... OMIM:619055
Mitochondrial Complex I Deficiency, Nuclear Type 4
Metabolic acidosis OMIM:618225
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Maturity-onset diabetes of the young, Hyperphenylalaninemia, Abnormal circulating neopterin conce... ORPHA:1578
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH level, Increased circulating cortisol level, Primary hypercortisolism,... OMIM:219080
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Kearns-Sayre Syndrome
Arrhythmia, Lactic acidosis, Primary adrenal insufficiency, Renal tubular acidosis, Third degree ... OMIM:530000
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Ischemic stroke, Aortic regurgitat... ORPHA:91387
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Decreased circulating parathyroid hormone level, Hypophosphatemic rickets, Incr... ORPHA:157215
Alstrom Syndrome
Hyperinsulinemia, Multinodular goiter, Hypergonadotropic hypogonadism, Hypothyroidism, Hyperurice... OMIM:203800
Sporadic Pheochromocytoma/Secreting Paraganglioma
Palpitations, Extraadrenal pheochromocytoma, Hypertension associated with pheochromocytoma, Episo... ORPHA:276621
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Tetralogy of Fallot, Failure to thrive, Increased serum lactate, Metabolic acidosis ORPHA:88639
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Increased serum lactate, Pulmonary arterial hypertension, Mitral regurgitat... OMIM:614651
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Lactic acidosis, Hypertrophic cardiomyopathy OMIM:614299
Primary Hyperoxaluria Type 1
Hyperoxaluria, Atherosclerosis, Calcinosis, Metabolic acidosis, Failure to thrive, Abnormality of... ORPHA:93598
Tiglic Acidemia
Acidosis OMIM:275190
Pituitary Apoplexy
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Hypergon... ORPHA:95613
Fructose Intolerance, Hereditary
Hypophosphatemia, Gastrointestinal hemorrhage, Lactic acidosis, Hyperbilirubinemia, Hyperuricemia... OMIM:229600
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Metabolic ketoacidosis, Hypophosphatemic rickets... ORPHA:263455
Isovaleric Acidemia
Ketoacidosis, Cerebellar hemorrhage, Metabolic acidosis OMIM:243500
Developmental And Epileptic Encephalopathy 82
Hyperammonemia, Increased serum lactate, Decreased body weight OMIM:618721
Malonyl-Coa Decarboxylase Deficiency
Dilated cardiomyopathy, Lactic acidosis, Metabolic acidosis, Left ventricular noncompaction cardi... OMIM:248360
Pyruvate Dehydrogenase Phosphatase Deficiency
Lactic acidosis OMIM:608782
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Increased serum lactate, Failure to thrive in infancy, Hyperalaninemia, Hyperprolinemia, Pulmonar... OMIM:619064
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Hypophosphatemia, Bicarbonate-wasting renal tubular acidosis, Hypouri... ORPHA:3337
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hyperglycinemia, Metabolic ketoacidosis, Cerebellar hemorrhage, Methylmalonic acidemia, Pancreati... OMIM:251000
Leigh Syndrome With Leukodystrophy
Increased serum lactate, Hypertrophic cardiomyopathy, Failure to thrive, Acidosis ORPHA:255241
Scorpion Envenomation
Cardiogenic shock, Mixed respiratory and metabolic acidosis, Increased circulating creatine kinas... ORPHA:466677
Tsh-Secreting Pituitary Adenoma
Ventricular arrhythmia, Euthyroid hyperthyroxinemia, Male hypogonadism, Elevated circulating grow... ORPHA:91347
Glucose/Galactose Malabsorption
Failure to thrive, Metabolic acidosis OMIM:606824
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Hypertension, Atherosclerosis, Failure to thrive, Pulmonary arterial hypertens... OMIM:614008
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Abnormal aortic morphology, Aorto-ventricular tunnel, Heart ... ORPHA:3400
Infant Botulism
Hypotension, Hyponatremia, Hypertension, Xerostomia, Cardiac arrest ORPHA:178478
Coach Syndrome 2
Elevated circulating creatinine concentration, Hypertension OMIM:619111
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Intracranial hemorrhage, Hypertension, Cerebral hemorrhage, Cerebral ischemia, L... ORPHA:136
Glutathione Synthetase Deficiency
Chronic metabolic acidosis ORPHA:32
Alagille Syndrome 2
Peripheral pulmonary artery stenosis, Hypertension, Renal tubular acidosis, Pulmonic stenosis, Te... OMIM:610205
Hypokalemic Periodic Paralysis
Mildly elevated creatine kinase, Adrenocortical adenoma, Episodic hypokalemia ORPHA:681
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypohidrosis, Type I diabetes mellitus, Anterior hypopituitarism, Hypertension ORPHA:181
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Lactic acidosis, Increased serum lactate ORPHA:139485
Combined Oxidative Phosphorylation Deficiency 12
Lactic acidosis, Increased serum lactate, Failure to thrive OMIM:614924
Pyruvate Carboxylase Deficiency
Lactic acidosis, Hypernatremia, Hypoglutaminemia, Increased serum lactate, Increased level of L-g... ORPHA:3008
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Increased serum pyruvate, Lactic acidosis, Hyperalaninemia, Increased serum lactate OMIM:617668
Multiple Mitochondrial Dysfunctions Syndrome 3
Lactic acidosis, Metabolic acidosis OMIM:615330
Stiff Skin Syndrome
Hypertension, Abnormal circulating lipid concentration, Type II diabetes mellitus ORPHA:2833
Riboflavin Transporter Deficiency
Diabetes insipidus, Hypogonadism, Cachexia, Hypertension ORPHA:97229
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Calcinosis, Hypercalcemia, Primary hyperparathyroidism, Elevated circulating pa... OMIM:239200
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Hypertension ORPHA:363400
African Iron Overload
Increased circulating ferritin concentration, Increased circulating cortisol level, Abnormality o... ORPHA:139507
Fructose-1,6-Bisphosphatase Deficiency
Lactic acidosis, Intermittent lactic acidemia, Hyperuricemia, Neonatal hyperbilirubinemia, Hypera... ORPHA:348
Primary Pigmented Nodular Adrenocortical Disease
Slender build, Hypertension, Diabetes mellitus, Hypogonadism, Adrenal hyperplasia, Pigmented micr... ORPHA:189439
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Arrhythmia, Lactic acidosis, Acute pancreatitis, Elevated circulating... ORPHA:26791
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Metabolic acidosis OMIM:611555
Lactic Acidosis, Chronic Adult Form
Chronic lactic acidosis, Hyperuricemia OMIM:150170
Cystic Hamartoma Of Lung And Kidney
Hypertension ORPHA:2111
Congenital Isolated Acth Deficiency
Adrenocorticotropin deficient adrenal insufficiency, Adrenal hypoplasia, Hypotension, Decreased c... ORPHA:199296
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Elevated circulating creatine kinase concentration, Increased serum lactate, Right bundle branch ... OMIM:616479
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Failure to thrive, Elevated circulating parathyroid hormone level, Secondary hy... OMIM:264700
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Intracranial hemorrhage, Aortic atherosclerotic lesion, Coronary artery ath... ORPHA:363618
Mitochondrial Dna Depletion Syndrome 17
Low plasma citrulline, Hyperammonemia, Acidosis OMIM:618567
Apnea, Central Sleep
Lactic acidosis OMIM:207720
3-Hydroxyisobutyric Aciduria
Hypogonadotropic hypogonadism, Lactic acidosis ORPHA:939
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Lactic acidosis OMIM:614458
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Hypertension, Delayed puberty, Hypercalcemia, Anhidrosis, Obesity ORPHA:251004
Mitochondrial Myopathy And Sideroblastic Anemia
Lactic acidosis, Delayed puberty ORPHA:2598
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Failure to thrive, Elevated circulating parathyroid hormone level, Secondary hy... OMIM:277440
Hyperoxaluria, Primary, Type I
Intermittent claudication, Hyperoxaluria, Atrioventricular block, Arterial occlusion, Peripheral ... OMIM:259900
Coenzyme Q10 Deficiency, Primary, 4
Lactic acidosis OMIM:612016
Zollinger-Ellison Syndrome
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Adrenoco... ORPHA:913
C3 Glomerulopathy
Elevated circulating creatinine concentration, Hypertension ORPHA:329918
Schimke Immuno-Osseous Dysplasia
Arteriosclerosis of small cerebral arteries, Ischemic stroke, Atherosclerosis, Hypertension, Tran... ORPHA:1830
Double Outlet Right Ventricle
Hypocalcemia, Truncus arteriosus, Aplasia/Hypoplasia of the thymus, Pulmonic stenosis, Heart murm... ORPHA:3426
Juvenile Paget Disease
Hyperuricemia, Hypertension ORPHA:2801
Pseudoxanthoma Elasticum
Accelerated atherosclerosis, Gastrointestinal hemorrhage, Intermittent claudication, Angina pecto... OMIM:264800
Hepatocellular Carcinoma
Metabolic alkalosis, Internal hemorrhage, Hypotension, Hyperbilirubinemia, Hyponatremia, Budd-Chi... ORPHA:88673
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Lactic acidosis, Hyperthreonine... ORPHA:247598
Iga Nephropathy, Susceptibility To, 1
Hypertension OMIM:161950
Combined Oxidative Phosphorylation Defect Type 23
Severely reduced ejection fraction, Wolff-Parkinson-White syndrome, Lactic acidosis, Congestive h... ORPHA:444013
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Decreased plasma carnitine, Severe lactic acidosis, Mildly elevated creatine kinase ORPHA:254864
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Arrhythmia, Lactic acidosis, Increased serum lactate, Renal tubular acidosis, Hyperalaninemia, Sm... OMIM:615471
Mitochondrial Complex I Deficiency, Nuclear Type 5
Lactic acidosis, Failure to thrive OMIM:618226
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Increased serum lactate, Metabolic acidosis, Hypertrophic cardiomyopathy OMIM:619053
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Hypertension OMIM:268500
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Increased serum lactate, Stress/infection-induced lactic acidosis, Hypert... OMIM:252011
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Hypotension, Elevated circulating creatinine concentration, Increased serum lactate... ORPHA:36234
Methylmalonic Aciduria, Cblb Type