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Gene: Cul3 MGI:1347360

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

Human diseases associated with Cul3 (2 diseases)
Human diseases predicted to be associated with Cul3 (1050 diseases)

The table below shows human diseases associated to Cul3 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Pseudohypoaldosteronism, Type Iie		Hyperkalemia, Metabolic acidosis, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Hyperchl...	OMIM:614496
Neurodevelopmental Disorder With Or Without Autism Or Seizures		Hyperactivity, Microcephaly, EEG with burst suppression, Hypsarrhythmia, Failure to thrive	OMIM:619239

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

Disease	Matching phenotypes	Source
Pseudohypoaldosteronism, Type Iie	Hyperkalemia, Metabolic acidosis, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Hyperchl...	OMIM:614496
Pseudohypoaldosteronism, Type Iic	Hyperkalemia, Metabolic acidosis, Hypertension, Decreased serum bicarbonate concentration, Pseudo...	OMIM:614492
Pseudohypoaldosteronism, Type Iib	Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Hyperchloremic metabolic aci...	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Hyperchloremic metabolic aci...	OMIM:614495
Pseudohypoaldosteronism, Type Iia	Hyperchloremic acidosis, Hypertension, Pseudohypoaldosteronism, Hyperkalemia	OMIM:145260
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia, Metabolic acidosis, Hyperactive renin-angiotensin system, Hyperaldost...	OMIM:264350
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Metabolic acidosis, Hyperactive renin-angiotensin system, Hyperaldost...	OMIM:177735
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Metabolic acidosis, Hyperaldosteronism, Increased circulating renin l...	OMIM:620125
Hyperaldosteronism, Familial, Type Ii	Hypertension, Hypokalemia, Hyperaldosteronism	OMIM:605635
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Elevated circulating creatine kinase concentration, Mixed respiratory and metabolic ...	OMIM:145600
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Metabolic ...	ORPHA:404
Coronary Artery Disease, Autosomal Dominant, 1	Diabetes mellitus, Myocardial infarction, Obesity, Hypertension, Hypercholesterolemia, Premature ...	OMIM:608320
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I...	ORPHA:556037
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Decreased circ...	OMIM:610600
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Metabolic...	OMIM:620152
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism...	ORPHA:171876
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Metabolic acidosis, Hyperaldosteronism, Increased circulating renin l...	OMIM:620126
Blue Diaper Syndrome	Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased body wei...	ORPHA:94086
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I...	ORPHA:556030
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Metabolic acidosis, Hypertension, Hypokalemia, Hyperaldosteronism, Decreased...	OMIM:613677
Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hypovolemia, Hyperkalemia, Proximal renal tubular acidosis...	ORPHA:427
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Metabolic alkalosis, Elevated serum bicarbonate concentration, Alkalosis, Hypochlor...	OMIM:214700
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension, Failure to thrive, De...	OMIM:203400
Malignant Hyperthermia, Susceptibility To, 2	Lactic acidosis, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal...	ORPHA:251274
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Metabolic alkalosis, Neoplasm o...	ORPHA:231625
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Malignant Hyperthermia, Susceptibility To, 3	Lactic acidosis, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Hypoparathyroidism, Familial Isolated, 2	Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemia, Hypocalcemic se...	OMIM:618883
Apparent Mineralocorticoid Excess	Small for gestational age, Metabolic alkalosis, Hypertension, Hypokalemia, Failure to thrive, Dec...	OMIM:218030
Hyperchlorhidrosis, Isolated	Hyponatremia, Failure to thrive, Hyperkalemia	OMIM:143860
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Epistaxis, Metabolic alkalosis, Abnormal circulating renin, Intracranial hem...	ORPHA:369929
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension...	ORPHA:403
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath...	OMIM:203330
Ectopic Aldosterone-Producing Tumor	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Metabolic alkalosis, Hypertensi...	ORPHA:231632
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat...	OMIM:103900
Pseudohypoaldosteronism Type 2	Hypertension, Hyperkalemia	ORPHA:757
Dystonia 30	Diffuse cerebral atrophy, Torticollis, Dystonia, Writer's cramp, Impulsivity, Aggressive behavior...	OMIM:619291
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Adrenocorti...	ORPHA:199296
Pseudohypoparathyroidism, Type Ib	Obesity, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone le...	OMIM:603233
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Metabolic ...	ORPHA:231580
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Precocious puberty, Hyperkalemia, Increased c...	OMIM:614736
Gitelman Syndrome	Maternal diabetes, Hyperhidrosis, Renal Fanconi syndrome, Hypocalcemia, Prominent U wave, Abnorma...	ORPHA:358
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia, Hypertension, Hyperkalemic metabolic...	OMIM:602088
Hypokalemic Tubulopathy And Deafness	Acidosis, Hyperaldosteronism, Increased circulating renin level	OMIM:619406
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ...	OMIM:615703
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Ventricular arrhythmia	OMIM:141000
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Sudden cardiac death, Myocardial infarction, Increased LDL cholesterol conc...	OMIM:610947
Pseudohypoparathyroidism Type 2	Calcinosis, Prolonged QT interval, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulat...	ORPHA:94090
Autoimmune Hypoparathyroidism	Prolonged QT interval, Ventricular arrhythmia, Autoimmune hypoparathyroidism, Abnormal left ventr...	ORPHA:36913
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroid...	ORPHA:2239
Colchicine Poisoning	Hyponatremia, Abnormality of acid-base homeostasis, Congestive heart failure, Myocarditis, Hypovo...	ORPHA:31824
Acute Adrenal Insufficiency	Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Hypercalcemia, Myoca...	ORPHA:95409
Hypocalcemia, Autosomal Dominant 1	Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, Increased circul...	OMIM:601198
Liddle Syndrome 2	Metabolic alkalosis, Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decrease...	OMIM:618114
Liddle Syndrome 3	Metabolic alkalosis, Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decrease...	OMIM:618126
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Metabolic alkalosis, Hypertension, Hypokalemia, Second degree atrioventricular block, Primary hyp...	OMIM:615474
Hypoparathyroidism, Familial Isolated, 1	Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalce...	OMIM:146200
Leptin Receptor Deficiency	Decreased response to growth hormone stimulation test, Abnormal eating behavior, Aggressive behav...	OMIM:614963
Stxbp1-Related Encephalopathy	Cerebral white matter atrophy, Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Tremo...	ORPHA:599373
Hyperaldosteronism, Familial, Type Iv	Hypertension, Hyperaldosteronism	OMIM:617027
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Increased serum lactate, Metabolic acidosis, Low-output congestive heart failure, Lactic acidosis...	ORPHA:91130
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Increased serum lactate, Hyperkalemia, Metabolic acidosis, Hypoalb...	OMIM:618528
Familial Cervical Artery Dissection	Carotid artery dissection, Transient ischemic attack, Diabetes mellitus, Subarachnoid hemorrhage,...	ORPHA:36382
Liddle Syndrome 1	Hypokalemic alkalosis, Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decrea...	OMIM:177200
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Adrenal hypoplasia, Adrenal insufficiency	OMIM:240200
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c...	ORPHA:361
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Diabetes mellitus, Increased serum lactate, Hypomagnesemia, Hypochloremic metabolic...	OMIM:613845
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypokalemic hypochloremic metabolic alkalosis, Hypochloremia, Hyp...	OMIM:613090
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypokalemic metabolic alkalosis, Elevated serum bicarbonate concentration, Hypertension, Hypokale...	OMIM:612780
Pseudopseudohypoparathyroidism	Abnormality of the endocrine system, Obesity, Hyperphosphatemia, Elevated circulating parathyroid...	ORPHA:79445
East Syndrome	Metabolic alkalosis, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypomagn...	ORPHA:199343
Malignant Hyperthermia Of Anesthesia	High-output congestive heart failure, Hyperkalemia, Ventricular tachycardia, Premature ventricula...	ORPHA:423
Renal Hypoplasia, Bilateral	Hyponatremia, Small for gestational age, Hyperkalemia, Metabolic acidosis, Hypertension, Failure ...	ORPHA:97362
Hereditary Fructose Intolerance	Episodic hyperhidrosis, Hypermagnesemia, Metabolic acidosis, Hyperuricemia, Hypophosphatemia	ORPHA:469
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Increased circulating androstenedione concent...	ORPHA:90791
Neuroleptic Malignant Syndrome	Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Pulmonary embolism...	ORPHA:94093
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypoparathyroidism, Orthostatic hypotension, Decreased circulating cortisol level, ...	ORPHA:199299
Bartter Syndrome Type 4	Hyponatremia, Hypokalemic metabolic alkalosis, Small for gestational age, Hypochloremia, Hyperten...	ORPHA:89938
Bartter Syndrome, Type 3	Hyperchloriduria, Hypokalemic metabolic alkalosis, Hypokalemia, Hyperactive renin-angiotensin sys...	OMIM:607364
Combined Oxidative Phosphorylation Deficiency 8	Increased serum lactate, Congestive heart failure, Lactic acidosis, Metabolic acidosis, Reduced l...	OMIM:614096
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Parathyroid adenoma, Pancreatitis	OMIM:145980
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Obesity...	OMIM:612462
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hyperamylasemia, Bicarbonate-wasting renal tubular acidosis, Proximal renal tubular acidosis, Met...	OMIM:604278
Addison Disease	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Increased circul...	ORPHA:85138
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly	Hyperactivity, Microcephaly, Cerebral atrophy, Abnormal cerebral white matter morphology, Irritab...	OMIM:616657
Combined Oxidative Phosphorylation Deficiency 23	Increased serum lactate, Congestive heart failure, Dilated cardiomyopathy, Lactic acidosis, Arrhy...	OMIM:616198
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Class III obesity, Hypomagnesemia	OMIM:616418
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Hypop...	OMIM:604213
Hypocalciuric Hypercalcemia, Familial, Type Ii	Pancreatitis, Primary hyperparathyroidism, Hypermagnesemia, Hypercalcemia	OMIM:145981
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Abdominal Obesity-Metabolic Syndrome 1	Hypertension, Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Hypertension, Abdominal obesity	OMIM:605572
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyroto...	ORPHA:79102
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Hyperinsulinemia, Obesity, Hypertension, Type II diabetes mellitus, Childho...	ORPHA:71529
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Hyperparathyroidism, Hypokalemic metabolic alkalosis, Increased serum prostagla...	OMIM:601678
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Increased serum lactate, Congestive heart failure, Decreased plasma free carnitine, Metabolic aci...	OMIM:619048
Hyperkalemic Periodic Paralysis	Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Hyper...	ORPHA:682
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Ataxia, Microcephaly, Hypoplasia of the pons, Dysplastic corpus callosum, Dys...	OMIM:618276
Hawkinsinuria	Metabolic acidosis, Abnormal circulating tyrosine concentration, Failure to thrive, Hypothyroidism	ORPHA:2118
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Bone-marrow foam cells, Precocious ath...	ORPHA:275761
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated lactate:pyruvate ratio, Hyperprolinemia, Metabolic acidosis, Pulmonary arterial hyperten...	OMIM:619003
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypercalcemia, Primary hyperparathyroidism, Hypermagnesemia, Hypophosphatemia, Pancreatitis	OMIM:600740
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2	Dilation of Virchow-Robin spaces, Transient ischemic attack, Lacunar stroke, Hypertension, Stroke	OMIM:616779
Combined Oxidative Phosphorylation Deficiency 9	Elevated lactate:pyruvate ratio, Increased serum lactate, Ketoacidosis, Metabolic acidosis, Eleva...	OMIM:614582
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Increased serum lactate, Congestive heart failure, Lactic acidosi...	OMIM:618234
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ...	OMIM:613239
Calciphylaxis	Hyperphosphatemia, Arterial calcification, Secondary hyperparathyroidism	ORPHA:280062
Helix Syndrome	Anhidrosis, Hyperparathyroidism, Hypermagnesemia, Xerostomia, Hypohidrosis, Hypokalemia	OMIM:617671
Hsd10 Disease, Neonatal Type	Metabolic acidosis, Lactic acidosis, Hypertrophic cardiomyopathy	ORPHA:391457
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, El...	ORPHA:289548
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Mild malformation of cortical development, Dysplastic corpus callosum, Compulsive behaviors, Abno...	ORPHA:500166
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Metabolic acidosis, Hyperalaninemia	ORPHA:2597
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypokalemic metabolic alkalosis, Sudden cardiac death, Congestive heart failure, Dilated cardiomy...	ORPHA:73224
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Small for gestational age, Increased serum lactate, Hyperammonemia, Met...	OMIM:615160
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Elevated circulating lute...	ORPHA:168558
Liddle Syndrome	Hypertension, Hypokalemia, Cerebral ischemia, Arrhythmia	ORPHA:526
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperka...	ORPHA:31826
Abdominal Obesity-Metabolic Syndrome 4	Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Eleva...	OMIM:618620
Isolated Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Metabolic acidosis, Elevated circulating creatine kinase concentration	ORPHA:408
Combined Oxidative Phosphorylation Deficiency 52	Elevated circulating creatine kinase concentration, Hyperamylasemia, Increased serum lactate, Met...	OMIM:619386
Apparent Mineralocorticoid Excess	Hypokalemic metabolic alkalosis, Hypertension, Hypokalemia, Stroke, Abnormality of circulating co...	ORPHA:320
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Cardiomyopathy, Failure to thrive, Metabolic ac...	ORPHA:26792
Familial Pseudohyperkalemia	Hypertension, Hyperkalemia	ORPHA:90044
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic ac...	OMIM:614702
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Mitochondrial Complex I Deficiency, Nuclear Type 30	Metabolic acidosis, Congestive heart failure	OMIM:301021
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Ketoacidosis, Lactic acidosis, Metabolic acidosis, Hypertrophic cardiom...	OMIM:246900
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Hyperlipidemia, Permanent ...	ORPHA:31825
Glycosylphosphatidylinositol Biosynthesis Defect 17	Overfriendliness, Dysplastic corpus callosum, Aggressive behavior, Primary microcephaly	OMIM:618010
Glycogen Storage Disease Due To Aldolase A Deficiency	Elevated creatine kinase after exercise, Hyperkalemia, Arrhythmia	ORPHA:57
Genetic Recurrent Myoglobinuria	Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Arrhythmia	ORPHA:99845
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Hypertension, Hyperchloremic metabolic acidosis, Hypophosphatemia	OMIM:618913
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Hyperkalemic metabolic acidosis, Premature adrenarche, Hypo...	ORPHA:90794
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Increased serum lactate, Hyperprolinemia, Lactic acidosis, Cardiomyopat...	OMIM:619046
Pseudohypoparathyroidism, Type Ia	Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Elevated circulating parathyroid hormone le...	OMIM:103580
Combined Oxidative Phosphorylation Deficiency 38	Wolff-Parkinson-White syndrome, Increased serum lactate, Lactic acidosis, Hyperalaninemia, Hypert...	OMIM:618378
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Agenesis of corpus c...	OMIM:605899
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Combined Oxidative Phosphorylation Deficiency 28	Increased serum pyruvate, Congestive heart failure, Increased serum lactate, Severe lactic acidosis	OMIM:616794
Birk-Landau-Perez Syndrome	Hypertension, Hyperkalemia, Failure to thrive in infancy, Increased circulating creatine kinase M...	OMIM:617595
Mirage Syndrome	Hyponatremia, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Patent ductus arteriosus, Hyper...	OMIM:617053
Isovaleric Acidemia	Metabolic acidosis	ORPHA:33
Pyruvate Dehydrogenase Phosphatase Deficiency	Increased serum lactate, Hyperalaninemia, Lactic acidosis, Hyperprolinemia	ORPHA:79246
Hypomagnesemia 4, Renal	Hypomagnesemia	OMIM:611718
Acute Peripheral Arterial Occlusion	Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Stroke, Supraventricula...	ORPHA:90064
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Cerebellar hypoplasia, Limb dystonia...	OMIM:620270
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At...	ORPHA:66624
Combined Oxidative Phosphorylation Deficiency 34	Hypergonadotropic hypogonadism, Increased serum lactate, Elevated circulating thyroid-stimulating...	OMIM:617872
Mitochondrial Complex I Deficiency, Nuclear Type 15	Increased serum lactate, Hypertrophic cardiomyopathy, Failure to thrive, Metabolic acidosis	OMIM:618237
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Hyperthyroidism, Weight loss, Hypokalemia, Palpitations, Goiter	OMIM:188580
Combined Oxidative Phosphorylation Deficiency 17	Lactic acidosis, Congestive heart failure, Hypertrophic cardiomyopathy, Failure to thrive	OMIM:615440
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Stroke-like episode,...	OMIM:540000
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Metabolic acidosis, Distal renal tubular acidosis, Hypokalemia, Failure to thrive	OMIM:602722
Autosomal Recessive Spastic Paraplegia Type 11	Abnormal substantia nigra morphology, Ataxia, Overweight, Hyperintensity of cerebral white matter...	ORPHA:2822
Preeclampsia	Increased body mass index, Small for gestational age, Elevated circulating creatinine concentrati...	ORPHA:275555
Sulfide:Quinone Oxidoreductase Deficiency	Lactic acidosis, Elevated circulating creatine kinase concentration	OMIM:619221
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Small for gestational age, Increased serum lactate, Patent ductus arteriosus, L...	OMIM:617021
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,...	ORPHA:293978
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Hypokalemic metabolic alkalosis, Increased serum prostaglandin E2, Small for ge...	OMIM:241200
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Xerostomia, Hematochezia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Increased serum lactate, Failure to thrive, Metabolic acidosis	OMIM:610090
Corticosteroid-Binding Globulin Deficiency	Hypertension, Hypokalemia, Decreased circulating cortisol level, Hypotension	OMIM:611489
3-Hydroxyisobutyric Aciduria	Ketoacidosis, Lactic acidosis, Failure to thrive, Episodic ketoacidosis	OMIM:236795
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemic alkalosis, Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin...	OMIM:241150
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Hyperparathyroidism, Hyperkalemia	OMIM:620366
Pseudohypoparathyroidism Type 1B	Calcinosis, Prolonged QT interval, Decreased response to growth hormone stimulation test, Pseudoh...	ORPHA:94089
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Aggressive behavior, Microcephaly, Abnormal fear-induced behavior, Cortical dysplasia, Pseudobulb...	ORPHA:208441
Intracranial Hypertension, Idiopathic	Hypertension	OMIM:243200
Glomerulopathy With Fibronectin Deposits 1	Hypertension, Acidosis	OMIM:137950
Gitelman Syndrome	Prolonged QT interval, Hypokalemic alkalosis, Ventricular tachycardia, Hypokalemia, Increased cir...	OMIM:263800
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Coronary artery calcification, Congestive heart f...	OMIM:614473
Combined Oxidative Phosphorylation Deficiency 31	Increased serum lactate, Lactic acidosis, Hyperalaninemia, Hypertrophic cardiomyopathy, Failure t...	OMIM:617228
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Cardiomyopathy, Abnormal aortic morphology, Hyperuricemia, Arrhythmia	ORPHA:3222
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Parathyroid hyperplasia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hyper...	OMIM:617994
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Small for gestational age, Increased serum lactate, Chronic lactic acid...	OMIM:312170
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypokalemic hypochloremic metabolic alkalosis, Hypochloremia, Hyp...	OMIM:602522
Mitochondrial Myopathy, Infantile, Transient	Increased serum pyruvate, Elevated circulating creatine kinase concentration, Increased serum lac...	OMIM:500009
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Hypertension, Diabetic...	OMIM:615238
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Mitochondrial Complex I Deficiency, Nuclear Type 6	Increased serum lactate, Lactic acidosis, Metabolic acidosis, Severe lactic acidosis, Hypertrophi...	OMIM:618228
Autosomal Dominant Hypocalcemia	Congestive heart failure, Hyperphosphatemia, Hypocalcemia, Hypotension, Hypomagnesemia, Arrhythmia	ORPHA:428
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Aggr...	ORPHA:3077
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ...	OMIM:241410
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hyperkalemia, Increased ...	ORPHA:90790
Maternally-Inherited Diabetes And Deafness	Congestive heart failure, Hypertension, Type II diabetes mellitus, Arrhythmia, Hypertrophic cardi...	ORPHA:225
Microcephaly, Seizures, And Developmental Delay	Cerebellar atrophy, Hyperactivity, Ataxia, Microcephaly, Simplified gyral pattern, Hypoplasia of ...	OMIM:613402
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Ataxia, Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Se...	OMIM:620317
Mitochondrial Complex I Deficiency, Nuclear Type 13	Failure to thrive, Cardiac arrest, Metabolic acidosis, Bradycardia, Hypertrophic cardiomyopathy, ...	OMIM:618235
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Anhidrosis, Elevated circulating creatine kinase concentration, Hyperkalem...	ORPHA:466650
2P21 Microdeletion Syndrome	Lactic acidosis, Failure to thrive, Hypogonadism, Hypocalcemia	ORPHA:163693
Hypomagnesemia 6, Renal	Hypomagnesemia	OMIM:613882
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron, Chr...	OMIM:603358
Basal Ganglia Calcification, Idiopathic, 5	Cerebral calcification, Postural tremor, Cerebellar calcifications, Basal ganglia calcification, ...	OMIM:615483
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentratio...	OMIM:618183
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Hypertension, Paraganglioma	OMIM:618464
Combined Oxidative Phosphorylation Deficiency 20	Lactic acidosis, Hyperalaninemia, Hypertrophic cardiomyopathy, Small for gestational age	OMIM:615917
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Metabolic acidosis, Hypokalemia, Distal renal tubular acidosis, Failure to thrive, Hyperchloremic...	OMIM:611590
Pyruvate Dehydrogenase E3 Deficiency	Abnormal cardiac ventricular function, Elevated circulating branched chain amino acid concentrati...	ORPHA:2394
Juvenile Huntington Disease	Cerebellar atrophy, Hyperactivity, Neuronal loss in basal ganglia, Ataxia, Chorea, Weight loss, D...	ORPHA:248111
Renal Failure, Progressive, With Hypertension	Hypertension, Elevated circulating creatinine concentration	OMIM:161900
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Metabolic acidosis, Lact...	OMIM:616501
Triokinase And Fmn Cyclase Deficiency Syndrome	Reduced systolic function, Failure to thrive in infancy, Dilated cardiomyopathy, Lactic acidosis,...	OMIM:618805
Hsd10 Mitochondrial Disease	Lactic acidosis, Hypertrophic cardiomyopathy, Elevated circulating tiglylglycine concentration, M...	OMIM:300438
Combined Oxidative Phosphorylation Deficiency 30	Elevated lactate:pyruvate ratio, Increased serum lactate, Lactic acidosis, Hyperalaninemia, Failu...	OMIM:616974
Mitochondrial Complex I Deficiency, Nuclear Type 22	Elevated lactate:pyruvate ratio, Lactic acidosis, Hypertrophic cardiomyopathy	OMIM:618243
Vitamin D-Dependent Rickets, Type 3	Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia	OMIM:619073
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Impulsivity, Cryptorchidism, Interhypothalamic adhesion, Self-injurious behavior, Attention defic...	OMIM:618929
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Increased serum lactate, Metabolic acidosis	OMIM:615158
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Tricuspid regurgitation, Increased serum lactate, Hyperammonemia, Lactic acidosis, Pulmonary arte...	OMIM:619051
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav...	ORPHA:101016
Combined Oxidative Phosphorylation Deficiency 43	Increased serum lactate, Small for gestational age, Elevated circulating creatine kinase concentr...	OMIM:618851
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Lactic acidosis, Hypertrophic cardiomyopathy	OMIM:614053
Combined Oxidative Phosphorylation Deficiency 16	Increased serum lactate, Hypertrophic cardiomyopathy	OMIM:615395
Pyridoxal Phosphate-Responsive Seizures	Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentration, Abnormal...	ORPHA:79096
Lipodystrophy, Familial Partial, Type 1	Prominent superficial veins, Hypertriglyceridemia, Acute pancreatitis, Insulin-resistant diabetes...	OMIM:608600
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Hematemesis, Hyperkalemia, Elevated circulating creatinine concent...	ORPHA:340
Pseudohypoparathyroidism Type 1C	Calcinosis, Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth h...	ORPHA:79444
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio...	OMIM:615812
Orthostatic Hypotension 1	Orthostatic hypotension, Atrial fibrillation, Reduced circulating prolactin concentration, Increa...	OMIM:223360
Acetyl-Coa Acetyltransferase-2 Deficiency	Increased serum pyruvate, Increased serum lactate	OMIM:614055
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Pancreatitis, Hypocalcemic seizures	ORPHA:405
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Increased serum pyruvate, Increased serum lactate, Congestive heart failure, Dilated cardiomyopat...	ORPHA:1349
Mitochondrial Myopathy With Lactic Acidosis	Increased serum pyruvate, Lactic acidosis, Elevated serum anion gap, Increased serum lactate	OMIM:251950
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension	OMIM:166990
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Increased serum lactate, Congestive heart failure, Stroke-like episode, Lactic acidosis, Metaboli...	ORPHA:70472
Neurodevelopmental Disorder With Language Delay And Seizures	Hypothyroidism, Hypomagnesemia	OMIM:619908
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Coronary artery calcification, Congestive heart failure, Carotid artery ca...	OMIM:208000
Duplication Of The Pituitary Gland	Encephalocele, Microcephaly, Abnormal pituitary gland morphology, Abnormal hypothalamus morpholog...	ORPHA:314621
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Elevated circulating creatine kinase concentration, Ketoacidosis, Dilated cardiomyopathy, Hyperam...	OMIM:618120
Mitochondrial Complex I Deficiency, Nuclear Type 7	Lactic acidosis, Hypertrophic cardiomyopathy, Failure to thrive	OMIM:618229
Polycystic Kidney Disease 7	Hypertension	OMIM:620056
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevated circulating crea...	OMIM:620300
Pseudohypoparathyroidism Type 1A	Calcinosis, Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth h...	ORPHA:79443
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Increased serum lactate, Metabolic acidosis, Pancreatitis, Hyperammonemia	OMIM:620137
Takayasu Arteritis	Myocardial infarction, Vascular dilatation, Vasculitis, Arterial stenosis, Hyperhidrosis, Weight ...	ORPHA:3287
Preeclampsia/Eclampsia 1	Hypertension	OMIM:189800
Hypercalcemia, Infantile, 2	Failure to thrive, Hypercalcemia, Hypophosphatemia	OMIM:616963
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Lactic acidosis, Metabolic acidosis	OMIM:615026
Glucocorticoid Resistance, Generalized	Metabolic alkalosis, Increased circulating ACTH level, Hypertension, Increased circulating cortis...	OMIM:615962
Malignant Hyperthermia, Susceptibility To, 4	Acidosis	OMIM:600467
Lipoyltransferase 1 Deficiency	Increased serum lactate, Hyperglutaminemia, Hyperprolinemia, Lactic acidosis, Bradycardia, Pulmon...	OMIM:616299
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Lactic acidosis, Failure to thrive, Abnormal circulating pyruvate family amino acid concentration...	ORPHA:255182
Moyamoya Disease With Early-Onset Achalasia	Abnormal cerebral vascular morphology, Raynaud phenomenon, Hypertension, Stroke, Moyamoya phenomenon	ORPHA:401945
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Metabolic acidosis, Bradycardia, Hyp...	OMIM:617222
Necrotizing Enterocolitis	Hyponatremia, Shock, Small for gestational age, Increased serum lactate, Metabolic acidosis, Brad...	ORPHA:391673
Refractory Celiac Disease	Hypomagnesemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Spastic Paraplegia-Nephritis-Deafness Syndrome	Hypertension	ORPHA:2820
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Metabolic alkalosis, I...	ORPHA:786
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Hypoplasia of the corpus callosum	OMIM:613162
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hypomagnesemia	OMIM:618314
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperphosphatemia, Vascular calcification	OMIM:211900
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Epi...	ORPHA:94080
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Hypertension,...	ORPHA:280356
Lipodystrophy, Familial Partial, Type 4	Hypertension, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Stroke	OMIM:613877
Dihydropyrimidine Dehydrogenase Deficiency	Hyperactivity, Microcephaly, Cerebral atrophy, Failure to thrive, Agenesis of corpus callosum	OMIM:274270
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Transient hypophosphatemia, Small for gestational age, Hyperphosphatemia, Hyp...	OMIM:127000
Thymic Neuroendocrine Tumor	Hypercalcemia, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus...	ORPHA:97289
Galactosemia I	Hypergonadotropic hypogonadism, Increased level of galactitol in plasma, Metabolic acidosis, Hype...	OMIM:230400
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Lactic acidosis, Decreased circulating ferritin concentration	ORPHA:330054
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Increased serum pyruvate, Hyperalaninemia, Lactic acidosis, Metabolic acidosis	OMIM:245349
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Hyperhidrosis, Episodi...	OMIM:171420
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess	OMIM:613743
Pearson Syndrome	Hypoparathyroidism, Elevated lactate:pyruvate ratio, Diabetes mellitus, Small for gestational age...	ORPHA:699
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Increased serum lactate, Hypomagnesemia, Rena...	OMIM:619743
Sanjad-Sakati Syndrome	Congenital hypoparathyroidism, Hypoparathyroidism, Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate, Severe lactic acidosis	OMIM:616111
Tako-Tsubo Cardiomyopathy	Abnormal coronary artery morphology, Prolonged QTc interval, Mildly elevated creatine kinase, Mil...	ORPHA:66529
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Schizencephaly, Failure to thrive, Hyperactivity, Impulsivity, Microcephaly, Aggressive behavior,...	OMIM:604317
Cholera	Hyponatremia, Tachycardia, Abnormal blood ion concentration, Lactic acidosis, Hypovolemic shock, ...	ORPHA:173
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Elevated circulating creatine kinase concentration, Hyperlipidemia, Hypertensi...	OMIM:615980
Dihydropyrimidinase Deficiency	Elevated circulating uracil concentration, Metabolic acidosis, Elevated circulating thymine conce...	OMIM:222748
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hyperlipidemia, Postprandial hyperlactemia, Delayed puberty, Hypertrophic cardiomyopathy, Failure...	ORPHA:369
Pyruvate Dehydrogenase E1-Beta Deficiency	Lactic acidosis, Hyperammonemia	OMIM:614111
Primary Membranoproliferative Glomerulonephritis	Hypertension, Hypoalbuminemia, Myocardial infarction	ORPHA:54370
Combined Oxidative Phosphorylation Deficiency 5	Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Hypertrophic cardio...	OMIM:611719
Familial Partial Lipodystrophy, Köbberling Type	Diabetes mellitus, Hyperinsulinemia, Hypertension, Coronary artery atherosclerosis, Pancreatitis	ORPHA:79084
Acrodysostosis 1 With Or Without Hormone Resistance	Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen...	OMIM:101800
Rhabdoid Tumor	Hypertension, Internal hemorrhage, Hypercalcemia, Weight loss	ORPHA:69077
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Adrenal hyperplasia, Increased circulating dehydroepiandrosterone-sulfate concentra...	OMIM:201810
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Tachycardia, Small for gestational age, Elevated circulating creatine kina...	ORPHA:26793
Hypomagnesemia 2, Renal	Hypokalemia, Hypomagnesemia	OMIM:154020
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Male hypogonadism, Decreased circulating renin level, Eleva...	ORPHA:90793
Paget Disease Of Bone 5, Juvenile-Onset	Failure to thrive, Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia	OMIM:239000
Fibronectin Glomerulopathy	Hypertension, Hypoalbuminemia, Cerebral hemorrhage	ORPHA:84090
Cystinosis	Portal hypertension, Nephrogenic diabetes insipidus, Hypokalemia, Hypophosphatemia, Type I diabet...	ORPHA:213
Oxoglutarate Dehydrogenase Deficiency	Increased serum lactate, Metabolic acidosis, Congenital lactic acidosis	OMIM:203740
Hydroxykynureninuria	Tachycardia, Abnormal circulating tryptophan concentration, Metabolic acidosis, Renal tubular aci...	ORPHA:79155
Methylmalonyl-Coa Epimerase Deficiency	Metabolic acidosis, Failure to thrive, Elevated circulating palmitoleylcarnitine concentration, H...	OMIM:251120
Cardiomyopathy, Dilated, 2C	Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopat...	OMIM:618189
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
3-Methylglutaconic Aciduria Type 4	Lactic acidosis, Cardiomyopathy, Failure to thrive	ORPHA:67048
Mitochondrial Complex I Deficiency, Nuclear Type 34	Metabolic acidosis, Lactic acidosis	OMIM:618776
Adult Acute Respiratory Distress Syndrome	Shock, Vasculitis, Metabolic acidosis, Diabetic ketoacidosis, Hypotension, Pancreatitis	ORPHA:70578
Mitochondrial Complex I Deficiency, Nuclear Type 4	Increased serum pyruvate, Increased serum lactate, Metabolic acidosis	OMIM:618225
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:605115
Mitochondrial Complex I Deficiency, Nuclear Type 14	Increased serum lactate, Lactic acidosis, Hypertrophic cardiomyopathy	OMIM:618236
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Lactic acidosis, Increased serum lactate	OMIM:614741
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Increased serum lactate, Proximal renal tubular acidosis, Lactic acidos...	OMIM:266150
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Reduced cerebral white matter volume, Aggressive behavior, Corpus callosum atrophy...	OMIM:301107
Combined Oxidative Phosphorylation Deficiency 48	Increased serum lactate, Lactic acidosis, Failure to thrive	OMIM:619012
Focal Segmental Glomerulosclerosis 1	Hypertension, Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Primary Intestinal Lymphangiectasia	Abnormal lymphatic vessel morphology, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia,...	ORPHA:90362
Pituitary Adenoma 4, Acth-Secreting	Pituitary adenoma, Increased circulating ACTH level, Obesity, Alkalosis, Hypertension, Hypokalemi...	OMIM:219090
Coenzyme Q10 Deficiency, Primary, 5	Lactic acidosis, Hyperalaninemia, Increased serum lactate, Bradycardia	OMIM:614654
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Microcephaly, Stereotypical body rocking, Agitat...	OMIM:309548
Inflammatory Skin And Bowel Disease, Neonatal, 2	Hypertension, Failure to thrive, Coarctation of aorta	OMIM:616069
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Hypertension, Telangiectases producing 'marbled' skin	OMIM:206570
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Increased serum lactate, Lactic acidosis, Pulmonary arterial hypertension, Hyperglycinemia, Hyper...	OMIM:619059
Propionic Acidemia	Cerebellar hemorrhage, Hyperammonemia, Lactic acidosis, Cardiomyopathy, Metabolic acidosis, Hyper...	OMIM:606054
Kenny-Caffey Syndrome, Type 1	Congenital hypoparathyroidism, Hypocalcemia, Hypomagnesemia	OMIM:244460
Cach Syndrome	Cerebellar atrophy, Microcephaly, T2 hypointense thalamus, Truncal ataxia, Cerebral atrophy, Dysm...	ORPHA:135
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Diabetes mellitus, Hypouricemia, Large for gestational age, Metabolic acidosis, Hypophosphatemia	OMIM:616026
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Metabolic ketoacidosis, Cerebellar hemorrhage, Hyperammonemia, Cardiomyop...	OMIM:251000
Amoebiasis Due To Free-Living Amoebae	Restlessness, Abnormal medulla oblongata morphology, Ataxia, Abnormal cerebellum morphology, Abno...	ORPHA:68
Extracranial Carotid Artery Aneurysm	Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Cerebral ...	ORPHA:494424
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca...	ORPHA:439232
Polyarteritis Nodosa	Pericarditis, Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Weight l...	ORPHA:767
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Respiratory alkalosis, Increased serum lactate, Ketoacidosis, Hyperglutaminemia, Low plasma citru...	OMIM:615751
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Lactic acidosis, Increased serum lactate, Elevated circulating creatine kinase concentration, Hyp...	OMIM:618416
Mitochondrial Complex I Deficiency, Nuclear Type 25	Lactic acidosis, Failure to thrive	OMIM:618246
Melorheostosis With Osteopoikilosis	Hypertension	ORPHA:1879
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Hyperactivity, Decreased response to growth hormone stimulation test, Aggressive behavior, Microc...	OMIM:615286
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Lactic acidosis, Hypertrophic cardiomyopathy	ORPHA:1369
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatine kinase, Impaired myocardia...	ORPHA:681
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Ataxia, EEG with generalized polyspikes, Aggressive behavior, Abnormal neuron morp...	ORPHA:163681
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Lactic acidosis, Hypertrophic cardiomyopathy, Failure to thrive, Increased serum lactate	OMIM:613561
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Arterial stenosis, Cerebral artery atherosclerosis, Hypertension, Type I diabetes mellitus, Coron...	ORPHA:1192
Combined Oxidative Phosphorylation Deficiency 1	Elevated lactate:pyruvate ratio, Increased serum lactate, Metabolic acidosis	OMIM:609060
Pontocerebellar Hypoplasia Type 2	Paroxysmal dystonia, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Oral-pharyngeal dy...	ORPHA:2524
Renal Tubular Acidosis, Distal, 1	Distal renal tubular acidosis, Hypokalemia, Elevated circulating creatinine concentration, Hypoca...	OMIM:179800
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Lactic acidosis, Hypertrophic cardiomyopathy	OMIM:617184
Trimethylaminuria	Hypertension, Tachycardia	OMIM:602079
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity...	ORPHA:77296
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Elevated circulating acylcarnitine concentration, Congestive heart failure,...	ORPHA:99901
Alexander Disease Type I	Cerebellar atrophy, Ataxia, Cachexia, Abnormal thalamic MRI signal intensity, Abnormal cerebral w...	ORPHA:363717
Grange Syndrome	Aortic regurgitation, Hypertension, Patent ductus arteriosus, Arterial stenosis	ORPHA:79094
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Elevated lactate:pyruvate ratio, Metabolic ketoacidosis, Increased serum lactate, Ketoacidosis, H...	OMIM:615453
Moyamoya Disease 6 With Or Without Achalasia	Raynaud phenomenon, Hypertension, Ischemic stroke, Achalasia, Moyamoya phenomenon	OMIM:615750
Mitochondrial Complex I Deficiency, Nuclear Type 29	Elevated lactate:pyruvate ratio, Increased serum lactate, Lactic acidosis, Palpitations, Hyperala...	OMIM:618250
Coenzyme Q10 Deficiency, Primary, 8	Small for gestational age, Hypertension, Elevated circulating creatinine concentration	OMIM:616733
Landau-Kleffner Syndrome	Interictal EEG abnormality, Hyperactivity, EEG with frontal focal spikes, Impulsivity, Aggressive...	ORPHA:98818
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Small for gestational age, Elevated circulating creatine kinase con...	OMIM:618775
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Prominent superficial veins, Hypertriglyceridemia, Mater...	OMIM:604367
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Metabolic acidosis	OMIM:231900
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Microcephaly, Dysplastic corpus callosum, EEG abnormality, Lissencephaly, Dec...	OMIM:614833
Combined Oxidative Phosphorylation Deficiency 2	Lactic acidosis, Patent ductus arteriosus, Increased serum lactate, Small for gestational age	OMIM:610498
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Hypertension, Hypokalemic alkalosis, Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature pubarche, Premature thelarche, Isosexual precocio...	ORPHA:90795
Gracile Syndrome	Increased circulating ferritin concentration, Lactic acidosis, Renal Fanconi syndrome, Elevated h...	ORPHA:53693
Cystinosis, Nephropathic	Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Reduced blood urea nitrogen, Hypop...	OMIM:219800
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Methylmalonic acidemia, Ketoacidosis, Acidosis, Failure to thrive	ORPHA:289504
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:1345
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Weight loss, Lactic acidosis, Severe lactic acidosis, Failure to thrive	OMIM:612075
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Increased serum pyruvate, Hyperalaninemia, Lactic acidosis, Increased serum lactate	OMIM:617668
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypovolemia, Metabolic...	ORPHA:411634
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Increased ...	OMIM:606407
Beta-Ketothiolase Deficiency	Increased serum lactate, Ketoacidosis, Hyperammonemia, Weight loss, Metabolic acidosis, Hypertens...	ORPHA:134
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Lactic acidosis, Cardiomyopathy, Hypertrophic cardiomyopathy	OMIM:615119
Fanconi Renotubular Syndrome 1	Metabolic acidosis, Hypokalemia, Hypophosphatemia	OMIM:134600
Nail-Patella-Like Renal Disease	Hypertension	ORPHA:2613
Fibromuscular Dysplasia, Arterial	Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudication, Aortic disse...	OMIM:135580
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Elevated circulating creatine kinase concentration, Increased serum lactate, Obesity, Heart murmu...	OMIM:615418
Mitochondrial Complex I Deficiency, Nuclear Type 3	Metabolic acidosis	OMIM:618224
Hartnup Disorder	Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:234500
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopathy, Obesi...	ORPHA:563
Glycogen Storage Disease Ixa1	Lactic acidosis, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypothyroidism, Hypertensio...	ORPHA:90065
Combined Oxidative Phosphorylation Deficiency 4	Increased serum lactate, Lactic acidosis, Metabolic acidosis, Hyperammonemia	OMIM:610678
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Delayed early-childhood so...	ORPHA:300570
Multiple Mitochondrial Dysfunctions Syndrome 3	Elevated lactate:pyruvate ratio, Lactic acidosis, Metabolic acidosis, Hyperglycinemia	OMIM:615330
2,4-Dienoyl-Coa Reductase Deficiency	Increased serum lactate, Metabolic acidosis, Decreased plasma free carnitine, Failure to thrive, ...	OMIM:616034
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight...	OMIM:615954
Mucolipidosis Iv	Cerebellar atrophy, Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Dystonia	OMIM:252650
Infantile Nephropathic Cystinosis	Abnormality of thyroid physiology, Acidosis, Abnormal blood ion concentration, Hypokalemia, Renal...	ORPHA:411629
Aortic Aneurysm, Familial Thoracic 4	Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr...	OMIM:132900
Familial Isolated Hyperparathyroidism	Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone level, Hypop...	ORPHA:99879
Coasy Protein-Associated Neurodegeneration	Abnormal globus pallidus morphology, Abnormal caudate nucleus morphology, Compulsive behaviors, E...	ORPHA:397725
Brachydactyly-Arterial Hypertension Syndrome	Hypertension	ORPHA:1276
Nelson Syndrome	Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo...	ORPHA:199244
Sengers Syndrome	Cardiac arrest, Sudden cardiac death, Exercise-induced lactic acidemia, Increased serum lactate, ...	OMIM:212350
Tubulinopathy-Associated Dysgyria	Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Hypoplasia of the pons, Attention deficit hyp...	ORPHA:467166
Hypomagnesemia 3, Renal	Elevated circulating parathyroid hormone level, Hyperuricemia, Hypomagnesemia, Distal renal tubul...	OMIM:248250
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating creatine kinase concentration, Cardiac arrest, Premature thelarche, Elevated...	OMIM:616878
Hypertension And Brachydactyly Syndrome	Hypertension	OMIM:112410
Mitochondrial Complex I Deficiency, Nuclear Type 16	Lactic acidosis, Failure to thrive, Adrenal insufficiency	OMIM:618238
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Diabetes mellitus, Myocarditis, Hyperkalemia, Hypertension, Hypocalcemia, Pancreati...	ORPHA:544482
Rasmussen Subacute Encephalitis	Hyperactivity, Hemidystonia, Increased theta frequency activity in EEG, Abnormal basal ganglia mo...	ORPHA:1929
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h...	ORPHA:280679
Pheochromocytoma	Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Hyperhidrosis, Episodi...	OMIM:171300
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agyria, Microcephaly, Hypoplastic anterio...	ORPHA:171680
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Caudate atrophy, Basal ganglia calcification, T2 hypointense thalamus, Leukoencephalopathy, EEG a...	OMIM:618193
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Familial Aortic Dissection	Aortic regurgitation, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending ao...	ORPHA:229
Sneddon Syndrome	Intracranial hemorrhage, Hypertension, Arterial stenosis	ORPHA:820
Mitochondrial Trifunctional Protein Deficiency 1	Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati...	OMIM:609015
Malonyl-Coa Decarboxylase Deficiency	Lactic acidosis, Dilated cardiomyopathy, Metabolic acidosis, Left ventricular noncompaction cardi...	OMIM:248360
Mitochondrial Complex I Deficiency, Nuclear Type 5	Lactic acidosis, Failure to thrive, Metabolic acidosis, Increased serum lactate	OMIM:618226
Lactase Deficiency, Congenital	Metabolic acidosis	OMIM:223000
Glomerulopathy With Fibronectin Deposits 2	Hypertension	OMIM:601894
Diarrhea 4, Malabsorptive, Congenital	Failure to thrive, Hyperchloremic metabolic acidosis	OMIM:610370
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern,...	OMIM:620001
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Diabetes mellitus, Maternal diabetes, Congestive heart failure, Insulin-res...	ORPHA:79083
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Elevated circulating creatine kinase concentration, Increased serum lactate, Cardiomyopathy, Rena...	ORPHA:324525
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h...	OMIM:300845
Neuroferritinopathy	Resting tremor, Caudate atrophy, Dystonia, Writer's cramp, Abnormal putamen morphology, T2 hypoin...	ORPHA:157846
Clcn4-Related X-Linked Intellectual Disability Syndrome	Hyperactivity, Microcephaly, Aggressive behavior, Cryptorchidism, Chorea, Depression, Abnormal ce...	ORPHA:485350
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic ac...	OMIM:618253
Fanconi-Bickel Syndrome	Diabetes mellitus, Hypertriglyceridemia, Metabolic acidosis, Renal tubular acidosis, Hypophosphat...	ORPHA:2088
Combined Oxidative Phosphorylation Deficiency 42	Lactic acidosis, Cardiomyopathy, Decreased circulating cortisol level, Elevated circulating creat...	OMIM:618839
Leprechaunism	Hyperinsulinemia, Central hypothyroidism, Hypokalemia, Hyperaldosteronism, Increased circulating ...	ORPHA:508
Coenzyme Q10 Deficiency, Primary, 2	Aortic regurgitation, Elevated lactate:pyruvate ratio, Overweight, Increased serum lactate, Obesi...	OMIM:614651
Combined Oxidative Phosphorylation Deficiency 40	Lactic acidosis, Hypertrophic cardiomyopathy, Decreased circulating cortisol level, Elevated circ...	OMIM:618835
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Increased serum lactate, Hyperammonemia, Lactic acidosis, Hyperalaninemia, Failure to thrive	OMIM:614739
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ...	OMIM:202010
Tricarboxylic Acid Cycle, Defect Of	Persistent lactic acidosis	OMIM:275370
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Lactic acidosis, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia	OMIM:618815
Cln5 Disease	Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Corpus callosum atrophy, Tremor, ...	ORPHA:228360
Combined Oxidative Phosphorylation Deficiency 47	Increased serum lactate, Failure to thrive, Metabolic acidosis	OMIM:618958
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Lactic acidosis, Failure to thrive in infancy	OMIM:619065
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Increased serum lactate, Proximal renal tubular acidosis, Lactic acidosis, Metabolic acidosis, Fa...	OMIM:615824
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hyperparathyroidism, Hypoammonemia, Increased serum lactate, Proximal renal tubular...	ORPHA:534
Spinocerebellar Ataxia With Epilepsy	Cerebral infarct, Tremor, Dysmetria, Depression, Gait ataxia, Progressive cerebellar ataxia, Dysd...	ORPHA:254881
Fanconi-Bickel Syndrome	Hypouricemia, Acidosis, Chronic acidosis, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Incre...	OMIM:227810
Craniopharyngioma	Enlarged pituitary gland, Cerebral calcification, Neoplasm of the anterior pituitary, Pituitary h...	ORPHA:54595
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy	Diffuse cerebral atrophy, Decreased thalamic volume, Hypsarrhythmia, Secondary microcephaly, Dysp...	OMIM:613668
Lessel-Kubisch Syndrome	Hypertension, Hypogonadism	OMIM:618681
Mitochondrial Complex I Deficiency, Nuclear Type 39	Lactic acidosis, Hypertrophic cardiomyopathy, Small for gestational age	OMIM:620135
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Hyperactivity, Cerebellar vermis hypoplasia, Tremor, Dysmetria, Gait ataxia, ...	OMIM:618090
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy, Severe lactic acidosis	ORPHA:254857
Mitochondrial Phosphate Carrier Deficiency	Metabolic acidosis, Lactic acidosis, Hypertrophic cardiomyopathy	OMIM:610773
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Iga Nephropathy, Susceptibility To, 3	Hypertension	OMIM:616818
Phenformin 4-Hydroxylation	Lactic acidosis	OMIM:261590
D-Glyceric Aciduria	Metabolic acidosis, Hyperglycinemia, Nonketotic hyperglycinemia, Increased circulating free fatty...	ORPHA:941
Sulfite Oxidase Deficiency, Isolated	Metabolic acidosis, Elevated circulating creatine kinase concentration	OMIM:272300
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Dystonia, Impulsivity, Microcephaly, Aggressive behavior, Impaired pain sensation,...	ORPHA:500180
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia, Small for gestational age, Increased serum lactate, Metabolic acidosis, Failure to ...	OMIM:618252
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany, Congenital hypoparathyroidism, Abn...	ORPHA:93325
Pigmented Nodular Adrenocortical Disease, Primary, 4	Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Hypertension, Increased circulatin...	OMIM:615830
Iga Nephropathy, Susceptibility To, 2	Hypertension	OMIM:613944
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Aortic dissection, Transient ischemic attack, Subarachnoid hemorrhage, Desc...	ORPHA:91387
Potocki-Shaffer Syndrome	Hypertension, Hypothyroidism, Delayed puberty	ORPHA:52022
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracrania...	ORPHA:136
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Cerebral hemorrhage...	ORPHA:276621
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hyperthyroidism, Failure to thrive in infancy, Cachexia, Abnormality of the endocrine system, Abn...	ORPHA:37042
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig...	OMIM:610489
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Hypercalcemia, Parathyroid hyperplasia, Elevated circulating parathyroid hor...	OMIM:612089
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Increased serum lactate, Metabolic acidosis	OMIM:617290
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased serum lactate, Elevated circulating 2-hydroxybutyric acid concentration, Lactic acidosi...	OMIM:605711
Hsd10 Disease, Infantile Type	Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Hypertrophic cardio...	ORPHA:391428
Combined Oxidative Phosphorylation Deficiency 41	Lactic acidosis, Decreased circulating cortisol level, Elevated circulating creatine kinase conce...	OMIM:618838
Isovaleric Acidemia	Ketoacidosis, Cerebellar hemorrhage, Metabolic acidosis	OMIM:243500
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Elevated circulating creatine kinase concentration, Increased serum la...	OMIM:619055
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Periventricular white matter hyperintensities, Attention deficit hype...	OMIM:301008
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Large for gestational age, Multiple pancreatic...	ORPHA:79644
Succinic Acidemia	Lactic acidosis	OMIM:600335
Renal Tubular Acidosis Iii	Hypokalemia, Bicarbonate-wasting renal tubular acidosis	OMIM:267200
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Increased serum lactate, Failure to thrive, Tetralogy of Fallot, Metabolic acidosis	ORPHA:88639
Mitochondrial Myopathy, Lethal, Infantile	Lactic acidosis	OMIM:551000
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Metabolic acidosis, Stroke, Abnormality of circulating enzyme level, F...	ORPHA:93598
Coenzyme Q10 Deficiency, Primary, 4	Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate	OMIM:612016
Idiopathic Non-Lupus Full-House Nephropathy	Hypertension, Elevated circulating creatinine concentration	ORPHA:567544
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Microcephaly, Lateral vent...	OMIM:617751
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Tremor, Dysplastic corpus callosum, Hypoesthesia, Obesity, Secondar...	OMIM:619737
Focal Segmental Glomerulosclerosis 5	Hypertension	OMIM:613237
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin...	OMIM:219080
Leukoencephalopathy With Dystonia And Motor Neuropathy	Decreased motor nerve conduction velocity, Impaired vibratory sensation, Torticollis, Leukoenceph...	OMIM:613724
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Hypoperistalsis,...	OMIM:613834
Glutaric Aciduria Iii	Hypertension, Failure to thrive, Hyperthyroidism, Goiter	OMIM:231690
Focal Segmental Glomerulosclerosis 2	Hypertension	OMIM:603965
Isolated Atp Synthase Deficiency	Dilated cardiomyopathy, Hyperammonemia, Lactic acidosis, Hypogonadism, Arrhythmia, Hyperalaninemi...	ORPHA:254913
Aorta Coarctation	Pseudocoarctation of the aorta, Congestive heart failure, Patent ductus arteriosus, Hypoplastic a...	ORPHA:1457
Coproporphyria, Hereditary	Hypertension, Tachycardia	OMIM:121300
Secondary Intestinal Lymphangiectasia	Right ventricular failure, Reduced circulating transferrin concentration, Intestinal bleeding, Hy...	ORPHA:90363
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Cerebral atrophy, Inappropr...	ORPHA:309246
Mercury Poisoning	Hypertension, Hypokalemia, Tachycardia, Hypotension	ORPHA:330021
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Prolonged QT interval, Increased circulating fr...	ORPHA:71212
D-Glyceric Aciduria	Patent ductus arteriosus, Nonketotic hyperglycinemia, Metabolic acidosis, Bradycardia, Failure to...	OMIM:220120
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hypertension	OMIM:607832
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Lactic acidosis, Elevated circulating creatine kinase concentration	OMIM:609560
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Elevated lactate:pyruvate ratio, Hyperhidrosis, Lactic acidosis, Hyperglycinemia, Failure to thri...	OMIM:245400
Scorpion Envenomation	Bundle branch block, Respiratory alkalosis, Increased circulating NT-proBNP concentration, Hyperh...	ORPHA:466677
Dent Disease 2	Elevated circulating creatine kinase concentration, Hypophosphatemia	OMIM:300555
Homozygous Familial Hypercholesterolemia	Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A...	ORPHA:391665
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating osteocalcin level, Decreased circulating parathyroid hormone level, Increas...	ORPHA:157215
Phenylketonuria	Hyperactivity, Cerebral calcification, Microcephaly, Aggressive behavior, Depression, Irritabilit...	OMIM:261600
Bronchial Neuroendocrine Tumor	Tricuspid regurgitation, Elevated circulating growth hormone concentration, Right ventricular fai...	ORPHA:97287
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Decreased circulating parathyroid hormone level, Abnormal circulating calcium concentration, Hypo...	OMIM:241530
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Failure to thrive in infancy, Increased serum lactate, Hyperprolinemia, Pulmonary arterial hypert...	OMIM:619064
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Small for gestational age, Increased serum lactate, Hyperammonemia, Lactic acidosis, Hypertension...	OMIM:614052
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum	ORPHA:250972
Developmental And Epileptic Encephalopathy 82	Increased serum lactate, Hyperammonemia, Decreased body weight	OMIM:618721
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:102200
Aorto-Ventricular Tunnel	Abnormal coronary artery morphology, Aorto-ventricular tunnel, Congestive heart failure, Heart mu...	ORPHA:3400
Mitochondrial Complex I Deficiency, Nuclear Type 8	Increased serum lactate, Lactic acidosis, Pancreatitis	OMIM:618230
Alstrom Syndrome	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism, De...	OMIM:203800
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Tachycardia, Abnormal coronary artery morphology, Cardia...	ORPHA:860
Kearns-Sayre Syndrome	Hypoparathyroidism, Diabetes mellitus, Primary adrenal insufficiency, Lactic acidosis, Cardiomyop...	OMIM:530000
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Conjugated hyperbilirubinemia, Hyperkalemia	OMIM:608885
Mitochondrial Complex I Deficiency, Nuclear Type 26	Elevated lactate:pyruvate ratio, Increased serum lactate, Metabolic acidosis	OMIM:618247
Infant Botulism	Hyponatremia, Cardiac arrest, Xerostomia, Hypertension, Hypotension	ORPHA:178478
Central Precocious Puberty In Male	Abnormality of the testis size, Aggressive behavior, Pituitary microadenoma, Attention deficit hy...	ORPHA:649929
Tiglic Acidemia	Acidosis	OMIM:275190
Pituitary Apoplexy	Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	ORPHA:95613
Gaisböck Syndrome	Hypertriglyceridemia, Angina pectoris, Diabetes mellitus, Myocardial infarction, Overweight, Hypo...	ORPHA:90041
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c...	OMIM:201750
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Dystonia, Ataxia, Basal ganglia calcification, Chorea, Hypoesthesia, Dysmetria, Thalamic calcific...	OMIM:618317
Pyruvate Dehydrogenase Phosphatase Deficiency	Lactic acidosis	OMIM:608782
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Cerebellar atrophy, Ataxia, EEG with abnormally slow frequencies, T2 hypointense thalamus, Cerebr...	ORPHA:1947
Adenosine Monophosphate Deaminase Deficiency	Increased serum lactate, Elevated creatine kinase after exercise	ORPHA:45
3-Methylglutaconic Aciduria, Type I	Metabolic acidosis, Failure to thrive	OMIM:250950
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Elevated circulating parathyroid hormone level, Hypocalcemia, Secondary hyperparathyroidism, Hypo...	OMIM:264700
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hyperactivity, Aggressive behavior, Tremor, Cryptorchidism, Cortical dysplasia, Simplified gyral ...	OMIM:300354
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	Cerebellar atrophy, Cerebral white matter atrophy, Hyperactivity, Microcephaly, Corpus callosum a...	ORPHA:369939
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Coach Syndrome 2	Hypertension, Elevated circulating creatinine concentration	OMIM:619111
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ...	ORPHA:293987
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypertension, Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating al...	OMIM:613095
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Abnormal circulating biopterin concentration, Maturity-onset diabetes of the young, Hyperphenylal...	ORPHA:1578
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone ...	OMIM:239200
Glucose/Galactose Malabsorption	Metabolic acidosis, Failure to thrive	OMIM:606824
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Conjugated hyperbilirubinemia, Nephrogenic diabetes insipidus, Metabolic acidosis, Renal tubular ...	OMIM:613404
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased serum pyruvate, Elevated lactate:pyruvate ratio, Cardiac arrest, Increased serum lactat...	OMIM:604377
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Microcephaly, Tremor, EEG abnormality, Self-injurious behavior, Bruxism, Abnormal ...	OMIM:618718
Late Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Corpus callosum atrophy, Multifoc...	ORPHA:168491
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia, Large for gestational age, Abnormal circulating fatty-acid concentration, Metabolic ...	ORPHA:263455
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,...	ORPHA:91347
Alagille Syndrome 2	Renal tubular acidosis, Hypertension, Pulmonic stenosis, Tetralogy of Fallot, Peripheral pulmonar...	OMIM:610205
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, ...	OMIM:168000
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Lactic acidosis, Increased serum lactate	ORPHA:139485
Hawkinsinuria	Hypertyrosinemia, Failure to thrive, Metabolic acidosis	OMIM:140350
Joubert Syndrome 23	Dysplastic corpus callosum, Cerebellar dysplasia	OMIM:616490
Stiff Skin Syndrome	Hypertension, Abnormal circulating lipid concentration, Type II diabetes mellitus	ORPHA:2833
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertension, Hypertriglyceridemia, Hyperinsulinemia	ORPHA:363400
Dietary Iron Overload Disease	Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,...	ORPHA:139507
Riboflavin Transporter Deficiency	Hypertension, Cachexia, Hypogonadism, Diabetes insipidus	ORPHA:97229
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Interictal EEG abnormality, Cerebral atrophy, Depression, Abnormal cerebral w...	ORPHA:79264
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Microcephaly, Aggressive behavior, EEG with generalized epileptiform ...	OMIM:619827
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu...	OMIM:264800
Glutathione Synthetase Deficiency	Chronic metabolic acidosis	ORPHA:32
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Methylmalonic acidemia, Small for gestational age, Elevated circulating creatine kinase concentra...	OMIM:612073
Glycogen Storage Disease Ic	Spider hemangioma, Chronic pancreatitis, Hyperlipidemia, Lactic acidosis, Hypertension, Xanthelas...	OMIM:232240
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Proximal renal tubular ...	ORPHA:3337
Cystic Hamartoma Of Lung And Kidney	Hypertension	ORPHA:2111
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Bicarbonaturia, Proximal renal tubular acidosis, Lactic acidosis, Me...	OMIM:229600
Encephalopathy, Ethylmalonic	Lactic acidosis, Elevated circulating butyrylcarnitine concentration, Failure to thrive	OMIM:602473
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Intermittent lactic acidemia, Lactic acidosis, Metabolic acidosis, Hyperuricemia, Hy...	ORPHA:348
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Failure to thrive, Hypocalcemia, Hypophosphatemia	OMIM:600081
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Metabolic acidosis	OMIM:611555
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Elevated lactate:pyruvate ratio, Increased serum lactate, Stress/infection-induced lactic acidosi...	OMIM:252011
Multiple Acyl-Coa Dehydrogenase Deficiency	Acute pancreatitis, Elevated circulating creatine kinase concentration, Elevated circulating acyl...	ORPHA:26791
X-Linked Hypohidrotic Ectodermal Dysplasia	Type I diabetes mellitus, Hypertension, Anterior hypopituitarism, Hypohidrosis	ORPHA:181
Mitochondrial Complex I Deficiency, Nuclear Type 37	Increased serum lactate, Stroke-like episode, Lactic acidosis, Bradycardia, Pulmonary arterial hy...	OMIM:619272
Mitochondrial Complex I Deficiency, Nuclear Type 19	Lactic acidosis, Hypertrophic cardiomyopathy	OMIM:618241
Linear Verrucous Nevus Syndrome	Hypophosphatemia	ORPHA:2611
Mitochondrial Complex I Deficiency, Nuclear Type 17	Lactic acidosis, Increased serum lactate	OMIM:618239
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1	Elevated circulating hexacosanoic acid concentration, Increased serum lactate, Lactic acidosis, H...	OMIM:614388
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Cerebral hemorrhage...	ORPHA:29072
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Increased serum lactate, Cardiomyopathy, Abnormal circulating creatine kinase concentration, Abno...	ORPHA:521411
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Thick cerebral cortex, Cerebellar vermis hypoplasia, Ataxia, Dystonia, ...	ORPHA:357058
Schimke Immuno-Osseous Dysplasia	Transient ischemic attack, Abnormality of thyroid physiology, Small for gestational age, Congesti...	ORPHA:1830
Adenine Phosphoribosyltransferase Deficiency	Metabolic acidosis, Elevated circulating creatinine concentration	OMIM:614723
3-Hydroxyisobutyric Aciduria	Lactic acidosis, Hypogonadotropic hypogonadism	ORPHA:939
Mitochondrial Dna Depletion Syndrome 17	Acidosis, Low plasma citrulline, Hyperammonemia	OMIM:618567
Lactic Acidosis, Chronic Adult Form	Hyperuricemia, Chronic lactic acidosis	OMIM:150170
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Elevated circulating acylcarnitine concentration, Increased serum lactate, Lactic acidosis, Abnor...	OMIM:615838
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Abnormality of the anterior commissure, Fusion of the left and right thal...	OMIM:617542
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Generalized dystonia, Cerebellar calcifications, Basal ganglia calcification, Limb ataxia, Thalam...	OMIM:618824
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Dilated cardiomyopathy, Hyperhidrosis, Lactic acidosis, Hyperglycinemia, Hypertrophic cardiomyopathy	OMIM:614299
Sneddon Syndrome	Hypertension, Stroke, Ischemic stroke, Cerebral hemorrhage	OMIM:182410
Fg Syndrome 3	Chiari type I malformation, Cryptorchidism, Hyperactivity, Agenesis of corpus callosum	OMIM:300406
Combined Oxidative Phosphorylation Deficiency 33	Elevated circulating creatine kinase concentration, Cardiac arrest, Increased serum lactate, Lact...	OMIM:617713
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Severe lactic acidosis, Mildly elevated creatine kinase, Decreased circulating carnitine concentr...	ORPHA:254864
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Lactic acidosis, Hypoalbuminemia, Hyperthreoninemia, Abn...	ORPHA:247598
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Small for gestational age, Increased serum lactate, Lactic acidosis, Co...	ORPHA:79243
Mitochondrial Myopathy And Sideroblastic Anemia	Lactic acidosis, Delayed puberty	ORPHA:2598
Paternal Uniparental Disomy Of Chromosome 1	Anhidrosis, Hypercalcemia, Obesity, Increased blood urea nitrogen, Hypertension, Delayed puberty	ORPHA:251004
Vitamin D-Dependent Rickets, Type 2A	Elevated circulating parathyroid hormone level, Secondary hyperparathyroidism, Hypophosphatemia, ...	OMIM:277440
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Increased serum lactate, Hypertrophic cardiomyopathy, Metabolic acidosis	OMIM:619053
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Increased serum lactate, Increased circulating ferritin concentration, Lactic acidosis, Delayed p...	OMIM:600462
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Increased serum lactate, Metabolic acidosis	OMIM:614105
Iga Nephropathy, Susceptibility To, 1	Hypertension	OMIM:161950
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Cerebral atrophy, Cerebellar hypoplasia...	OMIM:616900
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Elevated lactat...	ORPHA:3008
Fanconi Renotubular Syndrome 3	Metabolic acidosis, Elevated circulating creatinine concentration	OMIM:615605
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Hyperglutamatemia, Increased serum lactate, Low plasma citrulline, Hyperammonemia, Hyperprolinemi...	OMIM:620358
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hyperactivity, Ataxia, Cessation of head growth, Obesity, EEG abnormality, Inappropriate laughter...	ORPHA:411515
Juvenile Paget Disease	Hypertension, Hyperuricemia	ORPHA:2801
Congenital Short Bowel Syndrome	Metabolic acidosis, Failure to thrive, Steatorrhea	OMIM:615237
Myoclonic-Astatic Epilepsy	EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, Microcephal...	ORPHA:1942
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Ketoacidosis, Hyperammonemia, Metabolic acidosis, Hyperleucinemia, Failure ...	OMIM:210210
Enteric Anendocrinosis	Type I diabetes mellitus, Hyperchloremic metabolic acidosis, Portal hypertension	ORPHA:83620
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Cerebral calcification, Cerebellar vermis hypoplasia, Exaggerated startle response...	OMIM:617281
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:89937
Pediatric-Onset Graves Disease	Atrial fibrillation, Puberty and gonadal disorders, Congestive heart failure, Thyrotoxicosis with...	ORPHA:525731
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Congestive heart failure, Pulmonary carcinoid tumor, Intracranial hemorrhag...	ORPHA:363618
C3 Glomerulopathy	Hypertension, Elevated circulating creatinine concentration	ORPHA:329918
Acute Disseminated Encephalomyelitis	Interictal EEG abnormality, Somatic sensory dysfunction, Hypointensity of cerebral white matter o...	ORPHA:83597
Bacterial Toxic-Shock Syndrome	Shock, Tachycardia, Elevated circulating creatine kinase concentration, Increased serum lactate, ...	ORPHA:36234
Senior-Loken Syndrome	Hypertension	ORPHA:3156
Ganglioneuroma	Gastrointestinal hemorrhage, Hypertension, Abnormality of the adrenal glands, Neoplasm of the adr...	ORPHA:251992
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Cerebellar vermis hypoplasia, Aggressive behavior, Dysphoria, Depression, Secondar...	OMIM:620242
Polycystic Kidney Disease 5	Hypertension	OMIM:617610
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated circulating creatine kinase concentration, Congestive heart failure, Dilated cardiomyopa...	OMIM:615895
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Extraadrenal pheochromocytoma, Hyperhidrosis, Glomus jugular tumor, Adrenal pheochro...	OMIM:605373
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Small for gestational age, Conjugated hyperbilirubinemia, Nephrogenic diabetes insipidus, Metabol...	OMIM:208085
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Elevated circulating parath...	OMIM:307800
Vipoma	Diabetes mellitus, Hypercalcemia, Follicular thyroid carcinoma, Elevated circulating growth hormo...	ORPHA:97282
Tyrosinemia, Type I	Hypertyrosinemia, Gastrointestinal hemorrhage, Elevated circulating alpha-fetoprotein concentrati...	OMIM:276700
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Elevated lactate:pyruvate ratio, Elevated circulating creatine kinase concentration...	OMIM:610505
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Occipital encephalocele, Olivopon...	ORPHA:370959
Hypocalcemic Vitamin D-Dependent Rickets	Elevated circulating parathyroid hormone level, Hypocalcemia, Secondary hyperparathyroidism, Hypo...	ORPHA:289157
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Raynaud phenomenon, Arterial occlusion, Peripheral arterial stenosis, Atrioventric...	OMIM:259900
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial agene...	OMIM:619103
Livedoid Vasculopathy	Diabetes mellitus, Telangiectasia of the skin, Abnormal capillary morphology, Venous insufficienc...	ORPHA:542643
Double Outlet Right Ventricle	Hypoparathyroidism, Tachycardia, Failure to thrive, Double outlet right ventricle, Heart murmur, ...	ORPHA:3426
Seckel Syndrome 10	Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Elevated ci...	OMIM:617253
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Elevated circulating creatine kinase concentration, Elevated...	ORPHA:480864
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Small for gestational age, Increased serum lactate, Hyperammonemia, Lactic acidosis, Renal tubula...	OMIM:615471
Glycogen Storage Disease Xi	Increased serum pyruvate, Increased serum lactate, Elevated circulating creatine kinase concentra...	OMIM:612933
Heme Oxygenase 1 Deficiency	Epistaxis, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage, In...	OMIM:614034
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo...	ORPHA:913
New-Onset Refractory Status Epilepticus	Interictal EEG abnormality, Cerebellar edema, Abnormal basal ganglia MRI signal intensity, Multif...	ORPHA:363558
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Thyroid C cell hyperplasia, Hypertension, Increased circulating cortisol lev...	OMIM:171400
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Dysphagia, Hypothalamic ha...	OMIM:619775
Glycogen Storage Disease Ixc	Increased serum lactate, Lactic acidosis, Hypertriglyceridemia	OMIM:613027
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Increased serum lactate, Hypothyroidism, Mildly elevated creatine kinase	ORPHA:663
Cerebrooculofacioskeletal Syndrome 1	Metabolic acidosis, Failure to thrive, Small for gestational age	OMIM:214150
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Elevated circu...	ORPHA:247691
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypertension, Adrenal hyperplasia, Adrenogenital syndrome	OMIM:201910
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Stress/infection-induced lactic acidosis, Abnormal circulating carnitine concentration, Renal tub...	ORPHA:431361
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hyperammonemia, Metabolic acidosis, Hyperglycinemia, Failure to thrive	OMIM:251110
3-Hydroxy-3-Methylglutaric Aciduria	Acute pancreatitis, Cardiac arrest, Increased serum lactate, Dilated cardiomyopathy, Hyperammonem...	ORPHA:20
Glycogen Storage Disease Ia	Hyperlipidemia, Lactic acidosis, Hypertension, Xanthelasma, Hyperuricemia, Delayed puberty, Pancr...	OMIM:232200
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Failure to thrive in infancy, Aggressi...	ORPHA:488627
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Large for gestational age, Aggressive behavior, Dysplastic corpus callosum, Bilateral cryptorchid...	ORPHA:544488
Diarrhea 12, With Microvillus Atrophy	Metabolic acidosis	OMIM:619445
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, A...	ORPHA:758
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Lactic acidosis, Increased serum lactate	OMIM:614458
Glutaric Acidemia I	Metabolic acidosis, Elevated circulating glutaric acid concentration, Failure to thrive	OMIM:231670
Maple Syrup Urine Disease	Lactic acidosis, Elevated circulating branched chain amino acid concentration, Pancreatitis, Elev...	OMIM:248600
Sepsis In Premature Infants	Tachycardia, Small for gestational age, Elevated circulating C-reactive protein concentration, Me...	ORPHA:90051
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Hypertension, Hypokalemia, Hypocalcemia, Renal artery stenosis	OMIM:617913
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Metabolic acidosis, Hyperuricemia, Hyperammonemia	OMIM:246450
Mitochondrial Neurogastrointestinal Encephalomyopathy	Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Weight loss, Lactic acid...	ORPHA:298
Mitochondrial Complex I Deficiency, Nuclear Type 20	Congestive heart failure, Dilated cardiomyopathy, Lactic acidosis, Stroke, Hypertrophic cardiomyo...	OMIM:611126
Arteriosclerosis, Severe Juvenile	Myocardial infarction, Central retinal vessel vascular tortuosity, Calcification of the aorta, Ar...	OMIM:208060
Amyloidosis, Familial Visceral	Hypertension	OMIM:105200
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Hypocalcemia, Hypophosphatemia	ORPHA:93160
Combined Oxidative Phosphorylation Deficiency 37	Increased serum lactate, Lactic acidosis, Hypoalbuminemia, Hyperalaninemia, Hypertrophic cardiomy...	OMIM:618329
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:228308
Microcephaly, Amish Type	Lactic acidosis, Failure to thrive	OMIM:607196
Infantile Neuroaxonal Dystrophy	Cerebellar atrophy, Hyperactivity, Dystonia, Ataxia, Impulsivity, Cerebellar gliosis, Abnormal ce...	ORPHA:35069
Myopathy With Lactic Acidosis, Hereditary	Lactic acidosis, Palpitations, Increased serum lactate, Elevated circulating creatine kinase conc...	OMIM:255125
Polycythemia Vera	Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,...	ORPHA:729
Postorgasmic Illness Syndrome	Hypertension, Xerostomia, Palpitations, Hyperhidrosis	ORPHA:279947
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hyperammonemia, Metabolic acidosis, Elevated serum anion gap, Hyperglycin...	OMIM:251100
Mccune-Albright Syndrome	Hyperthyroidism, Elevated circulating growth hormone concentration, Precocious puberty, Abnormali...	ORPHA:562
Fanconi Renotubular Syndrome 2	Elevated circulating parathyroid hormone level, Hypophosphatemia	OMIM:613388
Alport Syndrome 3A, Autosomal Dominant	Azotemia, Hypertension, Hypophosphatemia	OMIM:104200
Aortic Arch Interruption	Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms...	ORPHA:2299
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia, Ch...	OMIM:307030
Pseudo-Torch Syndrome 3	Increased circulating ferritin concentration, Hypertension, Cerebral hemorrhage	OMIM:618886
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Episodic metabolic acidosis, Acute hyperammonemia, Failure to thrive	OMIM:210200
Erythrocytosis, Familial, 1	Hypertension, Cerebral hemorrhage, Myocardial infarction	OMIM:133100
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hypertension, Dilatation of the cerebral artery	OMIM:600666
Primary Hyperoxaluria	Hyperoxaluria, Heart block, Raynaud phenomenon, Arterial occlusion, Metabolic acidosis, Cardiomyo...	ORPHA:416
Tetanus	Hypertension, Tachycardia, Bradycardia, Elevated circulating creatine kinase concentration	ORPHA:3299
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Low Phospholipid-Associated Cholelithiasis	Diabetes mellitus, Overweight, Obesity, Hypertension, Hypercholesterolemia, Pancreatitis	ORPHA:69663
Acquired Generalized Lipodystrophy	Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Abnormal cardiovas...	ORPHA:79086
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Small for gestational age, Pulmonary arterial hypertension, Vascular dilatation	OMIM:613320
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Hypomagnesemia	OMIM:248190
Leigh Syndrome	Lactic acidosis, Failure to thrive, Increased serum lactate	OMIM:256000
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a...	OMIM:600376
Werner Syndrome	Telangiectasia of the skin, Abnormal cerebral vascular morphology, Myocardial infarction, Congest...	ORPHA:902
Combined Oxidative Phosphorylation Deficiency 19	Lactic acidosis, Failure to thrive, Metabolic acidosis	OMIM:615595
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Failure to thrive, Hypertension, Hyperhomocystinemia	ORPHA:2169
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Patent ductus arteriosus, Hypertension, Tachycardia	OMIM:613870
Parathyroid Carcinoma	Hypercalcemia, Shortened QT interval, Primary hyperparathyroidism, Abnormal parathyroid morpholog...	ORPHA:143
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Elevated circul...	OMIM:619355
Multiple Endocrine Neoplasia, Type I	Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, ...	OMIM:131100
Glutathione Synthetase Deficiency	Chronic metabolic acidosis	OMIM:266130
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Hypertension, Mitral regurgitation, Cerebral berry aneurysm	OMIM:173900
Rabson-Mendenhall Syndrome	Increased pineal volume, Precocious puberty, Insulin-resistant diabetes mellitus, Fasting hyperin...	ORPHA:769
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Abnormal basal ganglia MRI signal intensity, Abnormal mitochondrial shape, De...	ORPHA:485421
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Increased serum pyruvate, Increased serum lactate, Elevated circulating creatine kinase concentra...	ORPHA:2364
Juvenile Polyposis Syndrome	Hematochezia, Hypokalemia, Failure to thrive, Hypoalbuminemia	OMIM:174900
Cryoglobulinemia, Familial Mixed	Hypertension, Elevated circulating creatinine concentration	OMIM:123550
Ppoma	Gastrointestinal hemorrhage, Hypercalcemia, Elevated circulating growth hormone concentration, Ab...	ORPHA:97278
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased body weight, ...	ORPHA:264580
Glycogen Storage Disease Ib	Hyperlipidemia, Lactic acidosis, Hypertension, Xanthelasma, Hyperuricemia, Delayed puberty, Pancr...	OMIM:232220
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Failure to thrive, Left-to-right shunt, Congestive heart failure, Patent ductus arteriosus, Left ...	ORPHA:99050
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Abnormal cerebral vascular morphology, Primary adrenal i...	ORPHA:3453
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Acidosis	OMIM:204730
Aicardi-Goutieres Syndrome 9	Pericarditis, Acute pancreatitis, Portal hypertension, Weight loss, Hypertension, Hypoalbuminemia...	OMIM:619487
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Prominent superficial veins, Hypertriglyceridemia, Acute...	OMIM:151660
Systemic Lupus Erythematosus 17	Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis	OMIM:301080
Porphyria Variegata	Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Hypertension, Inappropri...	ORPHA:79473
Metaphyseal Chondrodysplasia, Jansen Type	Hypoparathyroidism, Hypercalcemia, Hypophosphatemia	OMIM:156400
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc...	ORPHA:3342
Leigh Syndrome	Cerebellar atrophy, Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, ...	ORPHA:506
Somatostatinoma	Gastrointestinal hemorrhage, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormon...	ORPHA:97283
Serotonin Syndrome	Tachycardia, Hyperhidrosis, Lactic acidosis, Hypertension, Hypotension	ORPHA:43116
Oculoskeletodental Syndrome	Abnormal thalamus morphology, Dysplastic corpus callosum, Focal white matter lesions	ORPHA:557003
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Abnormal eating behavior, Tremor, Ce...	ORPHA:98794
Infantile Liver Failure Syndrome 1	Lactic acidosis, Failure to thrive	OMIM:615438
Japanese Encephalitis	Decreased motor nerve conduction velocity, Abnormal substantia nigra morphology, Dystonia, Anorex...	ORPHA:79139
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Multicentric Carpotarsal Osteolysis Syndrome	Hypertension	OMIM:166300
Holocarboxylase Synthetase Deficiency	Lactic acidosis, Metabolic acidosis, Hyperammonemia	OMIM:253270
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Microcephaly 26, Primary, Autosomal Dominant	Failure to thrive, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia...	OMIM:619179
Overlap Myositis	Diabetes mellitus, Elevated circulating creatine kinase concentration, Raynaud phenomenon, Hypert...	ORPHA:206572
Hyperglycinemia, Lactic Acidosis, And Seizures	Lactic acidosis, Hypertrophic cardiomyopathy, Increased serum lactate	OMIM:614462
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612926
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Aggressive behavior, Cortical dysplasia, EEG abnormality, Impaired social ...	OMIM:610042
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly	OMIM:619955
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Small for gestational age, Elevated circulating C-reactive protein concentr...	OMIM:619573
Acquired Methemoglobinemia	Tachycardia, Syncope, Palpitations, Arrhythmia, Acidosis	ORPHA:464453
Nephroblastoma	Hypertension, Weight loss	ORPHA:654
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Pyridoxine-Dependent Epilepsy	Lactic acidosis	ORPHA:3006
Andersen Cardiodysrhythmic Periodic Paralysis	Prolonged QT interval, Hyperthyroidism, Bidirectional ventricular ectopy, Hypokalemia, Syncope, P...	OMIM:170390
Schimke Immunoosseous Dysplasia	Transient ischemic attack, Small for gestational age, Elevated circulating thyroid-stimulating ho...	OMIM:242900
Liver Failure, Infantile, Transient	Lactic acidosis, Increased serum lactate, Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Grfoma	Gastrointestinal hemorrhage, Hypercalcemia, Elevated circulating growth hormone concentration, Ne...	ORPHA:97261
Beta-Ureidopropionase Deficiency	Increased serum lactate, Elevated circulating N-carbamyl-beta-alanine concentration, Metabolic ac...	OMIM:613161
Familial Dysautonomia	Hyponatremia, Orthostatic hypotension, Tachycardia, Hyperhidrosis, Hypohidrosis, Hypertension	ORPHA:1764
Fibrous Dysplasia Of Bone	Hyperthyroidism, Precocious puberty in females, Hypercalcemia, Elevated circulating growth hormon...	ORPHA:249
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Myocardial infarction, Elevated circulating creatinine concentration, Hypertension,...	ORPHA:90038
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Lactic acidosis, Hypoa...	OMIM:251880
Ethylmalonic Encephalopathy	Lactic acidosis, Failure to thrive	ORPHA:51188
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Elevated circulating creatine kinase concentration, Increased serum lactate, Left bundle branch b...	OMIM:610131
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:49041
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel...	ORPHA:324
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Lactic acidosis, Cardiomyopathy, Increased serum lactate	OMIM:617710
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Arterial Tortuosity Syndrome	Aortic regurgitation, Carotid artery dissection, Pulmonary artery stenosis, Hypertension, Aortic ...	OMIM:208050
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c...	ORPHA:90068
Eosinophilic Granulomatosis With Polyangiitis	Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Myocardial infarction, Congestive...	ORPHA:183
Fructose-1,6-Bisphosphatase Deficiency	Metabolic acidosis, Tachycardia	OMIM:229700
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Hyperactivity, Dystonia, Impulsivity, Neurofibrillary tangles, Chorea, Cerebr...	OMIM:610217
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Increased serum lactate, Lactic acidosis, Hypertrophic cardiomyopathy, F...	OMIM:616539
Lujo Hemorrhagic Fever	Shock, Elevated circulating C-reactive protein concentration, Myocarditis, Hyperhidrosis, Subconj...	ORPHA:319213
Renal Tubular Acidosis, Proximal	Hyperchloremic acidosis, Renal tubular acidosis, Proximal renal tubular acidosis	OMIM:179830
Coenzyme Q10 Deficiency, Primary, 1	Lactic acidosis, Hypertrophic cardiomyopathy, Hypergonadotropic hypogonadism, Elevated circulatin...	OMIM:607426
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Dysplastic corpus callosum, Failure to thrive, Microcephaly	OMIM:604273
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Pulmonary embolism, Dilated cardiomyopathy, Subdural h...	ORPHA:79282
Fabry Disease	Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Hypo...	OMIM:301500
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Marburg Hemorrhagic Fever	Shock, Tachycardia, Pericarditis, Abnormality of acid-base homeostasis, Elevated circulating crea...	ORPHA:99826
Combined Oxidative Phosphorylation Deficiency 18	Increased serum lactate, Lactic acidosis	OMIM:615578
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hyperactivity, Aggressive behavior, Low frustration tolerance, Compulsive behaviors, Impaired soc...	OMIM:309520
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration, Hypertension, Aortic root aneurysm, Dilatation of ...	ORPHA:730
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Hydranencephaly, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of t...	ORPHA:2570
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Shortened QT interval, Primary hyperparathyroidism, Abnormal parathyroid morpholog...	ORPHA:99880
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
Melas	Wolff-Parkinson-White syndrome, Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonad...	ORPHA:550
Choreoacanthocytosis	Caudate atrophy, Chorea, Compulsive behaviors, Limb dystonia, Laryngeal dystonia, Decreased ampli...	ORPHA:2388
Frasier Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Hypertens...	ORPHA:347
Lead Poisoning	Decreased HDL cholesterol concentration, Small for gestational age, Increased LDL cholesterol con...	ORPHA:330015
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Elevated circulating creatine kinase concentration, Increased serum lactate, Lactic acidosis, Hig...	OMIM:251900
Microvillus Inclusion Disease	Metabolic acidosis, Hypovolemia	ORPHA:2290
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Pearson Marrow-Pancreas Syndrome	Small for gestational age, Lactic acidosis, Metabolic acidosis, Renal Fanconi syndrome, Hyperbili...	OMIM:557000
Cirrhosis, Familial	Increased level of propylene glycol in blood, Hypertension, Pulmonary arterial hypertension	OMIM:215600
Paroxysmal Hemicrania	Hypertension, Diabetes mellitus	ORPHA:157835
Porphyria Due To Ala Dehydratase Deficiency	Abnormal fear-induced behavior, Agitation, Restlessness, Depression	ORPHA:100924
Osteopetrosis With Renal Tubular Acidosis	Elevated circulating creatine kinase concentration, Distal renal tubular acidosis, Proximal renal...	ORPHA:2785
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Episodic hyperhidrosis, Elevated circulating creatinine con...	OMIM:223900
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic rickets, Hypophosphatemia	OMIM:300554
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hypertension, Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea...	OMIM:235400
Isolated Complex I Deficiency	Increased serum pyruvate, Diabetes mellitus, Lactic acidosis, Hypertrophic cardiomyopathy, Failur...	ORPHA:2609
Pallister-Hall-Like Syndrome	Occipital encephalocele, Microcephaly, Chiari type I malformation, Hypothalamic hamartoma, Anteri...	OMIM:241800
Familial Bicuspid Aortic Valve	Aortic regurgitation, Aortic arch aneurysm, Heart murmur, Coarctation of aorta, Hypertension, Asc...	ORPHA:402075
Proximal Renal Tubular Acidosis	Bicarbonaturia, Hypovolemia, Bicarbonate-wasting renal tubular acidosis, Hypokalemia, Failure to ...	ORPHA:47159
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Premature thelarche, Atrioventricular block, Coarctation of aorta, Hypertension, Type I diabetes ...	ORPHA:371428
Pseudo-Torch Syndrome 2	Lactic acidosis, Patent ductus arteriosus, Bradycardia, Cerebral hemorrhage	OMIM:617397
Combined Oxidative Phosphorylation Deficiency 14	Lactic acidosis, Increased serum lactate, Elevated hepatic iron concentration	OMIM:614946
Combined Oxidative Phosphorylation Deficiency 11	Lactic acidosis, Cardiomyopathy, Increased serum lactate, Renal tubular acidosis	OMIM:614922
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Disorganization of the anterior cerebellar vermis, Hyperactivity, Cerebellar vermis hypoplasia, C...	OMIM:300486
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Epistaxis, Hyperlipidemia, Thyroiditis, Lactic acidosis, Hypertension, Xant...	ORPHA:79259
Monosomy 18P	Hypertension, Hypothyroidism	ORPHA:1598
Alagille Syndrome	Telangiectasia of the skin, Hypertension, Delayed puberty, Failure to thrive, Peripheral pulmonar...	ORPHA:52
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Portal hypertension, Ascending aorta hypop...	OMIM:619503
Galloway-Mowat Syndrome 3	Hypertension, Failure to thrive, Hypoalbuminemia, Coarctation of aorta	OMIM:617729
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ...	ORPHA:91139
Prader-Willi Syndrome	Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec...	ORPHA:739
Combined Oxidative Phosphorylation Deficiency 12	Lactic acidosis, Failure to thrive, Elevated circulating alpha-fetoprotein concentration, Increas...	OMIM:614924
Glucagonoma	Gastrointestinal hemorrhage, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormon...	ORPHA:97280
Nephronophthisis 18	Hypertension	OMIM:615862
Osteootohepatoenteric Syndrome	Hypokalemia, Failure to thrive, Increased serum bile acid concentration, Weight loss	OMIM:619377
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Diabetes mellitus, Hyperthyroidism, Hypertension, Aortic root aneurysm, Hypothyroidism	ORPHA:449291
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Hypertension, Hypothyroidism	OMIM:617763
Distal Renal Tubular Acidosis	Decreased serum bicarbonate concentration, Hypokalemia, Failure to thrive, Hyperchloremic metabol...	ORPHA:18
Xfe Progeroid Syndrome	Hypertension, Failure to thrive, Hypoalbuminemia, Cachexia	OMIM:610965
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Metabolic acidosis	OMIM:602199
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Cardiomyopathy, Episodic metabolic acidosis, Failure to thrive	OMIM:201470
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Tricuspid regurgitation, Dilated cardiomyopathy, Lactic acidosis, Mitral regurgitation, Left vent...	OMIM:619167
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Increased serum lactate, Lactic acidosis, Renal Fanconi syndrome, Hypertrophic cardiomyopathy, Fa...	OMIM:220110
Oligomeganephronia	Small for gestational age, Hypertension, Pulmonary venous occlusion, Elevated circulating creatin...	ORPHA:2260
Acute Interstitial Pneumonia	Hypertension, Elevated circulating creatinine concentration, Elevated circulating C-reactive prot...	ORPHA:79126
Combined Oxidative Phosphorylation Deficiency 32	Lactic acidosis, Increased serum lactate	OMIM:617664
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Increased serum lactate, Patent ductus arteriosus, Coarctation of aorta, ...	ORPHA:17
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Increased serum lactate, Shortened PR interval, Obesity, Hyperten...	OMIM:614947
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Cystathioninemia, Metabolic acido...	OMIM:277400
Bardet-Biedl Syndrome	Hypertension, Hypoplasia of the ovary, Hypogonadism, Obesity	ORPHA:110
Stiff-Person Syndrome	Hypertension, Tachycardia, Diabetes mellitus, Hyperhidrosis	OMIM:184850
Mitochondrial Complex I Deficiency, Nuclear Type 18	Lactic acidosis	OMIM:618240
Denys-Drash Syndrome	Hypertension	ORPHA:220
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated lactate:pyruvate ratio, Increased serum lactate, Lactic acidosis, Meta...	OMIM:124000
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ...	ORPHA:900
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased body weight, ...	ORPHA:79240
Autosomal Dominant Dopa-Responsive Dystonia	Hypertension, Hypothyroidism, Transient hyperphenylalaninemia	ORPHA:98808
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Thrombotic Thrombocytopenic Purpura, Hereditary	Transient ischemic attack, Myocardial infarction, Increased serum lactate, Elevated circulating c...	OMIM:274150
Postinfectious Vasculitis	Abnormal circulating protein concentration, Cerebral vasculitis, Elevated circulating C-reactive ...	ORPHA:48435
47,Xyy Syndrome	Hyperactivity, Macroorchidism, Impulsivity, Cryptorchidism, Increased circulating gonadotropin le...	ORPHA:8
Nestor-Guillermo Progeria Syndrome	Prominent superficial veins, Decreased serum leptin, Right bundle branch block, Hypertension, Mit...	OMIM:614008
Congenital Heart Defects, Multiple Types, 6	Hypoplastic pulmonary veins, Left ventricular outflow tract obstruction, Coarctation of aorta, Ri...	OMIM:613854
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Lactic acidosis, Hypertrophic cardiomyopathy, Failure to thrive, Renal Fanconi syndrome	ORPHA:436271
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Failure to thrive, Secondary microcephaly	OMIM:619423
Pyruvate Dehydrogenase E2 Deficiency	Lactic acidosis	OMIM:245348
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Small for gestational age, Increased serum lactate, Hyperammonemia, Coarctation of aorta, Lactic ...	OMIM:220111
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Dysplastic corpus callosum, Self-injurious be...	ORPHA:314679
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Lactic acidosis, Low plasma citrulline	OMIM:261680
Yellow Fever	Shock, Acute pancreatitis, Elevated circulating creatine kinase concentration, Supraventricular a...	ORPHA:99829
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Overweight, Hematochezia, Renal tubular acidosis, Metabolic acidosis, Failure to thrive, Peripher...	OMIM:619575
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Impaired vibratory sensation, Impaired distal proprioception, Abnormal thalamic MRI signal intens...	ORPHA:70595
Fumarase Deficiency	Lactic acidosis, Failure to thrive, Metabolic acidosis, Hyperbilirubinemia	OMIM:606812
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Renal artery aneurysm, Portal hypertension, Elevated circulating C-reactive protein concentration...	OMIM:615688
Neuroblastoma, Susceptibility To, 1	Hypertension, Failure to thrive, Weight loss	OMIM:256700
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Lactic acidosis	ORPHA:1170
Aortic Valve Disease 2	Aortic regurgitation, Calcification of the aorta, Coarctation of aorta, Mitral regurgitation, Asc...	OMIM:614823
Central Hypoventilation Syndrome, Congenital, 3	Episodic hypertension	OMIM:619483
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Hypertension, Pheochromocytoma, Adrenocortical adenoma,...	ORPHA:139411
Pyruvate Dehydrogenase E1-Beta Deficiency	Lactic acidosis, Decreased body weight	ORPHA:255138
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Hyperactivity, Microcephaly, EEG with burst suppression, Hypsarrhythmia, Failure to thrive	OMIM:619239
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hydrocele testis, Dysplastic corpus callosum, Cerebellar hypoplasia	OMIM:618810
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Diffuse cerebral atrophy, Hyperactivity, EEG with spike-wave complexes, Micro...	ORPHA:1934
Kapur-Toriello Syndrome	Pachygyria, Dysplastic corpus callosum, Failure to thrive, Polymicrogyria	ORPHA:2328
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
Tay-Sachs Disease	Cerebellar atrophy, Exaggerated startle response, Hypointensity of cerebral white matter on MRI, ...	ORPHA:845
Brain-Lung-Thyroid Syndrome	Hyperactivity, Ataxia, Microcephaly, Abnormal eating behavior, Chorea, Abnormal drinking behavior...	ORPHA:209905
Acute Intermittent Porphyria	Hyponatremia, Hypertension, Tachycardia, Hyperhidrosis	ORPHA:79276
Combined Oxidative Phosphorylation Defect Type 7	Ataxia, Oral-pharyngeal dysphagia, Abnormal thalamic MRI signal intensity, Distal sensory impairm...	ORPHA:254930
Coach Syndrome 1	Vascular dilatation, Hypertension, Portal hypertension	OMIM:216360
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Metabolic acidosis	OMIM:201450
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ...	ORPHA:353277
Cockayne Syndrome Type 1	Hypohidrosis, Hypertension, Increased blood urea nitrogen, Male hypogonadism, Failure to thrive	ORPHA:90321
Dent Disease 1	Hypophosphatemia	OMIM:300009
Von Hippel-Lindau Disease	Pancreatic islet cell adenoma, Myocardial infarction, Myocarditis, Pancreatic endocrine tumor, Hy...	ORPHA:892
Atypical Werner Syndrome	Abnormal cerebral vascular morphology, Fasting hyperinsulinemia, Premature arteriosclerosis, Abno...	ORPHA:79474
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Hypertension, Elevated circulating creatinine concentration, Hyperuricemia, Hypotension	OMIM:174000
Paroxysmal Nocturnal Hemoglobinuria	Myocardial infarction, Decreased serum iron, Pulmonary embolism, Hypertension, Renal Fanconi synd...	ORPHA:447
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Lactic acidosis, Failure to thrive, Large for gestational age	OMIM:614520
Cutis Marmorata Telangiectatica Congenita	Hypertension, Telangiectasia	OMIM:219250
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Hyperhidrosis, Abnormal ...	ORPHA:99827
Mccune-Albright Syndrome	Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio...	OMIM:174800
Ochoa Syndrome	Hypertension	ORPHA:2704
Gaucher Disease, Type I	Epistaxis, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Aortic valve sten...	OMIM:230800
Diffuse Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Congestive heart failure, Xerostomia, Pulmonary arterial hypertension...	ORPHA:220393
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypertension, Hyperlipidemia, Hypoalbuminemia, Pulmonary embolism	ORPHA:567546
3P25.3 Microdeletion Syndrome	Cerebral white matter atrophy, Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperact...	ORPHA:435638
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Hypertension	OMIM:618061
Multiple Endocrine Neoplasia Type 2	Paraganglioma of head and neck, Hypercalcemia, Thyroid C cell hyperplasia, Primary hyperparathyro...	ORPHA:653
Spondyloenchondrodysplasia	Decreased response to growth hormone stimulation test, Raynaud phenomenon, Vasculitis, Hypertensi...	ORPHA:1855
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Aicardi-Goutieres Syndrome 7	Hematemesis, Increased circulating ferritin concentration, Vasculitis, Weight loss, Hematochezia,...	OMIM:615846
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Interstitial Lung And Liver Disease	Lactic acidosis, Failure to thrive, Hypothyroidism, Hyperammonemia	OMIM:615486
Generalized Arterial Calcification Of Infancy	Medial calcification of large arteries, Transient ischemic attack, Left ventricular systolic dysf...	ORPHA:51608
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Lactic acidosis, Elevated...	OMIM:603041
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lactic acidosis	OMIM:618232
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti...	OMIM:619991
Autosomal Recessive Malignant Osteopetrosis	Pulmonary arterial hypertension, Pulmonary artery stenosis, Hypocalcemia, Hypophosphatemia	ORPHA:667
Alexander Disease	Diabetes mellitus, Sudden cardiac death, Precocious puberty, Hyperhidrosis, Hypertension, Hypoten...	ORPHA:58
Joubert Syndrome 14	Intracranial hemorrhage, Hypertension	OMIM:614424
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ...	ORPHA:353281
Isolated Ectopia Lentis	Hypertension	ORPHA:1885
Periodic Fever, Menstrual Cycle-Dependent	Increased circulating cortisol level	OMIM:614674
Xq21 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi...	ORPHA:1435
Mitochondrial Complex I Deficiency, Nuclear Type 1	Elevated lactate:pyruvate ratio, Concentric hypertrophic cardiomyopathy, Lactic acidosis, Severe ...	OMIM:252010
Proximal Spinal Muscular Atrophy	Metabolic acidosis, Bradycardia	ORPHA:70
Pheochromocytoma/Paraganglioma Syndrome 4	Paraganglioma of head and neck, Tachycardia, Extraadrenal pheochromocytoma, Hyperhidrosis, Adrena...	OMIM:115310
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Cryptorchidism, Attention deficit hyperactivity disorder, Abnormal thalamus morphology, Compulsiv...	ORPHA:404440
Senior-Boichis Syndrome	Hypertension, Carotid artery dilatation, Portal hypertension, Increased total bilirubin	ORPHA:84081
Renal Hypodysplasia/Aplasia 1	Hypertension	OMIM:191830
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ataxia, Impulsivity, Aggressive behavior, Tremor, Dysplastic corpus callosum, Cryptorchidism, Thi...	OMIM:300967
Aceruloplasminemia	Torticollis, Dystonia, Ataxia, Tremor, Chorea, Craniofacial dystonia, Abnormal thalamic MRI signa...	ORPHA:48818
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Porencephalic cyst, Hypothalamic hamartoma, Occipital meningocele, ...	OMIM:277170
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, Head-banging, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618569
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Ataxia, Anterior pituitary hypoplasia, Shyness, Aggressive behavior, Dysplastic corpus callosum, ...	ORPHA:466791
Cardiac Diverticulum	Ventricular tachycardia, Pulmonary artery hypoplasia, Abnormal EKG, Patent ductus arteriosus, Pul...	ORPHA:1686
Hardikar Syndrome	Decreased serum insulin-like growth factor 1, Portal hypertension, Hematemesis, Patent ductus art...	OMIM:301068
Amish Lethal Microcephaly	Metabolic acidosis	ORPHA:99742
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia, Failure to thrive	OMIM:618426
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph...	ORPHA:95699
Renal Hypoplasia	Hypertension, Small for gestational age	ORPHA:93101
Wars2-Related Combined Oxidative Phosphorylation Defect	Lactic acidosis, Cardiomyopathy, Increased serum lactate	ORPHA:572798
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Hypertension	OMIM:619758
Wagro Syndrome	Hypertension, Obesity	OMIM:612469
Caudal Regression Syndrome	Hypertension, Maternal diabetes	ORPHA:3027
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hypertension, Aortic root aneurysm	OMIM:616914
Alkaptonuria	Coronary artery calcification, Myocardial infarction, Hypertension, Prostatitis, Atherosclerosis	ORPHA:56
Alport Syndrome	Hypertension, Renal glomerular foam cells, Aortic aneurysm, Abnormal aortic morphology	ORPHA:63
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the...	ORPHA:99889
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Hypertriglyceridemia, Small for gestational age, Pulmonary arteriovenous...	OMIM:606721
Papillorenal Syndrome	Hypertension, Elevated circulating creatinine concentration	OMIM:120330
Raine Syndrome	Hypophosphatemia	OMIM:259775
Bardet-Biedl Syndrome 1	Diabetes mellitus, Nephrogenic diabetes insipidus, Obesity, Hypertension, Truncal obesity, Abdomi...	OMIM:209900
Microcephaly 29, Primary, Autosomal Recessive	Hyperactivity, Ataxia, Simplified gyral pattern, Primary microcephaly, Emotional lability, Enlarg...	OMIM:620047
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Intracranial hemorrhage, Raynaud phenomenon, Carotid artery occlusion, Mit...	ORPHA:740
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Tricuspid regurgit...	OMIM:619534
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Ataxia, Bilateral cryptorchidism, Tremor, Aplasia/Hypoplasia of the...	ORPHA:2754
Porphyria, Acute Intermittent	Hypertension, Tachycardia	OMIM:176000
Adenine Phosphoribosyltransferase Deficiency	Hypertension, Atrial fibrillation	ORPHA:976
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Retinal hemorrhage, Hyperhidrosis, Hypertension, Bradycardia	OMIM:614653
Poliomyelitis	Hypertension, Hypovolemic shock, Hypotension	ORPHA:2912
Rhombencephalosynapsis	Fusion of the cerebellar hemispheres, Septo-optic dysplasia, Agenesis of cerebellar vermis, Ataxi...	ORPHA:59315
Classic Homocystinuria	Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ...	ORPHA:394
Hallermann-Streiff Syndrome	Hypertension, Small for gestational age, Pulmonary arterial hypertension, Telangiectasia	OMIM:234100
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Lactic acidosis, Increased serum lactate	OMIM:617186
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Hypoparathyroidism, Failure to thrive, Hyperthyroidism, Retinal arte...	ORPHA:567
Panhypophysitis	Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz...	ORPHA:95513
Acute Transverse Myelitis	Hypertension, Orthostatic hypotension, Decreased circulating copper concentration, Subarachnoid h...	ORPHA:139417
Williams Syndrome	Elevated circulating creatine kinase concentration, Myocardial infarction, Abnormal cerebral vasc...	ORPHA:904
Alport Syndrome 2, Autosomal Recessive	Hypertension	OMIM:203780
Neuroendocrine Neoplasm Of Appendix	Tricuspid stenosis, Heart murmur, Adrenocorticotropic hormone excess, Palpitations, Increased ser...	ORPHA:100079
Genitourinary And/Or Brain Malformation Syndrome	Absent septum pellucidum, Dysplastic corpus callosum, Cryptorchidism, Colpocephaly, Chiari malfor...	OMIM:618820
Vascular Ehlers-Danlos Syndrome	Peripheral arteriovenous fistula, Telangiectasia of the skin, Transient ischemic attack, Arterial...	ORPHA:286
Familial Osteodysplasia, Anderson Type	Hypertension, Hyperuricemia	ORPHA:2769
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Lactic acidosis, Cardiomyopathy	OMIM:616084
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Lactic acidosis, Failure to thrive, Metabolic acidosis	OMIM:256810
Lenz-Majewski Hyperostotic Dwarfism	Anterior pituitary hypoplasia, Microcephaly, Dysplastic corpus callosum, Cryptorchidism, Spina bi...	OMIM:151050
Fragile X-Associated Tremor/Ataxia Syndrome	Hypertension, Hypothyroidism, Hypotension	ORPHA:93256
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hypertension	ORPHA:1555
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating glutaric acid concentration, Acidosis	OMIM:231680
Vici Syndrome	Elevated circulating creatine kinase concentration, Acidosis, Congestive heart failure, Dilated c...	OMIM:242840
Primary Progressive Freezing Gait	Hypertension	ORPHA:75567
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, Aortic arch aneurysm, Failure to thrive in infancy, Myocardial infarction,...	ORPHA:99413
Mosaic Monosomy X	Prolonged QT interval, Aortic arch aneurysm, Failure to thrive in infancy, Myocardial infarction,...	ORPHA:99228
Monosomy X	Prolonged QT interval, Aortic arch aneurysm, Failure to thrive in infancy, Myocardial infarction,...	ORPHA:99226
Turner Syndrome	Prolonged QT interval, Aortic arch aneurysm, Failure to thrive in infancy, Myocardial infarction,...	ORPHA:881
Cockayne Syndrome	Anhidrosis, Diabetes mellitus, Cachexia, Retinal hemorrhage, Absence of pubertal development, Hyp...	ORPHA:191
Marshall-Smith Syndrome	Patent ductus arteriosus, Premature ventricular contraction, Hypertension, Decreased body weight,...	OMIM:602535
Smith-Lemli-Opitz Syndrome	Precocious puberty, Patent ductus arteriosus, Coarctation of aorta, Hypertension, Hypoalbuminemia...	OMIM:270400
17Q11 Microdeletion Syndrome	Telangiectasia of the skin, Abnormal internal carotid artery morphology, Precocious puberty, Reno...	ORPHA:97685
Au-Kline Syndrome	Hypertension, Aortic root aneurysm, Failure to thrive	OMIM:616580
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia	ORPHA:289176
Progeria-Short Stature-Pigmented Nevi Syndrome	Abnormal thalamus morphology, Small for gestational age, Paresthesia, Microcephaly	ORPHA:2959
Williams-Beuren Syndrome	Diabetes mellitus, Failure to thrive in infancy, Hypercalcemia, Portal hypertension, Retinal arte...	OMIM:194050
Nephronophthisis 1	Hypertension	OMIM:256100
Dent Disease	Renal hypophosphatemia, Elevated circulating creatine kinase concentration	ORPHA:1652
Hurler Syndrome	Cardiomyopathy, Hypertension, Angina pectoris	ORPHA:93473
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum	ORPHA:363444
Sickle Cell Disease	Hypertension, Stroke	OMIM:603903
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Hypertension	OMIM:301050
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Elevated circulating growth hormone ...	ORPHA:1359
Acute Liver Failure	Shock, Gastrointestinal hemorrhage, Hyperammonemia, Alkalosis, Intracranial hemorrhage, Adrenal i...	ORPHA:90062
Cockayne Syndrome A	Anhidrosis, Hypertension, Thymic hormone decreased, Hypogonadism, Arrhythmia, Failure to thrive, ...	OMIM:216400
Myhre Syndrome	Small for gestational age, Patent ductus arteriosus, Obesity, Coarctation of aorta, Hypertension,...	OMIM:139210
Familial Acute Necrotizing Encephalopathy	Abnormal putamen morphology, Abnormal thalamus morphology, Cerebral edema	ORPHA:88619
Apert Syndrome	Hypertension	ORPHA:87
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Hypertension, Portal hypertension	OMIM:263200
Nephronophthisis-Like Nephropathy 1	Hypertension, Chronic pancreatitis	OMIM:613159
Orofaciodigital Syndrome I	Abnormal cortical gyration, Microcephaly, Myelomeningocele, Porencephalic cyst, Cerebral atrophy,...	OMIM:311200
Microphthalmia, Syndromic 3	Anterior pituitary hypoplasia, Microcephaly, Cryptorchidism, Hypoplasia of the corpus callosum, H...	OMIM:206900
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Secondary microcephaly, Cerebellar hypopl...	OMIM:619306
Cockayne Syndrome B	Anhidrosis, Small for gestational age, Hypertension, Severe failure to thrive, Arrhythmia, Failur...	OMIM:133540
Tuberous Sclerosis Complex	Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Hypertension, Pulmonary l...	ORPHA:805
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Gastrointestinal hemorrhage, Portal hypertension, Hypertension, Increased serum bil...	ORPHA:731
X-Linked Hypophosphatemia	Hypophosphatemia	ORPHA:89936
Sandhoff Disease, Infantile Form	Exaggerated startle response, Abnormal thalamic MRI signal intensity, Cerebral cortical atrophy	ORPHA:309155
Beare-Stevenson Cutis Gyrata Syndrome	Hypertension	OMIM:123790
Fanconi Anemia, Complementation Group E	Prolonged G2 phase of cell cycle	OMIM:600901
White-Kernohan Syndrome	Dysplastic corpus callosum, Obesity, Attention deficit hyperactivity disorder	OMIM:619426
Norrie Disease	Cachexia, Microcephaly, Abnormality of the diencephalon, Cryptorchidism, EEG abnormality, Irritab...	ORPHA:649
Meningioma	Enlarged pituitary gland, Hypothalamic hypothyroidism, Ataxia, Neoplasm of the anterior pituitary...	ORPHA:2495
Mucopolysaccharidosis Type 2, Severe Form	Peripheral arterial stenosis, Heart murmur, Cardiomyopathy, Hypertension, Abnormal aortic morphol...	ORPHA:217085
Adenohypophysitis	Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz...	ORPHA:95512
Hunter-Macdonald Syndrome	Aortic regurgitation, Hypertension, Mitral regurgitation, Patent ductus arteriosus	OMIM:611962
Fanconi Anemia, Complementation Group A	Prolonged G2 phase of cell cycle	OMIM:227650
Somatomammotropinoma	Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati...	ORPHA:314769
Mucopolysaccharidosis Type 2, Attenuated Form	Peripheral arterial stenosis, Heart murmur, Cardiomyopathy, Hypertension, Abnormal aortic morphol...	ORPHA:217093
Oculocerebral Hypopigmentation Syndrome, Preus Type	Aplasia/Hypoplasia of the cerebellum, Abnormality of the diencephalon, Ataxia	ORPHA:2720
Cranioectodermal Dysplasia 2	Hypertension, Patent ductus arteriosus, Hyperbilirubinemia	OMIM:613610
Posterior Urethral Valve	Hypertension	ORPHA:93110
Acromegaly	Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati...	ORPHA:963
Mucopolysaccharidosis Type 2	Peripheral arterial stenosis, Cardiomyopathy, Hypertension, Abnormal aortic morphology, Arrhythmia	ORPHA:580
Pierson Syndrome	Hypertension, Hypoproteinemia, Retinal hemorrhage	OMIM:609049
Fanconi Anemia, Complementation Group C	Prolonged G2 phase of cell cycle	OMIM:227645
Zttk Syndrome	Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Cerebellar hypoplasia, Hyp...	OMIM:617140
Adams-Oliver Syndrome 1	Pulmonary artery stenosis, Hypertension, Pulmonic stenosis, Pulmonary arterial hypertension, Aort...	OMIM:100300
Myhre Syndrome	Precocious puberty, Hypertension, Hypogonadism	ORPHA:2588
Carey-Fineman-Ziter Syndrome	Hypertensive crisis	ORPHA:1358
Von Hippel-Lindau Syndrome	Hypertension, Pheochromocytoma, Paraganglioma	OMIM:193300
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Tetralogy of Fallot, Coarctation of aorta, Hypertension, Hyperbilirubinemia, Failure to thrive	OMIM:210710
Blau Syndrome	Pericarditis, Xerostomia, Large vessel vasculitis, Hypertension, Pulmonary arterial hypertension,...	ORPHA:90340
Orofaciodigital Syndrome Type 1	Hypertension, Vascular dilatation, Exocrine pancreatic insufficiency	ORPHA:2750
Renal Agenesis	Hypertension	ORPHA:411709
Neurofibromatosis, Type I	Parathyroid adenoma, Hypertension, Pheochromocytoma, Renal artery stenosis	OMIM:162200
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hypertension, Failure to thrive	OMIM:266920
Scalp-Ear-Nipple Syndrome	Supraventricular tachycardia, Hypertension, Congestive heart failure, Hypohidrosis	OMIM:181270
Yunis-Varon Syndrome	Renovascular hypertension, Hypertension, Cardiomyopathy, Renal artery stenosis, Severe failure to...	ORPHA:3472
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Failure to thrive in infancy, Dysplastic corpus callosum, Simplified gyral pattern, Dysphagia, Ab...	ORPHA:500150
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormality of the diencephalon, Microcephaly	ORPHA:2165
Scalp-Ear-Nipple Syndrome	Type I diabetes mellitus, Hypertension, Hypohidrosis	ORPHA:2036
Hydranencephaly	Dysgenesis of the thalamus, Thalamic edema, Opisthotonus, Primary microcephaly, Intrauterine grow...	ORPHA:2177
Fanconi Anemia, Complementation Group D2	Prolonged G2 phase of cell cycle	OMIM:227646
Witteveen-Kolk Syndrome	Branchial fistula, Hyperactivity, Small for gestational age, Unilateral cryptorchidism, Decreased...	OMIM:613406
Holoprosencephaly 7	Microcephaly, Partial agenesis of the corpus callosum, Panhypopituitarism, Fusion of the left and...	OMIM:610828
Neurofibromatosis Type 1	Abnormality of the endocrine system, Precocious puberty, Arterial stenosis, Hypertension, Pheochr...	ORPHA:636
Congenital Disorder Of Glycosylation, Type Iim	Hypertension, Neonatal hyperbilirubinemia	OMIM:300896
Pallister-Hall Syndrome	Abnormal basal ganglia MRI signal intensity, Decreased testicular size, Large for gestational age...	ORPHA:672
Denys-Drash Syndrome	Hypertension	OMIM:194080
Pallister-Hall Syndrome	Decreased response to growth hormone stimulation test, Cryptorchidism, Hypothalamic hamartoma, In...	OMIM:146510
Blau Syndrome	Hypertension, Pericarditis	OMIM:186580
Keutel Syndrome	Hypertension, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Pulmonic stenosis	OMIM:245150
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Ataxia, Dysesthesia, Impaired proprioception, Abnormal...	ORPHA:79138
Arima Syndrome	Hypertension	OMIM:243910
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:91500
Acute Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials	ORPHA:529799
Chronic Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials	ORPHA:529808
Systemic Lupus Erythematosus	Raynaud phenomenon, Hypertension	ORPHA:536
Renal Dysplasia	Hypertension	ORPHA:93108
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Thalamic hemorrhage, Cerebral calcification, Abnormal basal ganglia morphology	ORPHA:464321
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Hypertension, Corneal neovascularization, Hypohidrosis	OMIM:308205

Histopathology

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

There is no histopathology data for Cul3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cul3.

No publications found that use IMPC mice or data for Cul3.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Cul3^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Cul3^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cul3^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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