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Gene: Klhl3 MGI:2445185

Gene Summary

Name:

kelch-like 3

Synonyms:

7530408C15Rik, EG627648

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
increased heart weight	Klhl3^{tm1b(KOMP)Wtsi}	HOM	Early adult	5.73×10^-05
increased circulating alkaline phosphatase level	Klhl3^{tm1b(KOMP)Wtsi}	HOM	Early adult	4.06×10^-06
increased circulating potassium level	Klhl3^{tm1b(KOMP)Wtsi}	HOM	Early adult	4.21×10^-20
decreased hemoglobin content	Klhl3^{tm1b(KOMP)Wtsi}	HOM	Early adult	6.57×10^-08

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	Wholemount images	heterozygote	100% (2 of 2)
Brain	Wholemount images	heterozygote	100% (2 of 2)
Brainstem	Wholemount images	heterozygote	100% (2 of 2)
Cerebellum	Wholemount images	heterozygote	100% (2 of 2)
Cerebral cortex	Wholemount images	heterozygote	100% (2 of 2)
Heart	Wholemount images	heterozygote	100% (2 of 2)
Hippocampus	Wholemount images	heterozygote	100% (2 of 2)
Hypothalamus	Wholemount images	heterozygote	100% (2 of 2)
Kidney	Wholemount images	heterozygote	100% (2 of 2)
Lung	Wholemount images	heterozygote	100% (2 of 2)
Olfactory lobe	Wholemount images	heterozygote	100% (2 of 2)
Oviduct	Wholemount images	heterozygote	50% (1 of 2)
Parathyroid gland	Wholemount images	heterozygote	100% (2 of 2)
Peripheral nervous system	Wholemount images	heterozygote	100% (2 of 2)
Spinal cord	Wholemount images	heterozygote	100% (2 of 2)
Striatum	Wholemount images	heterozygote	100% (2 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Oral epithelium	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	Ambiguous
Brain	N/A	homozygote	Ambiguous
Ear	N/A	heterozygote	Ambiguous
Ear	N/A	homozygote	Ambiguous
Embryo	N/A	heterozygote	Ambiguous
Embryo	N/A	homozygote	Ambiguous
Eye	N/A	heterozygote	Ambiguous
Eye	N/A	homozygote	Ambiguous
Footplate	N/A	heterozygote	Ambiguous
Footplate	N/A	homozygote	Ambiguous
Forebrain	N/A	heterozygote	Ambiguous
Forebrain	N/A	homozygote	Ambiguous
Forelimb	N/A	heterozygote	Ambiguous
Forelimb	N/A	homozygote	Ambiguous
Handplate	N/A	heterozygote	Ambiguous
Handplate	N/A	homozygote	Ambiguous
Head	N/A	heterozygote	Ambiguous
Head	N/A	homozygote	Ambiguous
Heart	N/A	heterozygote	Ambiguous
Heart	N/A	homozygote	Ambiguous
Hindbrain	N/A	heterozygote	Ambiguous
Hindbrain	N/A	homozygote	Ambiguous
Hindlimb	N/A	heterozygote	Ambiguous
Hindlimb	N/A	homozygote	Ambiguous
Liver	N/A	heterozygote	Ambiguous
Liver	N/A	homozygote	Ambiguous
Lung	N/A	heterozygote	Ambiguous
Lung	N/A	homozygote	Ambiguous
Mandibular process	N/A	heterozygote	Ambiguous
Mandibular process	N/A	homozygote	Ambiguous
Maxillary process	N/A	heterozygote	Ambiguous
Maxillary process	N/A	homozygote	Ambiguous
Midbrain	N/A	heterozygote	Ambiguous
Midbrain	N/A	homozygote	Ambiguous
Oral cavity	N/A	heterozygote	Ambiguous
Oral cavity	N/A	homozygote	Ambiguous
Skin	N/A	heterozygote	Ambiguous
Skin	N/A	homozygote	Ambiguous
Tail somite	N/A	heterozygote	Ambiguous
Tail somite	N/A	homozygote	Ambiguous
Tail	N/A	heterozygote	Ambiguous
Tail	N/A	homozygote	Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
vascular system	0.0%
white adipose tissue	0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

Associated Images

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

Echo

M-Mode Images

32 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

Embryo LacZ

LacZ images wholemount

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

Adult LacZ

LacZ Images Wholemount

12 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

Auditory Brain Stem Response

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

4 Images

View images

Human diseases caused by Klhl3 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 Klhl3 (1 diseases)
Human diseases predicted to be associated with Klhl3 (889 diseases)

The table below shows human diseases associated to Klhl3 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Pseudohypoaldosteronism, Type Iid		Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Hyperchloremic metabolic aci...	OMIM:614495

The table below shows human diseases predicted to be associated to Klhl3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Pseudohypoaldosteronism, Type Iia	Hyperchloremic acidosis, Hypertension, Hyperkalemia	OMIM:145260
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
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Hypertension, Essential	Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure	OMIM:145500
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Metabolic acidosis, Hyperaldosteronism, Increased circulating renin l...	OMIM:620125
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Renal salt wasting, Hyperkalemia, Metabolic acidosis, Hyperactive renin-angiotensin...	OMIM:264350
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Metabolic acidosis, Hyperactive renin-angiotensin system, Hyperaldost...	OMIM:177735
Hyperaldosteronism, Familial, Type Ii	Hypertension, Hypokalemia, Hyperaldosteronism	OMIM:605635
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Metabolic acidosis, Hyperaldosteronism, Increased circulating renin l...	OMIM:620126
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Elevated circulating creatine kinase concentration, Mixed respiratory and metabolic ...	OMIM:145600
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Polyuria, Hypercalciuria, Metabolic acidosis, Hypertension, Hypokalemia, Hyp...	OMIM:613677
Hypokalemic Tubulopathy And Deafness	Acidosis, Increased circulating renin level, Hyperaldosteronism, Renal salt wasting	OMIM:619406
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Epistaxis, Metabolic alkalosis, Glucocortocoid-insensitive primary hyperaldo...	ORPHA:404
Isovaleric Acidemia	Metabolic acidosis	ORPHA:33
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Renal salt was...	OMIM:610600
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I...	ORPHA:556037
Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Renal salt wasting, Decreased urinary potassium, Hyperkale...	ORPHA:427
Liddle Syndrome 2	Metabolic alkalosis, Hypertension, Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Metabolic alkalosis, Hypertension, Hypokalemia, Decreased circulating renin level	OMIM:618126
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ...	ORPHA:199296
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Elevated circulating aspartate aminotransferase concentration, Conjuga...	OMIM:618528
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Metabolic alkalosis, Elevated serum bicarbonate concentration, Alkalosis, Hypochlor...	OMIM:214700
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased urinary potassium, Metabolic alkalosis, Glucocortocoid-insensitive primary h...	ORPHA:231625
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Metabolic alkalosis, Glucocortocoid-insens...	ORPHA:251274
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I...	ORPHA:556030
Malignant Hyperthermia, Susceptibility To, 2	Lactic acidosis, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Ventricular arrhythmia	OMIM:141000
Pseudohypoaldosteronism Type 2	Hypertension, Hyperkalemia	ORPHA:757
Hsd10 Disease, Neonatal Type	Abnormal circulating enzyme concentration or activity, Metabolic acidosis, Lactic acidosis, Hyper...	ORPHA:391457
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Hypokalemic metabolic alkalos...	OMIM:607364
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hypotension, D...	OMIM:203400
Hemoglobin H Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Abnormality of the urinary system, Hyp...	OMIM:103900
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Elevated circulating creatine kinase concentration, Hyperkalemia, Increased circulating lactate d...	OMIM:268200
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Hypokalemic hypochloremic metabolic alkalosi...	OMIM:613090
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Malignant Hyperthermia, Susceptibility To, 3	Lactic acidosis, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Ectopic Aldosterone-Producing Tumor	Epistaxis, Metabolic alkalosis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi...	ORPHA:231632
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Metabolic acid...	ORPHA:171876
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Metabolic alkalosis, Glucocortocoid-...	ORPHA:231580
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Elevated circulating aspartate aminotransferase concentration, Increased serum lactate, Elevated ...	OMIM:615158
Liddle Syndrome 1	Hypertension, Hypokalemic alkalosis, Hypokalemia, Decreased circulating renin level	OMIM:177200
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Epistaxis, Metabolic alkalosis, Nephrolithiasis, Abnormal circulating renin,...	ORPHA:369929
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Metabolic...	OMIM:620152
East Syndrome	Renal salt wasting, Renal magnesium wasting, Metabolic alkalosis, Enuresis, Hypokalemia, Hyperald...	ORPHA:199343
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Hyper...	OMIM:614736
Intracranial Hypertension, Idiopathic	Hypertension	OMIM:243200
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevate...	OMIM:619386
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypokalemic metabolic alkalosis, Polyuria, Renal salt wasting, Elevated serum bicarbonate concent...	OMIM:612780
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension...	ORPHA:403
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Metabolic acidosis, Increased level of L-pyroglutamic acid in urine, Glyoxalase deficiency, Reduc...	OMIM:231900
Abdominal Obesity-Metabolic Syndrome 1	Hypertension	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Hypertension	OMIM:605572
Genetic Recurrent Myoglobinuria	Dark urine, Elevated hepatic transaminase, Renal insufficiency, Recurrent myoglobinuria, Exercise...	ORPHA:99845
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Renal Hypoplasia, Bilateral	Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Renal hypoplasia, Renal cyst, Ol...	ORPHA:97362
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hyperamylasemia, Bicarbonate-wasting renal tubular acidosis, Proximal renal tubular acidosis, Met...	OMIM:604278
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Adrenal hypoplasia, Adrenal insufficiency	OMIM:240200
Phenformin 4-Hydroxylation	Lactic acidosis	OMIM:261590
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Acidosis, Stage 5 chronic kidney disease, Lobul...	OMIM:137950
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Metabolic alkalosis, Nephrolithiasis, Hypertension, Second degree atrioventricular block, Hypokal...	OMIM:615474
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Increased serum lactate, Lactic acidosis, Low-output congestive heart failure, Metabolic acidosis...	ORPHA:91130
Malignant Hyperthermia, Susceptibility To, 4	Acidosis	OMIM:600467
Familial Pseudohyperkalemia	Hypertension, Hyperkalemia	ORPHA:90044
Pyruvate Dehydrogenase Phosphatase Deficiency	Increased serum lactate, Lacticaciduria, Hyperprolinemia, Lactic acidosis, Hyperalaninemia	ORPHA:79246
Combined Oxidative Phosphorylation Deficiency 9	Elevated lactate:pyruvate ratio, Elevated circulating aspartate aminotransferase concentration, I...	OMIM:614582
Glycogen Storage Disease Due To Aldolase A Deficiency	Elevated creatine kinase after exercise, Reduced circulating aldolase concentration, Hyperkalemia...	ORPHA:57
Blue Diaper Syndrome	Elevated hepatic transaminase, Hypercalcemia, Elevated circulating thyroid-stimulating hormone co...	ORPHA:94086
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Mitochondrial Complex I Deficiency, Nuclear Type 24	Increased serum lactate	OMIM:618245
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, High-output congestive heart failure, Myoglobinuria, Ventricular tachycard...	ORPHA:423
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated lactate:pyruvate ratio, Elevated urinary 4-hydroxybutyric acid, Lacticaciduria, Hyperpro...	OMIM:619003
Hawkinsinuria	4-hydroxyphenylacetic aciduria, Abnormal circulating tyrosine concentration, 4-Hydroxyphenylpyruv...	ORPHA:2118
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Hypokalemic hypoc...	OMIM:602522
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Neuroleptic Malignant Syndrome	Elevated circulating creatine kinase concentration, Urinary incontinence, Pulmonary embolism, Hyp...	ORPHA:94093
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:604765
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Bartter Syndrome, Type 1, Antenatal	Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Incr...	OMIM:601678
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Bartter Syndrome Type 4	Hyponatremia, Hypokalemic metabolic alkalosis, Renal salt wasting, Increased urinary potassium, I...	ORPHA:89938
Acute Adrenal Insufficiency	Hyponatremia, Orthostatic hypotension, Renal insufficiency, Decreased circulating cortisol level,...	ORPHA:95409
Galactosemia I	Hypergonadotropic hypogonadism, Elevated circulating aspartate aminotransferase concentration, El...	OMIM:230400
Polycystic Kidney Disease 7	Hypertension, Renal insufficiency, Multiple renal cysts, Stage 5 chronic kidney disease	OMIM:620056
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Elevated hepatic transaminase, Increased serum lactate, Hyperammonemia,...	OMIM:615160
Hyperaldosteronism, Familial, Type Iv	Hypertension, Hyperaldosteronism	OMIM:617027
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Increased urine succinate level, Elevated circulating aspartate aminotransferase concentration, I...	OMIM:619048
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Lactic acidosis, Hypertrophic cardiomyopathy	OMIM:614053
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Hyperparathyroidism, Elevated circulating creatinine concentratio...	OMIM:620366
Apparent Mineralocorticoid Excess	Metabolic alkalosis, Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decrease...	OMIM:218030
Mitochondrial Complex I Deficiency, Nuclear Type 30	Metabolic acidosis, Congestive heart failure	OMIM:301021
Sulfide:Quinone Oxidoreductase Deficiency	Lactic acidosis, Elevated circulating creatine kinase concentration	OMIM:619221
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Elevated hepatic transaminase, Ketoacidosis, Lactic acidosis, Metabolic...	OMIM:246900
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypokalemic metabolic alkalosis, Sudden cardiac death, Congestive heart failure, Abnormal renal t...	ORPHA:73224
Tricarboxylic Acid Cycle, Defect Of	Persistent lactic acidosis	OMIM:275370
Mitochondrial Complex Iv Deficiency, Nuclear Type 18	Increased serum pyruvate, Increased serum lactate	OMIM:619062
Liddle Syndrome	Hypertension, Arrhythmia, Hypokalemia, Cerebral ischemia	ORPHA:526
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Metabolic acidosis, Hyperalaninemia	ORPHA:2597
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Recurrent urinary tract...	ORPHA:361
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l...	OMIM:300971
Lipoyltransferase 1 Deficiency	Elevated hepatic transaminase, Increased serum lactate, Hyperglutaminemia, Lacticaciduria, Hyperp...	OMIM:616299
Intellectual Developmental Disorder, Autosomal Recessive 1	Increased serum lactate	OMIM:249500
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Combined Oxidative Phosphorylation Deficiency 16	Increased serum lactate, Hypertrophic cardiomyopathy, Elevated circulating alanine aminotransfera...	OMIM:615395
Coronary Artery Disease, Autosomal Dominant, 1	Hypertension, Hypercholesterolemia, Myocardial infarction	OMIM:608320
Combined Oxidative Phosphorylation Deficiency 30	Elevated lactate:pyruvate ratio, Elevated circulating aspartate aminotransferase concentration, I...	OMIM:616974
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypospadias, Renal salt wasting, Increased ci...	ORPHA:90791
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Chronic lactic acidosis, ...	OMIM:603358
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Respiratory alkalosis, Low plasma citrulline, Lactic acidosis, Elevated urine acetoacetic acid le...	OMIM:615751
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Isolated Glycerol Kinase Deficiency	Metabolic acidosis, Elevated circulating creatine kinase concentration, Adrenocortical hypoplasia	ORPHA:408
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Renal insufficiency, Congestive h...	ORPHA:31826
Succinic Acidemia	Lactic acidosis	OMIM:600335
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti...	ORPHA:289548
Mitochondrial Myopathy, Lethal, Infantile	Lactic acidosis	OMIM:551000
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Increased circulati...	ORPHA:168558
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia	ORPHA:3319
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Renal salt wasting, Acidosis, Hyponatremia, Hypovolemia, Elevated circulat...	ORPHA:275761
Ethanolaminosis	Cardiomegaly	OMIM:227150
Dihydropyrimidinase Deficiency	Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Meta...	OMIM:222748
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemic alkalosis, Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Incre...	OMIM:241150
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevated circulating crea...	OMIM:620300
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism, Renal salt wasting	OMIM:613743
Addison Disease	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti...	ORPHA:85138
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypoparathyroidism, Orthostatic hypotension, Decreased circulating cortisol level, ...	ORPHA:199299
3-Hydroxyisobutyric Aciduria	Ketoacidosis, Lactic acidosis, Episodic ketoacidosis	OMIM:236795
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Combined Oxidative Phosphorylation Deficiency 8	Increased serum lactate, Congestive heart failure, Lactic acidosis, Metabolic acidosis, Reduced l...	OMIM:614096
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Increased serum lactate, Elevated circulating creatine kinase concentration	OMIM:616209
Hyperkalemic Periodic Paralysis	Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Hyper...	ORPHA:682
Combined Oxidative Phosphorylation Deficiency 34	Hypergonadotropic hypogonadism, Increased serum lactate, Elevated circulating thyroid-stimulating...	OMIM:617872
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Hypokalemic metabolic alkalosis, Increased serum prostaglandin E2, Polyuria, Re...	OMIM:241200
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra...	OMIM:614723
Pyruvate Dehydrogenase E1-Beta Deficiency	Lactic acidosis, Hyperammonemia	OMIM:614111
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Lactic acidosis, Dicarboxylic aciduria, Metabol...	OMIM:615026
Combined Oxidative Phosphorylation Deficiency 23	Increased serum lactate, Congestive heart failure, Dilated cardiomyopathy, Lactic acidosis, Arrhy...	OMIM:616198
Acetyl-Coa Acetyltransferase-2 Deficiency	Increased serum lactate, Increased serum pyruvate	OMIM:614055
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypercalciuria, Nephrocalcinosis, Metabolic acidosis, Hypokalemia, Distal renal tubular acidosis	OMIM:602722
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Renal salt wasting, Hyperkalemic metabolic acidosis, Premat...	ORPHA:90794
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Metabolic acidosis, Bradycardia, Hyp...	OMIM:617222
Focal Segmental Glomerulosclerosis 5	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Mi...	OMIM:613237
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyperhidrosis, Tubulointers...	ORPHA:358
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate, Severe lactic acidosis	OMIM:616111
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypouricemia, N...	OMIM:616026
Apparent Mineralocorticoid Excess	Hypokalemic metabolic alkalosis, Renal insufficiency, Abnormal urine sodium concentration, Nephro...	ORPHA:320
Mitochondrial Complex I Deficiency, Nuclear Type 22	Elevated lactate:pyruvate ratio, Lactic acidosis, Hypertrophic cardiomyopathy	OMIM:618243
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Hypertension	OMIM:607832
Corticosteroid-Binding Globulin Deficiency	Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypokalemia, Hyp...	OMIM:611489
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Metabolic acidosis, Cardiomyopathy, Ethylmaloni...	ORPHA:26792
Cyanosis, Transient Neonatal	Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis	OMIM:613977
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Increased serum lactate, Congestive heart failure, Lactic acidosi...	OMIM:618234
Lactic Acidosis, Chronic Adult Form	Hyperuricemia, Chronic lactic acidosis	OMIM:150170
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ...	ORPHA:54370
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Abnormality of acid-base homeostasis, Myocarditis, Congestive ...	ORPHA:31824
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Elevated hepatic transaminase, Abnormal cardia...	ORPHA:2394
Fanconi-Bickel Syndrome	Chronic acidosis, Elevated gamma-glutamyltransferase level, Acidosis, Ketonuria, Hypouricemia, El...	OMIM:227810
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Sudden cardiac death, Myocardial infarction, Increased LDL cholesterol conc...	OMIM:610947
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Hyperkalemia, Renal hypoplasia, Hypertension...	OMIM:617595
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Tiglic Acidemia	Acidosis	OMIM:275190
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension	OMIM:166990
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Increased circulating dehydr...	OMIM:201810
Combined Oxidative Phosphorylation Deficiency 28	Increased serum pyruvate, Congestive heart failure, Increased serum lactate, Severe lactic acidosis	OMIM:616794
Cardiomyopathy, Dilated, 2C	Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopat...	OMIM:618189
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyroto...	ORPHA:79102
Pheochromocytoma/Paraganglioma Syndrome 6	Hypertension	OMIM:618464
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Anhidrosis, Acute kidney injury, Elevated circulating creatine kinase conc...	ORPHA:466650
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Metabo...	OMIM:611555
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis...	ORPHA:340
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hypertensio...	OMIM:601894
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria, Hypertension	ORPHA:2820
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hypertriglyceridemia, Lactic acidosis, Hyperuricemia, Hypercholest...	OMIM:306000
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ...	OMIM:613239
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Glutathione Synthetase Deficiency	Chronic metabolic acidosis	ORPHA:32
Nail-Patella-Like Renal Disease	Hypertension, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:2613
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Jaundice, Hyperkalemia, ...	ORPHA:90790
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Elevated circulating creatine kinase concentration, Ketoacidosis, Dilated cardiomyopathy, Hyperam...	OMIM:618120
Mitochondrial Myopathy With Lactic Acidosis	Increased serum pyruvate, Lactic acidosis, Elevated serum anion gap, Increased serum lactate	OMIM:251950
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Metabolic acidosis, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Hy...	OMIM:611590
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypertension, Glycosuria, Aminoaciduria, Hypophospha...	OMIM:618913
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Increased serum lactate, Metabolic acidosis, Pancreatitis, Hyperammonemia	OMIM:620137
Preeclampsia/Eclampsia 1	Hypertension, Proteinuria	OMIM:189800
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Metabolic acidosis, Glycosuria,...	OMIM:615605
Oxoglutarate Dehydrogenase Deficiency	Increased serum lactate, Metabolic acidosis, Congenital lactic acidosis	OMIM:203740
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Increased circulati...	ORPHA:766
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, Reduced renal corticom...	OMIM:617610
Renal Tubular Acidosis, Proximal	Hyperchloremic acidosis, Renal tubular acidosis, Proximal renal tubular acidosis	OMIM:179830
Hypocalcemia, Autosomal Dominant 1	Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Nephrocalcinosi...	OMIM:601198
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav...	ORPHA:101016
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Lactic acidosis, Organic aciduria, Increased serum lactate	OMIM:614741
Sulfite Oxidase Deficiency, Isolated	Sulfocysteinuria, Elevated circulating creatine kinase concentration, Increased urinary sulfite l...	OMIM:272300
Mitochondrial Complex I Deficiency, Nuclear Type 34	Metabolic acidosis, Lactic acidosis	OMIM:618776
Juvenile Nephropathic Cystinosis	Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem...	ORPHA:411634
2P21 Microdeletion Syndrome	Nephrolithiasis, Cystinuria, Lactic acidosis, Hypogonadism, Hypocalcemia	ORPHA:163693
Methylmalonyl-Coa Epimerase Deficiency	Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine concentration, Metab...	OMIM:251120
Acute Peripheral Arterial Occlusion	Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc...	ORPHA:90064
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ...	OMIM:615703
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c...	OMIM:613095
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Elevated hepatic transaminase, Elevated lactate:pyruvate ratio, Ketonuria,...	OMIM:615453
Lactase Deficiency, Congenital	Metabolic acidosis	OMIM:223000
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:603278
Fanconi-Bickel Syndrome	Hyperphosphaturia, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating aspartate aminot...	ORPHA:2088
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti...	OMIM:613673
D-Glyceric Aciduria	Abnormal circulating enzyme concentration or activity, Increased circulating free fatty acid leve...	ORPHA:941
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis	OMIM:613944
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Metabolic acidosis, Lactic acidosis, Reduced left ...	OMIM:616501
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat...	ORPHA:31825
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Lactic acidosis, Decreased circulating ferritin concentration	ORPHA:330054
Fibronectin Glomerulopathy	Renal insufficiency, Proteinuria, Cerebral hemorrhage, Nephrotic syndrome, Hypertension, Hypoalbu...	ORPHA:84090
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Increased serum lactate, Metabolic acidosis	OMIM:610090
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Increased serum lactate, Chronic lactic acidosis, Lactic acidosis, Meta...	OMIM:312170
Mitochondrial Phosphate Carrier Deficiency	Metabolic acidosis, Lactic acidosis, Hypertrophic cardiomyopathy	OMIM:610773
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Increased serum lactate, Hyperprolinemia, Lactic acidosis, Cardiomyopat...	OMIM:619046
Triokinase And Fmn Cyclase Deficiency Syndrome	Reduced systolic function, Dilated cardiomyopathy, Elevated circulating alanine aminotransferase ...	OMIM:618805
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Proteinuria, Conjugated hyperbilirubinemia, ...	OMIM:613404
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,...	ORPHA:293978
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Methylmalonic acidemia, Elevated hepatic transaminase, Dicarboxylic acidur...	ORPHA:289504
Hsd10 Mitochondrial Disease	Elevated circulating tiglylglycine concentration, Lactic acidosis, Hypertrophic cardiomyopathy, M...	OMIM:300438
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hypogonadism, Ad...	OMIM:617053
Iga Nephropathy, Susceptibility To, 3	Hematuria, Hypertension, Proteinuria, Stage 5 chronic kidney disease	OMIM:616818
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2	Lacunar stroke, Hypertension, Transient ischemic attack	OMIM:616779
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Tricuspid regurgitation, Increased serum lactate, Hyperammonemia, Lactic acidosis, Pulmonary arte...	OMIM:619051
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Proteinuria, Abnormality of the kidney, Hyperlipidemia, Postprandi...	ORPHA:369
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy, Renal insufficiency, Fatal liver failure in infancy, Severe lactic acidosis	ORPHA:254857
Combined Oxidative Phosphorylation Deficiency 10	Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Bradycardia, Hypera...	OMIM:614702
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Mitochondrial Myopathy, Infantile, Transient	Increased serum pyruvate, Lactic acidosis, Increased serum lactate, Elevated circulating creatine...	OMIM:500009
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Increased serum lactate, Proximal renal tubular acidosis, Lactic acidos...	OMIM:266150
Combined Oxidative Phosphorylation Deficiency 38	Wolff-Parkinson-White syndrome, Increased serum lactate, Lactic acidosis, Hyperalaninemia, Hypert...	OMIM:618378
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Increased serum pyruvate, Hyperalaninemia, Lactic acidosis, Metabolic acidosis	OMIM:245349
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Increased serum lactate, Hematuria, Hypertension, Second degree atrioventricular block, Lactic ac...	OMIM:617021
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Mitochondrial Complex I Deficiency, Nuclear Type 15	Increased serum lactate, Hypertrophic cardiomyopathy, Metabolic acidosis	OMIM:618237
Mitochondrial Complex I Deficiency, Nuclear Type 6	Increased serum lactate, Lactic acidosis, Metabolic acidosis, Severe lactic acidosis, Hypertrophi...	OMIM:618228
Combined Oxidative Phosphorylation Deficiency 1	Increased serum lactate, Fulminant hepatic failure, Metabolic acidosis, Elevated lactate:pyruvate...	OMIM:609060
Combined Oxidative Phosphorylation Deficiency 17	Lactic acidosis, Congestive heart failure, Hypertrophic cardiomyopathy	OMIM:615440
3-Methylglutaconic Aciduria Type 4	Lactic acidosis, Cardiomyopathy, 3-Methylglutaconic aciduria, Decreased liver function	ORPHA:67048
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Hyperthyroidism, Hypokalemia, Palpitations, Goiter	OMIM:188580
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Hypertension, Decreased circulating renin level	OMIM:605115
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Lactic acidosis, Hypertrophic cardiomyopathy, Organic aciduria	OMIM:617184
Cystic Hamartoma Of Lung And Kidney	Hypertension, Multicystic kidney dysplasia	ORPHA:2111
Glycogen Storage Disease Xi	Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration...	OMIM:612933
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Pyridoxal Phosphate-Responsive Seizures	Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentration, Abnormal...	ORPHA:79096
Melorheostosis With Osteopoikilosis	Hypertension	ORPHA:1879
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea...	ORPHA:3337
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated hepatic transaminase, Ketonuria, Cardiac arrest, Elevated circulating creatine kinase co...	OMIM:616878
Coenzyme Q10 Deficiency, Primary, 3	Increased serum lactate, Nephrotic syndrome, Hypoalbuminemia, Proteinuria	OMIM:614652
Trimethylaminuria	Hypertension, Tachycardia, Trimethylaminuria	OMIM:602079
Renal Tubular Acidosis Iii	Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis	OMIM:267200
Glutathione Synthetase Deficiency	Increased level of L-pyroglutamic acid in urine, Chronic metabolic acidosis, Reduced glutathione ...	OMIM:266130
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Maternally-Inherited Diabetes And Deafness	Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Arrhythmia, Hypertrophi...	ORPHA:225
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Abnormal circulating enzyme concentration or activity, Increased serum lactate, Congestive heart ...	ORPHA:70472
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Acute hepatic failure, Elevated hepatic transaminase, Dicarboxyli...	OMIM:613070
Mitochondrial Complex I Deficiency, Nuclear Type 4	Increased serum pyruvate, Increased serum lactate, Metabolic acidosis	OMIM:618225
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Abnormality...	ORPHA:848
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Lactic acidosis, Increased serum lactate, Elevated circulating creatine kinase concentration, Hyp...	OMIM:618416
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Nephrocalcinosis, Hyper...	OMIM:614473
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Elevated creatine kinase after exercise, Di...	ORPHA:99901
Brachydactyly-Arterial Hypertension Syndrome	Hypertension	ORPHA:1276
Cholera	Hyponatremia, Tachycardia, Abnormality of renal excretion, Acidosis, Abnormal blood ion concentra...	ORPHA:173
Gracile Syndrome	Increased circulating ferritin concentration, Lactic acidosis, Renal Fanconi syndrome, Elevated h...	ORPHA:53693
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp...	OMIM:540000
Combined Oxidative Phosphorylation Deficiency 31	Lactic acidosis, Hyperalaninemia, Hypertrophic cardiomyopathy, Increased serum lactate	OMIM:617228
Mitochondrial Complex I Deficiency, Nuclear Type 14	Increased serum lactate, Lactic acidosis, Hypertrophic cardiomyopathy	OMIM:618236
Mitochondrial Complex I Deficiency, Nuclear Type 13	Cardiac arrest, Metabolic acidosis, Bradycardia, Hypertrophic cardiomyopathy, Acidosis	OMIM:618235
Glucocorticoid Resistance, Generalized	Metabolic alkalosis, Increased circulating ACTH level, Hypertension, Increased circulating cortis...	OMIM:615962
Combined Oxidative Phosphorylation Deficiency 5	Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Hypertrophic cardio...	OMIM:611719
Propionic Acidemia	Increased level of hippuric acid in urine, Cerebellar hemorrhage, Hyperglycinuria, Hyperammonemia...	OMIM:606054
2,4-Dienoyl-Coa Reductase Deficiency	Increased serum lactate, Metabolic acidosis, Hyperlysinuria, Reduced liver 2,4-dienoyl-CoA reduct...	OMIM:616034
Hydroxykynureninuria	Tachycardia, Abnormal circulating tryptophan concentration, Metabolic acidosis, Renal tubular aci...	ORPHA:79155
Malonyl-Coa Decarboxylase Deficiency	Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy, Methylmalonic aciduria, La...	OMIM:248360
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Increased serum pyruvate, Increased serum lactate	OMIM:545000
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Cardiomegaly	ORPHA:88643
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Acute pancreatitis, Elevated circulating creatine kinase concentra...	ORPHA:26791
Lessel-Kubisch Syndrome	Hypertension, Renal insufficiency, Renal hypoplasia	OMIM:618681
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Abnormal ...	ORPHA:411629
Cystinosis	Renal insufficiency, Proteinuria, Portal hypertension, Nephrogenic diabetes insipidus, Renal tubu...	ORPHA:213
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ...	ORPHA:93598
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Lactic acidosis, Hypertrophic cardiomyopathy	ORPHA:1369
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Elevated lactate:pyruvate ratio, Elevated circulating aspartate aminotransferase concentration, E...	OMIM:245400
Multiple Mitochondrial Dysfunctions Syndrome 3	Elevated lactate:pyruvate ratio, Lactic acidosis, Metabolic acidosis, Hyperglycinemia, Beta-amino...	OMIM:615330
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, 3-hydroxydicarb...	OMIM:619355
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Lactic acidosis, Increased serum lactate, Abnormal circulating pyruvate family amino acid concent...	ORPHA:255182
Combined Oxidative Phosphorylation Deficiency 4	Increased serum lactate, Lactic acidosis, Metabolic acidosis, Hyperammonemia	OMIM:610678
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Lactic ...	OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40	Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Lactic ...	OMIM:618835
Preeclampsia	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Elevated dias...	ORPHA:275555
Hawkinsinuria	Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Metabolic acid...	OMIM:140350
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Metabolic alkalosis, Precocious puberty, I...	ORPHA:786
Hypertension And Brachydactyly Syndrome	Hypertension	OMIM:112410
Mitochondrial Complex I Deficiency, Nuclear Type 26	Increased serum lactate, Elevated lactate:pyruvate ratio, Metabolic acidosis, Lacticaciduria	OMIM:618247
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, Metabolic acidosis,...	OMIM:246450
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypertension, Cardiomyopathy, Hyperuricemia, Arrhythmia	ORPHA:3222
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Increased serum lactate, Elevated circulating creatine kinase concentration	OMIM:617069
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Increased serum pyruvate, Hyperalaninemia, Lactic acidosis, Increased serum lactate	OMIM:617668
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium...	OMIM:618314
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Conjugated hyperbilirubinemia, Jaundice, Hyperkalemia, Elevated gamma-glutamyltransferase level	OMIM:608885
Hsd10 Disease, Infantile Type	Abnormal circulating enzyme concentration or activity, Increased serum lactate, Hyperammonemia, L...	ORPHA:391428
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Lactic acidosis, Hypoalbuminemia, Elevated gamma-glutamy...	ORPHA:247598
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis	OMIM:161950
Combined Oxidative Phosphorylation Deficiency 20	Lactic acidosis, Hyperalaninemia, Hypertrophic cardiomyopathy	OMIM:615917
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Elevated hepatic transam...	OMIM:229600
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, H...	ORPHA:228308
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Ketonuria, Ketoacidosis, Hyperglycinuria, Hyperammonemia, Metabolic acidosi...	OMIM:210210
Mitochondrial Complex I Deficiency, Nuclear Type 3	Metabolic acidosis	OMIM:618224
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Abnormal circulating acylcarnitine concentration, Acute hepatic failure, D...	ORPHA:71212
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Increased ...	OMIM:606407
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Increased serum lactate, Lactic acidosis, Pulmonary arterial hypertension, Hyperglycinemia, Hyper...	OMIM:619059
Perrault Syndrome 5	Increased serum pyruvate, Increased serum lactate, Hypergonadotropic hypogonadism, Elevated circu...	OMIM:616138
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia	OMIM:154020
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Male hypogonadism, Micropenis, Decreased circulating renin ...	ORPHA:90793
Gitelman Syndrome	Prolonged QT interval, Hypokalemic alkalosis, Polyuria, Renal magnesium wasting, Ventricular tach...	OMIM:263800
Sengers Syndrome	Cardiac arrest, Sudden cardiac death, Exercise-induced lactic acidemia, Increased serum lactate, ...	OMIM:212350
Coenzyme Q10 Deficiency, Primary, 5	Lactic acidosis, Hyperalaninemia, Increased serum lactate, Bradycardia	OMIM:614654
Combined Oxidative Phosphorylation Deficiency 41	Lactic acidosis, Decreased circulating cortisol level, Elevated circulating creatine kinase conce...	OMIM:618838
Combined Oxidative Phosphorylation Deficiency 36	Elevated circulating aspartate aminotransferase concentration, Aciduria, Increased serum lactate,...	OMIM:617950
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration...	ORPHA:2364
Mitochondrial Dna Depletion Syndrome 17	Acidosis, Low plasma citrulline, Hyperammonemia, Hepatic failure	OMIM:618567
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:1345
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Metabolic acidosis, Myoglobinuria, Decreased liver function	OMIM:602199
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Diabetes mellitus, Myocarditis, Pancreatitis, Hyperkalemia, Oliguria, Hyper...	ORPHA:544482
Idiopathic Non-Lupus Full-House Nephropathy	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Elevated circulating...	ORPHA:567544
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature pubarche, Premature thelarche, Renal salt wasting...	ORPHA:90795
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Tachycardia...	ORPHA:348
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatr...	ORPHA:534
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Alpha-aminoadipic aciduria, Increased serum la...	OMIM:605711
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Nephrogenic d...	OMIM:208085
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Elevated hepatic transaminase, Tachycardia, Elevated circulating creatine ...	ORPHA:26793
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Metabolic ketoacidosis, Cerebellar hemorrhage, Stage 5 chronic kidney dis...	OMIM:251000
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Elevated ...	OMIM:171400
Adenosine Monophosphate Deaminase Deficiency	Increased serum lactate, Elevated creatine kinase after exercise	ORPHA:45
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Lactic acidosis, Aminoaciduria, Elevated circulating creatine kinase concentration	OMIM:609560
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Elevated urinary 3-hydroxybutyric acid, Increased serum lactate, Methylma...	OMIM:614105
Primary Hyperoxaluria	Elevated hepatic transaminase, Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Heart bl...	ORPHA:416
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Increased serum lacta...	OMIM:613845
Necrotizing Enterocolitis	Shock, Hyponatremia, Increased serum lactate, Metabolic acidosis, Bradycardia, Hypotension, Acidosis	ORPHA:391673
Lipodystrophy, Familial Partial, Type 5	Hypertension, Diabetic ketoacidosis, Increased C-peptide level, Hypertriglyceridemia	OMIM:615238
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Mitochondrial Complex I Deficiency, Nuclear Type 29	Elevated lactate:pyruvate ratio, Increased serum lactate, Stage 5 chronic kidney disease, Lactica...	OMIM:618250
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu...	OMIM:609015
Hypokalemic Periodic Paralysis	Impaired myocardial contractility, Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated ...	ORPHA:681
Combined Oxidative Phosphorylation Deficiency 48	Increased serum lactate, Lactic acidosis	OMIM:619012
Diarrhea 4, Malabsorptive, Congenital	Hyperchloremic metabolic acidosis	OMIM:610370
Pyruvate Dehydrogenase Phosphatase Deficiency	Lactic acidosis	OMIM:608782
Glycogen Storage Disease Ixc	Increased serum lactate, Lactic acidosis, Hypertriglyceridemia, Elevated hepatic transaminase	OMIM:613027
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Ketonuria, Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adeno...	ORPHA:79644
Combined Oxidative Phosphorylation Deficiency 19	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:615595
Hereditary Fructose Intolerance	Renal insufficiency, Reduced circulating aldolase concentration, Episodic hyperhidrosis, Jaundice...	ORPHA:469
Isovaleric Acidemia	Ketoacidosis, Cerebellar hemorrhage, Metabolic acidosis, Hyperglycinuria	OMIM:243500
Coenzyme Q10 Deficiency, Primary, 4	Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate	OMIM:612016
Mitochondrial Complex I Deficiency, Nuclear Type 7	Lactic acidosis, Hypertrophic cardiomyopathy	OMIM:618229
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria, Acidosis	OMIM:204730
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased serum lactate, Lacticaciduria, Hyperglycinemia	OMIM:619063
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypospadias, Dilated cardiomyopathy, Micropenis, Lactic acidosis, Bradycardia, Hypertrophic cardi...	OMIM:618815
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev...	OMIM:171420
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Lactic acidosis, Hypertrophic cardiomyopathy, Increased serum lactate, Elevated hepatic transaminase	OMIM:613561
Scorpion Envenomation	Bundle branch block, Respiratory alkalosis, Increased circulating NT-proBNP concentration, Hyperh...	ORPHA:466677
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Lactic acidosis, Cardiomyopathy, Hypertrophic cardiomyopathy	OMIM:615119
Combined Oxidative Phosphorylation Deficiency 47	Increased serum lactate, Metabolic acidosis, Elevated hepatic transaminase	OMIM:618958
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Increased serum pyruvate, Increased serum lactate, Congestive heart failure, Dilated cardiomyopat...	ORPHA:1349
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertension, Hypertriglyceridemia	ORPHA:71529
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Increased serum lactate, Hyperammonemia, Lactic acidosis, 3-Methylglutaconic aciduria, Hyperalani...	OMIM:614739
Adult Acute Respiratory Distress Syndrome	Shock, Vasculitis, Metabolic acidosis, Diabetic ketoacidosis, Hypotension	ORPHA:70578
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Congenital adrenal hyperplasia, Long penis, Decreased circulating aldosterone level, Adrenogenita...	OMIM:202010
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Hypertension, Hypokalemic alkalosis	OMIM:202110
Glycogen Storage Disease Ic	Renal insufficiency, Proteinuria, Spider hemangioma, Chronic pancreatitis, Hyperlipidemia, Hematu...	OMIM:232240
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Ketonuria, Increased serum lactate, Renal hypoplasia, Metabolic acidosis, Hypertrophic cardiomyop...	OMIM:619053
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Increased serum lactate, Metabolic acidosis	OMIM:617290
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Lactic acidosis, Aminoaciduria, Proximal tubulopathy, Severe lactic acidosis	OMIM:612075
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Senior-Loken Syndrome	Hypertension, Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis	ORPHA:3156
Combined Oxidative Phosphorylation Deficiency 2	Lactic acidosis, Increased serum lactate, Elevated hepatic transaminase	OMIM:610498
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Hyperammonemia, ...	OMIM:251100
Isolated Atp Synthase Deficiency	Dilated cardiomyopathy, Renal hypoplasia, Hyperammonemia, Lactic acidosis, 3-Methylglutaconic aci...	ORPHA:254913
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy...	OMIM:123550
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hypertyrosinemia, Renal insufficiency, Acute hepatic failure, Elevat...	OMIM:276700
Mitochondrial Complex I Deficiency, Nuclear Type 25	Lactic acidosis	OMIM:618246
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Elevated circulating creatine kinase concentration, Increased serum lactate, Chronic kidney disea...	ORPHA:324525
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Proteinuria, Hyperlipidemia, Nephrolithiasis, Lactic acidosis, Hyp...	OMIM:232200
3-Methylglutaconic Aciduria, Type I	Metabolic acidosis, 3-Methylglutaconic aciduria, Urinary incontinence	OMIM:250950
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Proteinuria, Atrial fibrillation, Cardiac ...	ORPHA:439232
Beta-Ketothiolase Deficiency	Ketonuria, Increased serum lactate, Ketoacidosis, Hyperammonemia, Metabolic acidosis, Hypertensio...	ORPHA:134
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Elevated circulating thyroid-stimulating hormone co...	OMIM:618183
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Cardiac arrest, Elevated circulating creatine kinase concentration...	OMIM:617713
Dietary Iron Overload Disease	Viral hepatitis, Diabetes mellitus, Congestive heart failure, Elevated transferrin saturation, In...	ORPHA:139507
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Pituitary Adenoma 4, Acth-Secreting	Pituitary adenoma, Nephrolithiasis, Alkalosis, Increased circulating ACTH level, Hypertension, Hy...	OMIM:219090
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Lactic acidosis, Metabolic acidosis, Organic aciduria, Elevated urinary 3-methylc...	OMIM:253270
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Hypercalcemia, Pituitary null cell adenoma, Pancreatic islet cell adenom...	ORPHA:97289
Nelson Syndrome	Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo...	ORPHA:199244
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Tachycardia, Proteinuria, Metabolic ketoacidosis, Abnormal circula...	ORPHA:263455
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Metabolic acidosis, Medium chain dicarboxylic aciduria, Hyperglycinuria, Elevated hepatic transam...	OMIM:201450
Glycogen Storage Disease 0, Liver	Increased serum lactate	OMIM:240600
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Decreased methionine synthase act...	OMIM:277400
Mitochondrial Complex I Deficiency, Nuclear Type 8	Increased serum lactate, Lactic acidosis, Pancreatitis	OMIM:618230
Glutaric Acidemia I	Ketonuria, Glutaric aciduria, Metabolic acidosis, Reduced peroxisomal glutaryl-CoA oxidase activi...	OMIM:231670
Moyamoya Disease With Early-Onset Achalasia	Raynaud phenomenon, Hypertension	ORPHA:401945
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Hypovolemia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephr...	ORPHA:47159
Maple Syrup Urine Disease	Increased level of hippuric acid in urine, Elevated circulating branched chain amino acid concent...	OMIM:248600
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypospadias, Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis	OMIM:618253
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Ketonuria, Low plasma citrulline, Renal steatosis, Elevated circulating alanine aminotransferase ...	OMIM:261680
Coproporphyria, Hereditary	Increased urinary porphobilinogen, Tachycardia, Hypertension, Elevated urinary delta-aminolevulin...	OMIM:121300
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Ketonuria, Methylmalonic aciduria, Hyperammonemia, Metabolic acidosis, Hy...	OMIM:251110
Glucose/Galactose Malabsorption	Metabolic acidosis, Glycosuria	OMIM:606824
Amyloidosis, Familial Visceral	Proteinuria, Hematuria, Nephrotic syndrome, Hypertension, Nephropathy	OMIM:105200
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Chronic kidney disease, Elevated circulati...	ORPHA:329918
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Increased serum lactate, Proximal renal tubular acidosis, Lactic acidosis, Metabolic acidosis, Co...	OMIM:615824
Leprechaunism	Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyroidism, Nephrocalcinosis, Hypokalem...	ORPHA:508
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Lactic acidosis, Increased serum lactate	ORPHA:139485
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Hypertension, Telangiectases producing 'marbled' skin	OMIM:206570
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia...	OMIM:618620
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Elevated hepatic transaminase, Decreased response to growth hormone stimulation tes...	ORPHA:293987
Familial Cervical Artery Dissection	Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral hemorrhage, Hypertension, ...	ORPHA:36382
Type 1 Diabetes Mellitus	Ketoacidosis, Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Glutaric Acidemia Type 3	Ketonuria, Ketoacidosis, Glutaric aciduria, Abnormality of circulating enzyme level, Elevated cir...	ORPHA:35706
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Increased urine alpha-ketoglutarate concentration, Lactic acidosis, Increased serum lactate	OMIM:614458
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Stress/infection-induced lactic acidosis, Abnormal circulating carnitine concentration, Renal tub...	ORPHA:431361
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets...	OMIM:219800
Kearns-Sayre Syndrome	Hypoparathyroidism, Diabetes mellitus, Primary adrenal insufficiency, Lactic acidosis, Renal tubu...	OMIM:530000
Mitochondrial Complex I Deficiency, Nuclear Type 17	Lactic acidosis, Increased serum lactate	OMIM:618239
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Dicarboxylic aciduria, Congestive heart failure, Dilated cardiomyo...	OMIM:611126
Helix Syndrome	Anhidrosis, Renal insufficiency, Hyperparathyroidism, Polyuria, Hypermagnesemia, Nephrolithiasis,...	OMIM:617671
Mitochondrial Complex I Deficiency, Nuclear Type 5	Lactic acidosis, Increased serum lactate, Metabolic acidosis	OMIM:618226
Secondary Intestinal Lymphangiectasia	Right ventricular failure, Reduced circulating transferrin concentration, Intestinal bleeding, Hy...	ORPHA:90363
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Increased serum lactate, Hyperprolinemia, Pulmonary arterial hyper...	OMIM:619064
Pearson Syndrome	Elevated lactate:pyruvate ratio, Decreased response to growth hormone stimulation test, Renal cys...	ORPHA:699
Coenzyme Q10 Deficiency, Primary, 2	Aortic regurgitation, Elevated lactate:pyruvate ratio, Increased serum lactate, Mitral regurgitat...	OMIM:614651
D-Glyceric Aciduria	Reduced hepatic D-glycerate kinase activity, Nonketotic hyperglycinemia, Metabolic acidosis, Amin...	OMIM:220120
Mitochondrial Complex I Deficiency, Nuclear Type 16	Lactic acidosis, Adrenal insufficiency	OMIM:618238
Coenzyme Q10 Deficiency, Primary, 8	Hypertension, Elevated circulating creatinine concentration, Abnormal renal corticomedullary diff...	OMIM:616733
Mercury Poisoning	Tachycardia, Hypertension, Hypokalemia, Hypotension, Acute kidney injury	ORPHA:330021
Enteric Anendocrinosis	Hyperchloremic metabolic acidosis, Portal hypertension	ORPHA:83620
Coenzyme Q10 Deficiency, Primary, 1	Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Hypergo...	OMIM:607426
Combined Oxidative Phosphorylation Deficiency 21	Increased serum lactate, Hyperalaninemia, Hyperprolinemia	OMIM:615918
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612924
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Elevated circulating creatine kinase concentration, Increased serum lactate, Heart murmur, Severe...	OMIM:615418
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Severe lactic acidosis, Mildly elevated creatine kinase, Decreased circulating carnitine concentr...	ORPHA:254864
3-Hydroxyisobutyric Aciduria	Lactic acidosis, Hypogonadotropic hypogonadism	ORPHA:939
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Episodic metabol...	OMIM:210200
Non-Functioning Paraganglioma	Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failu...	ORPHA:94080
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Increased serum lactate, Lactic acidosis, 3-Methylglutaconic acidu...	OMIM:618329
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Renal salt wasting, Elevated circulat...	OMIM:174000
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Proteinuria, Hyperlipidemia, Nephrolithiasis, Lactic acidosis, Hyp...	OMIM:232220
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612926
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Increased circulating lactate dehydrogenase concentration, Increased se...	OMIM:619405
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D...	OMIM:618061
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c...	OMIM:201750
Denys-Drash Syndrome	Nephrotic syndrome, Nephropathy, Proteinuria, Hypertension	ORPHA:220
Mitochondrial Myopathy And Sideroblastic Anemia	Lactic acidosis, Delayed puberty	ORPHA:2598
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Increased serum lactate, Hypothyroidism, Mildly elevated creatine kinase	ORPHA:663
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig...	OMIM:610489
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Raynaud phenomenon, Arterial...	OMIM:259900
Bacterial Toxic-Shock Syndrome	Shock, Tachycardia, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating...	ORPHA:36234
Encephalopathy, Ethylmalonic	Lactic acidosis, Elevated circulating butyrylcarnitine concentration, Ethylmalonic aciduria	OMIM:602473
Rhabdoid Tumor	Hematuria, Hypertension, Internal hemorrhage, Hypercalcemia	ORPHA:69077
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio...	OMIM:620135
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Methylmalonic acidemia, Elevated circulating creatine kinase concentration, Increased serum lacta...	OMIM:612073
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo...	OMIM:600649
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Lactic acidosis	OMIM:619065
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas...	OMIM:615954
Grange Syndrome	Aortic regurgitation, Hypertension	ORPHA:79094
Nephronophthisis 18	Tubulointerstitial nephritis, Hypertension, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:615862
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Hyperglutamatemia, Increased serum lactate, Low plasma citrulline, Hyperammonemia, Hyperprolinemi...	OMIM:620358
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Ketonuria, Elevated circulating creatine kinase concentration, Increased serum lactate, Lactic ac...	OMIM:251900
Diarrhea 12, With Microvillus Atrophy	Metabolic acidosis	OMIM:619445
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis...	OMIM:610205
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Elevated hepatic transaminase, Ketonuria, Elevated circulati...	ORPHA:480864
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Atrial fibrillation, Proteinuria, Dysuria, Chronic kidney disease, Nephrolit...	ORPHA:976
Ochoa Syndrome	Renal insufficiency, Urinary incontinence, Urethral obstruction, Hypertension, Vesicoureteral ref...	ORPHA:2704
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Acute pancreatitis, Ketonuria, Cardiac arrest, Increased serum lac...	ORPHA:20
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Nephrocalci...	OMIM:104200
Thrombotic Thrombocytopenic Purpura, Hereditary	Transient ischemic attack, Proteinuria, Myocardial infarction, Hemolytic-uremic syndrome, Increas...	OMIM:274150
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased serum pyruvate, Elevated lactate:pyruvate ratio, Cardiac arrest, Increased serum lactat...	OMIM:604377
Combined Oxidative Phosphorylation Deficiency 18	Increased serum lactate, Lactic acidosis, Methylmalonic aciduria	OMIM:615578
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Per...	OMIM:612561
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hypertension, Polycystic kidney dysplasia	OMIM:600666
Lujo Hemorrhagic Fever	Shock, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive protei...	ORPHA:319213
Sneddon Syndrome	Intracranial hemorrhage, Nephropathy, Hypertension	ORPHA:820
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Elevated circulating creatine kinase concentration, Increased serum lactate, Intraventricular hem...	OMIM:619055
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Elevated lactate:pyruvate ratio, Increased serum lactate, Stress/infection-induced lactic acidosi...	OMIM:252011
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Xerostomia, Hematochezia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Pheochromocytoma	Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev...	OMIM:171300
Potocki-Shaffer Syndrome	Hypertension, Micropenis	ORPHA:52022
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Hypertension, Renal insufficiency, Mitral regurgitation, Polycystic kidney dysplasia	OMIM:173900
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Myocardial infarction, Elevated circulating creatinine concentration, Hyper...	ORPHA:90038
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Increased serum lactate, Renal hypoplasia, Renal cyst, Lactic acidosis, Rena...	OMIM:614922
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia, Increased serum lactate, Metabolic acidosis, Patent urachus	OMIM:618252
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Increased serum lactate, Renal tubular dysfunction, Lactic acidos...	OMIM:220110
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Elevated lactate:pyruvate ratio, Hyperglutamatemia, I...	ORPHA:3008
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Increased serum lactate, Cardiomyopathy, Abnormal circulating creatine kinase concentration, Abno...	ORPHA:521411
Pituitary Apoplexy	Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	ORPHA:95613
Moyamoya Disease 6 With Or Without Achalasia	Raynaud phenomenon, Hypertension, Ischemic stroke	OMIM:615750
Lipodystrophy, Familial Partial, Type 4	Hypertension, Hypertriglyceridemia	OMIM:613877
Bronchial Neuroendocrine Tumor	Tricuspid regurgitation, Elevated circulating growth hormone concentration, Right ventricular fai...	ORPHA:97287
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl...	OMIM:300200
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Lactic acidosis, Aminoaciduria, Renal ...	ORPHA:436271
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Congestive hea...	OMIM:615895
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Dilated cardiomyopathy, Hyperhidrosis, Lactic acidosis, Hyperglycinemia, Hypertrophic cardiomyopathy	OMIM:614299
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Increased serum lactate, Abnormal medullary pyramid morphology, Lactic ...	ORPHA:79243
Lipodystrophy, Familial Partial, Type 6	Hypertension, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating crea...	OMIM:615980
Myopathy With Lactic Acidosis, Hereditary	Elevated circulating creatine kinase concentration, Increased serum lactate, Lactic acidosis, Pal...	OMIM:255125
Vipoma	Diabetes mellitus, Hypercalcemia, Follicular thyroid carcinoma, Elevated circulating growth hormo...	ORPHA:97282
Stiff Skin Syndrome	Hypertension, Abnormal circulating lipid concentration, Nephrolithiasis	ORPHA:2833
Mitochondrial Complex I Deficiency, Nuclear Type 19	Lactic acidosis, Hypertrophic cardiomyopathy	OMIM:618241
Infantile Liver Failure Syndrome 1	Lactic acidosis, Acute hepatic failure, Elevated hepatic transaminase	OMIM:615438
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hypercalciuria, Lactic acidosis, Metabolic acidosis, 3-Methylgluta...	OMIM:557000
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Plin1-Related Familial Partial Lipodystrophy	Hypertension, Hypertriglyceridemia	ORPHA:280356
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Elevated circulating creatine kinase concentration, Stress/infectio...	OMIM:618775
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,...	ORPHA:91347
Attrv122I Amyloidosis	Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ...	ORPHA:85451
Beta-Ureidopropionase Deficiency	Increased serum lactate, Elevated circulating N-carbamyl-beta-alanine concentration, Bladder exst...	OMIM:613161
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hypertrigly...	ORPHA:264580
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1	Lactic acidosis, Hyperalaninemia, Increased serum lactate, Elevated circulating hexacosanoic acid...	OMIM:614388
Fumarase Deficiency	Increased urine succinate level, Bilateral fetal pyelectasis, Decreased fumarate hydratase activi...	OMIM:606812
Fructose-1,6-Bisphosphatase Deficiency	Metabolic acidosis, Tachycardia, Increased urinary glycerol	OMIM:229700
Heme Oxygenase 1 Deficiency	Proteinuria, Epistaxis, Elevated circulating C-reactive protein concentration, Diffuse alveolar h...	OMIM:614034
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Elevated circulating acylcarnitine concentration, Increased serum lactate, Lactic acidosis, Abnor...	OMIM:615838
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Unilateral renal agenesis, Chronic kidney disea...	ORPHA:93101
Microvillus Inclusion Disease	Nephrocalcinosis, Metabolic acidosis, Hypovolemia, Abnormal renal physiology	ORPHA:2290
Yellow Fever	Shock, Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating creatine kinase conc...	ORPHA:99829
Mitochondrial Complex I Deficiency, Nuclear Type 18	Lactic acidosis, Hydroureter, Hydronephrosis	OMIM:618240
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria, Hypertension	ORPHA:1192
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated hepatic transaminase, Elevated lactate:pyruvate ratio, Increased serum...	OMIM:124000
Sepsis In Premature Infants	Tachycardia, Elevated circulating C-reactive protein concentration, Jaundice, Oliguria, Metabolic...	ORPHA:90051
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Increased urinary glycerol, Hypertriglyceridemia, Hyperglycerolemia, C...	OMIM:307030
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Elevated circulating alpha-fetoprotein concentration, Portal hyper...	OMIM:251880
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Increased serum lactate, Increased circulating ferritin concentration, Lactic acidosis, Delayed p...	OMIM:600462
Interstitial Lung And Liver Disease	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:615486
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo...	ORPHA:913
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Renal hypoplasia, Nephrocalcinosis, Hypertension, Hypokalemia, Aminoaci...	OMIM:617913
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypertension, Hypospadias, Renal salt wasting	OMIM:201910
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin...	OMIM:219080
Pigmented Nodular Adrenocortical Disease, Primary, 4	Diabetes mellitus, Adrenal hyperplasia, Hypertension, Increased circulating cortisol level, Prima...	OMIM:615830
Peripartum Cardiomyopathy	Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card...	ORPHA:563
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Increased serum lactate, Metabolic acidosis	ORPHA:88639
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Elevated hepatic transaminase, Hypospadias, Increased serum lactate, Hyperammonemia, Lactic acido...	OMIM:615471
Polyarteritis Nodosa	Pericarditis, Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Cardiomy...	ORPHA:767
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration, Elevated cir...	OMIM:619573
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypospadias, Increased serum lactate, Hyperammonemia, Lactic acidosis, Hypertension, 3-Methylglut...	OMIM:614052
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Multiple Endocrine Neoplasia, Type I	Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, ...	OMIM:131100
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Lac...	ORPHA:298
Nephronophthisis 1	Polyuria, Stage 5 chronic kidney disease, Hypertension, Hyposthenuria, Renal corticomedullary cys...	OMIM:256100
Mccune-Albright Syndrome	Abnormal endocrine physiology, Hyperphosphaturia, Hyperthyroidism, Elevated circulating growth ho...	ORPHA:562
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hypertrigly...	ORPHA:79240
Serotonin Syndrome	Tachycardia, Hyperhidrosis, Lactic acidosis, Hypertension, Hypotension, Hepatic failure, Acute ki...	ORPHA:43116
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Tricuspid regurgitation, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Lactic acidosis, Mitr...	OMIM:619167
Leigh Syndrome	Abnormal circulating enzyme concentration or activity, Increased serum lactate, Congestive heart ...	ORPHA:506
Lipodystrophy, Familial Partial, Type 1	Hypertension, Hypertriglyceridemia	OMIM:608600
Familial Partial Lipodystrophy, Köbberling Type	Hypertension	ORPHA:79084
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopath...	OMIM:231680
Rabson-Mendenhall Syndrome	Increased pineal volume, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Fas...	ORPHA:769
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestiv...	ORPHA:276621
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Lactic acidosis, Hypoalbuminemia, Internal he...	ORPHA:99826
Takayasu Arteritis	Myocardial infarction, Vasculitis, Hypertension, Cerebral ischemia, Pulmonary arterial hypertensi...	ORPHA:3287
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Coach Syndrome 2	Hypertension, Elevated circulating creatinine concentration	OMIM:619111
Congenital Short Bowel Syndrome	Metabolic acidosis, Steatorrhea	OMIM:615237
Combined Oxidative Phosphorylation Deficiency 14	Lactic acidosis, Aminoaciduria, Increased serum lactate, Elevated hepatic iron concentration	OMIM:614946
Multicentric Carpotarsal Osteolysis Syndrome	Hypertension, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease	OMIM:166300
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Elevated lactate:pyruvate ratio, Elevated circulating creatine kinase concentration...	OMIM:610505
Pyridoxine-Dependent Epilepsy	Lactic acidosis	ORPHA:3006
Ethylmalonic Encephalopathy	Lactic acidosis, Ethylmalonic aciduria	ORPHA:51188
Combined Oxidative Phosphorylation Deficiency 12	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro...	OMIM:614924
Pseudo-Torch Syndrome 3	Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytop...	OMIM:618886
Erythrocytosis, Familial, 1	Hypertension, Cerebral hemorrhage, Myocardial infarction	OMIM:133100
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Pulmon...	ORPHA:79282
Ppoma	Gastrointestinal hemorrhage, Hypercalcemia, Elevated circulating growth hormone concentration, Ab...	ORPHA:97278
Combined Oxidative Phosphorylation Deficiency 32	Lactic acidosis, Increased serum lactate, Horseshoe kidney	OMIM:617664
Cerebrooculofacioskeletal Syndrome 1	Metabolic acidosis	OMIM:214150
Somatostatinoma	Gastrointestinal hemorrhage, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormon...	ORPHA:97283
Mitochondrial Complex I Deficiency, Nuclear Type 37	Hypospadias, Increased serum lactate, Lactic acidosis, Bradycardia, Pulmonary arterial hypertension	OMIM:619272
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, Intracranial hemorrh...	ORPHA:136
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog...	ORPHA:251004
Tetanus	Tachycardia, Elevated circulating creatine kinase concentration, Elevated urinary norepinephrine ...	ORPHA:3299
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Hyperglycinemia, Lactic Acidosis, And Seizures	Lactic acidosis, Hypertrophic cardiomyopathy, Increased serum lactate	OMIM:614462
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc...	ORPHA:3453
Inflammatory Skin And Bowel Disease, Neonatal, 2	Hypertension	OMIM:616069
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Cerebral hemorrhage, Lactic acidosis, Abnormal renal corticomedull...	OMIM:617397
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Renal arte...	OMIM:208000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Abnormal circulating enzyme concentration or activity, Hypertriglyceridemia, Proteinuria, Epistax...	ORPHA:79259
Acquired Methemoglobinemia	Tachycardia, Syncope, Palpitations, Arrhythmia, Acidosis	ORPHA:464453
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Chronic kidney disease, Elevated circulating creatinine concentration, Stage...	ORPHA:730
Infant Botulism	Hyponatremia, Hypertension, Cardiac arrest, Hypotension	ORPHA:178478
Sneddon Syndrome	Hypertension, Ischemic stroke, Cerebral hemorrhage	OMIM:182410
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio...	OMIM:615812
Juvenile Paget Disease	Hypertension, Hyperuricemia	ORPHA:2801
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Elevated hepatic transaminase, Hypoplasia of penis, Increased serum lactat...	ORPHA:66634
Grfoma	Gastrointestinal hemorrhage, Hypercalcemia, Elevated circulating growth hormone concentration, Ne...	ORPHA:97261
Osteopetrosis With Renal Tubular Acidosis	Abnormal circulating enzyme concentration or activity, Elevated circulating creatine kinase conce...	ORPHA:2785
Posterior Urethral Valve	Renal insufficiency, Urinary incontinence, Dysuria, Urethral stenosis, Chronic kidney disease, St...	ORPHA:93110
Andersen Cardiodysrhythmic Periodic Paralysis	Prolonged QT interval, Hyperthyroidism, Bidirectional ventricular ectopy, Hypokalemia, Syncope, P...	OMIM:170390
Glutaric Aciduria Iii	Glutaric aciduria, Hypertension	OMIM:231690
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Increased serum lactate, Renal tubular dysfunction, Lactic acidosis, Gly...	OMIM:616539
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Increased seru...	OMIM:610131
Osteootohepatoenteric Syndrome	Proteinuria, Grade II vesicoureteral reflux, Hypokalemia, Increased serum bile acid concentration...	OMIM:619377
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir...	ORPHA:49041
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Leigh Syndrome	Lactic acidosis, Increased serum lactate	OMIM:256000
Systemic Lupus Erythematosus 17	Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis	OMIM:301080
Microcephaly, Amish Type	Lactic acidosis	OMIM:607196
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Hypertension, Micropenis, Tachycardia	OMIM:613870
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Bilateral renal hypoplasia, Elevated...	ORPHA:2260
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypertension, Hyperuricemia	OMIM:604367
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
X-Linked Hypohidrotic Ectodermal Dysplasia	Hypertension	ORPHA:181
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Melas	Wolff-Parkinson-White syndrome, Hypoparathyroidism, Diabetes mellitus, Proteinuria, Hypogonadotro...	ORPHA:550
Cirrhosis, Familial	Increased level of propylene glycol in blood, Hypertension, Pulmonary arterial hypertension, Incr...	OMIM:215600
Papillorenal Syndrome	Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary differentiation, Chr...	OMIM:120330
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Lactic acidosis, Cardiomyopathy, Increased serum lactate	OMIM:617710
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage	ORPHA:280679
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, ...	OMIM:203780
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Frasier Syndrome	Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hyperte...	ORPHA:347
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertension, Hypertriglyceridemia	ORPHA:363400
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Pulmonary embolism, Hyperlipidemia, Chronic kidney disease, St...	ORPHA:567546
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Hypertension, Hyperuricemia	ORPHA:77296
Porphyria Variegata	Hyponatremia, Neurogenic bladder, Tachycardia, Abnormal circulating porphyrin concentration, Chro...	ORPHA:79473
Familial Cerebral Saccular Aneurysm	Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage	ORPHA:231160
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Increased ser...	OMIM:619743
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Elevated hepatic transaminase, Abnormal circulating enzyme concentration ...	ORPHA:17
Amish Lethal Microcephaly	Metabolic acidosis, Organic aciduria	ORPHA:99742
Pyruvate Dehydrogenase E2 Deficiency	Lactic acidosis	OMIM:245348
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Postorgasmic Illness Syndrome	Hypertension, Palpitations	ORPHA:279947
Ganglioneuroma	Gastrointestinal hemorrhage, Hypertension	ORPHA:251992
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Elevated circulating creatinine con...	ORPHA:247691
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestiv...	ORPHA:29072
Central Hypoventilation Syndrome, Congenital, 3	Episodic hypertension	OMIM:619483
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
Glucagonoma	Gastrointestinal hemorrhage, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormon...	ORPHA:97280
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lactic acidosis	OMIM:618232
Renal Dysplasia	Multicystic kidney dysplasia, Abnormal renal calyx morphology, Renal insufficiency, Urinary incon...	ORPHA:93108
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,...	OMIM:235400
Mccune-Albright Syndrome	Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio...	OMIM:174800
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Lactic acidosis	ORPHA:1170
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension...	OMIM:223900
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differentiation, Hema...	OMIM:263200
Schimke Immuno-Osseous Dysplasia	Proteinuria, Transient ischemic attack, Minimal change glomerulonephritis, Congestive heart failu...	ORPHA:1830
Periodic Fever, Menstrual Cycle-Dependent	Increased circulating cortisol level	OMIM:614674
Fabry Disease	Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta...	OMIM:301500
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Lactic acidosis, Aminoaciduria, Ketonuria	OMIM:614520
Riboflavin Transporter Deficiency	Hypertension	ORPHA:97229
Fibrous Dysplasia Of Bone	Hyperthyroidism, Precocious puberty in females, Hypercalcemia, Elevated circulating growth hormon...	ORPHA:249
Juvenile Polyposis Syndrome	Hematochezia, Hypokalemia, Hypoalbuminemia	OMIM:174900
Coach Syndrome 1	Unilateral renal agenesis, Portal hypertension, Multiple small medullary renal cysts, Stage 5 chr...	OMIM:216360
Gaisböck Syndrome	Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Hypovolemia, Elevated diastolic blo...	ORPHA:90041
Liver Disease, Severe Congenital	Abnormal left ventricular function, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentrat...	OMIM:619991
Nephroblastoma	Hematuria, Hypertension	ORPHA:654
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Elevated circulating aspartate aminotransferase concentration, Jaundice, E...	OMIM:256810
Methylcobalamin Deficiency Type Cble	Hemolytic-uremic syndrome, Hypomethioninemia, Hypertension, Hyperhomocystinemia	ORPHA:2169
Isolated Complex I Deficiency	Increased serum pyruvate, Diabetes mellitus, Lactic acidosis, Proximal tubulopathy, Hypertrophic ...	ORPHA:2609
Aicardi-Goutieres Syndrome 9	Renal insufficiency, Pericarditis, Proteinuria, Portal hypertension, Stage 5 chronic kidney disea...	OMIM:619487
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Cardiomyopathy, Episodic metabolic acidosis, Ethylmalonic aciduria	OMIM:201470
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Ectopic kidney, Abnormality of the ureter, Hypertensio...	ORPHA:3027
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Elevated lactate:pyruvate ratio, Hypospadias, Concentric hypertro...	OMIM:252010
Bardet-Biedl Syndrome	Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia, Hypertension	ORPHA:110
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Congestive heart failure, Hypertension, Hyperuricemia, Hypertrophic cardiom...	ORPHA:79083
Alstrom Syndrome	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Congestive he...	OMIM:203800
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Polycythemia Vera	Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,...	ORPHA:729
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Inc...	OMIM:603903
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Proteinuria, Glomerulonephritis, Elevated circulating creatin...	ORPHA:90068
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Porphyria, Acute Intermittent	Tachycardia, Dysuria, Urinary incontinence, Hypertension, Urinary retention, Elevated urinary del...	OMIM:176000
Pituitary Adenoma 1, Multiple Types	Hypertension, Cardiomyopathy	OMIM:102200
Acute Intermittent Porphyria	Hyponatremia, Dark urine, Renal insufficiency, Tachycardia, Urinary incontinence, Dysuria, Porphy...	ORPHA:79276
Eosinophilic Granulomatosis With Polyangiitis	Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Transient ischemic attack,...	ORPHA:183
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg...	OMIM:618278
Biotinidase Deficiency	Organic aciduria, Decreased circulating biotinidase concentration, Hyperammonemia, Metabolic keto...	OMIM:253260
Wars2-Related Combined Oxidative Phosphorylation Defect	Lactic acidosis, Cardiomyopathy, Increased serum lactate, Abnormal circulating enzyme concentrati...	ORPHA:572798
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated gamma-glu...	OMIM:619534
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Proteinuria, Abnormal cardiovascular system physiology, Cardiomyopathy, Hyp...	ORPHA:79086
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Renal insufficiency, Membranoproliferative glomerulonephritis, Prote...	ORPHA:91139
Nephronophthisis-Like Nephropathy 1	Hypertension, Renal corticomedullary cysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613159
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Vasculitis, Hypertension, Cerebral ischemia, Arteritis	ORPHA:494424
Familial Dysautonomia	Hyponatremia, Renal insufficiency, Tachycardia, Orthostatic hypotension, Hypertension	ORPHA:1764
Schimke Immunoosseous Dysplasia	Renal insufficiency, Proteinuria, Transient ischemic attack, Stage 5 chronic kidney disease, Foca...	OMIM:242900
Overlap Myositis	Elevated circulating creatine kinase concentration, Raynaud phenomenon, Hypertension, Pulmonary a...	ORPHA:206572
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Senior-Boichis Syndrome	Portal hypertension, Chronic kidney disease, Renal hypoplasia, Stage 5 chronic kidney disease, Hy...	ORPHA:84081
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Nephrocalcinosis, Cardiomyopathy, Aminoaciduria, Lactic acidosis	OMIM:616084
Gaucher Disease, Type I	Epistaxis, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Aortic valve sten...	OMIM:230800
Paroxysmal Hemicrania	Hypertension	ORPHA:157835
Renal Hypodysplasia/Aplasia 1	Hypertension, Proteinuria	OMIM:191830
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec...	OMIM:256700
Isolated Ectopia Lentis	Hypertension	ORPHA:1885
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:617729
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Hypertension, Renal hypoplasia, Absence of renal corticomedullary differentiation	OMIM:619758
Cutis Marmorata Telangiectatica Congenita	Hypertension, Telangiectasia	OMIM:219250
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Atrial septal defect, Persistence of hemoglobin F, Ventricular septal defect	OMIM:619769
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Myocardial infarction, P...	ORPHA:447
Neuroendocrine Neoplasm Of Appendix	Elevated hepatic transaminase, Tricuspid stenosis, Heart murmur, Adrenocorticotropic hormone exce...	ORPHA:100079
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R...	ORPHA:758
Acute Interstitial Pneumonia	Hypertension, Elevated circulating creatinine concentration, Elevated circulating C-reactive prot...	ORPHA:79126
Monosomy 18P	Hypertension	ORPHA:1598
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Pulmonary arterial hypertension	OMIM:613320
Pyruvate Dehydrogenase E1-Beta Deficiency	Lactic acidosis	ORPHA:255138
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Renal insufficiency, Proteinuria, Angina pector...	ORPHA:324
Renal Agenesis	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, Hypertension	ORPHA:411709
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin	ORPHA:423479
Proximal Spinal Muscular Atrophy	Metabolic acidosis, Bradycardia	ORPHA:70
Lead Poisoning	Decreased HDL cholesterol concentration, Chronic kidney disease, Increased LDL cholesterol concen...	ORPHA:330015
Acute Liver Failure	Shock, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Acidosis, Jaundice, Hepatitis,...	ORPHA:90062
Pediatric-Onset Graves Disease	Atrial fibrillation, Congestive heart failure, Hypertension, Palpitations, Sinus tachycardia	ORPHA:525731
Joubert Syndrome 14	Intracranial hemorrhage, Hypertension, Renal cyst	OMIM:614424
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Hypertension	OMIM:617763
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypertension, Dilated cardiomyopathy, Cerebral hemorrhage	OMIM:300845
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Seckel Syndrome 10	Hypertriglyceridemia, Elevated hemoglobin A1c, Congestive heart failure, Hypertension, Glycosuria	OMIM:617253
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Persis...	OMIM:260400
Stiff-Person Syndrome	Hypertension, Tachycardia	OMIM:184850
Diamond-Blackfan Anemia	Acute myeloid leukemia, Ventricular septal defect, Pure red cell aplasia, Erythroid hypoplasia, R...	ORPHA:124
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Lactic acidosis, Increased serum lactate	OMIM:617186
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Alport Syndrome 1, X-Linked	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hypertensio...	OMIM:301050
Arteriosclerosis, Severe Juvenile	Hypertension, Chronic kidney disease, Myocardial infarction	OMIM:208060
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Oliguria, Pulmonary ar...	ORPHA:220393
Xfe Progeroid Syndrome	Hypertension, Renal insufficiency, Hypoalbuminemia, Proteinuria	OMIM:610965
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Hypertension, Increased serum lactate, Shortened PR interval	OMIM:614947
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hematochezia, Renal tubular acidosis, Metabolic acidosis	OMIM:619575
Aortic Arch Interruption	Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms...	ORPHA:2299
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Renal insufficiency, Ureteral stenosis, Proteinuria, Recurrent intra...	ORPHA:900
Alport Syndrome	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, ...	ORPHA:63
Alagille Syndrome	Telangiectasia of the skin, Nephrotic syndrome, Abnormality of the ureter, Hypertension	ORPHA:52
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Biotinidase Deficiency	Organic aciduria, Decreased circulating biotinidase concentration, Hyperammonemia, Metabolic keto...	ORPHA:79241
Pseudohypoparathyroidism Type 1A	Calcinosis, Prolonged QT interval, Hypertension, Hyperphosphatemia, Hypocalcemia, Low urinary cyc...	ORPHA:79443
Postinfectious Vasculitis	Abnormal circulating protein concentration, Cerebral vasculitis, Membranoproliferative glomerulon...	ORPHA:48435
Livedoid Vasculopathy	Telangiectasia of the skin, Hyperhomocystinemia, Hypertension, Ischemic stroke, Abnormal circulat...	ORPHA:542643
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia	OMIM:618426
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Primary Progressive Freezing Gait	Hypertension, Urinary incontinence	ORPHA:75567
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Hypospadias, Increased serum lactate, Hyperammonemia, Lactic acidosis, Hypertension, M...	OMIM:220111
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Lactic acidosis, Elevated circulating thymidine concentration, Elevated circulating deoxyuridine ...	OMIM:603041
Autosomal Dominant Dopa-Responsive Dystonia	Hypertension, Transient hyperphenylalaninemia	ORPHA:98808
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral reg...	ORPHA:363618
Werner Syndrome	Hypertension, Telangiectasia of the skin, Congestive heart failure, Myocardial infarction	ORPHA:902
Spondyloenchondrodysplasia	Proteinuria, Raynaud phenomenon, Vasculitis, Chronic kidney disease, Hematuria, Hypertension	ORPHA:1855
Cockayne Syndrome Type 1	Hypertension, Renal insufficiency, Proteinuria, Increased blood urea nitrogen	ORPHA:90321
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:91500
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Low Phospholipid-Associated Cholelithiasis	Hypercholesterolemia, Hypertension	ORPHA:69663
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula...	ORPHA:99827
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Gastrointestinal hemorrhage, Renal insufficiency, Portal hypertension, Oliguria, St...	ORPHA:731
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Renal corticomedu...	OMIM:243910
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc...	ORPHA:3342
Wagro Syndrome	Hypertension, Proteinuria	OMIM:612469
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Hypertension, Atrioventricular block	ORPHA:371428
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Myocardial infarction, Myocarditis, Abnormal left ventricul...	ORPHA:892
Fragile X-Associated Tremor/Ataxia Syndrome	Pollakisuria, Urinary bladder sphincter dysfunction, Hypertension, Hypotension	ORPHA:93256
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Ventricular septal defect, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Per...	OMIM:301040
Poliomyelitis	Hypertension, Hypovolemic shock, Hypotension	ORPHA:2912
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Retinal hemorrhage, Nep...	OMIM:609049
Acute Transverse Myelitis	Orthostatic hypotension, Decreased circulating copper concentration, Urinary incontinence, Subara...	ORPHA:139417
Vici Syndrome	Elevated circulating creatine kinase concentration, Acidosis, Congestive heart failure, Dilated c...	OMIM:242840
Carney Triad	Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia	ORPHA:139411
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Hypercalcemia, Elevated urinary norepinephrine level, Nephr...	ORPHA:653
Carey-Fineman-Ziter Syndrome	Hydronephrosis, Glandular hypospadias, Hypertensive crisis	ORPHA:1358
Arterial Tortuosity Syndrome	Aortic regurgitation, Hypertension, Ischemic stroke, Aortic valve stenosis, Telangiectases of the...	OMIM:208050
Diamond-Blackfan Anemia 1	Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ...	OMIM:105650
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Hypovolemia, Abnormal l...	ORPHA:91387
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas...	OMIM:600376
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hypertension	ORPHA:449291
Homozygous Familial Hypercholesterolemia	Angina pectoris, Myocardial infarction, Sudden cardiac death, Hyperlipidemia, Heart murmur, Incre...	ORPHA:391665
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Elevated urinary catecholamine level, Palpitations, Hypertension associated with phe...	OMIM:115310
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia	OMIM:614653
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:99889
Hurler Syndrome	Cardiomyopathy, Mucopolysacchariduria, Hypertension, Angina pectoris	ORPHA:93473
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Hypertension	OMIM:151660
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hypertension	ORPHA:1555
Alkaptonuria	Hypertension, Aminoaciduria, Nephrolithiasis, Myocardial infarction	ORPHA:56
Familial Bicuspid Aortic Valve	Aortic regurgitation, Hypertension, Aortic valve stenosis, Heart murmur	ORPHA:402075
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Portal hypertension, Elevated circulating C-reactive protein concentration, Raynaud phenomenon, V...	OMIM:615688
Nestor-Guillermo Progeria Syndrome	Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, S...	OMIM:614008
Aicardi-Goutieres Syndrome 7	Hematemesis, Increased circulating ferritin concentration, Vasculitis, Hematochezia, Nephrotic sy...	OMIM:615846
Beare-Stevenson Cutis Gyrata Syndrome	Hypertension, Hypospadias	OMIM:123790
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hypertension	OMIM:616914
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Aorta Coarctation	Congestive heart failure, Hypertension, Pulmonary arterial hypertension	ORPHA:1457
Von Hippel-Lindau Syndrome	Hypertension, Multiple renal cysts	OMIM:193300
Scalp-Ear-Nipple Syndrome	Duplication of renal pelvis, Ureteral duplication, Hypertension, Pyelonephritis	ORPHA:2036
Classic Homocystinuria	Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ...	ORPHA:394
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Hypospadias, Unilateral renal agenesis, Renal hypoplasia, Ren...	OMIM:270400
Alexander Disease	Hypotension, Hypertension, Sudden cardiac death	ORPHA:58
Familial Osteodysplasia, Anderson Type	Hypertension, Hyperuricemia	ORPHA:2769
Hardikar Syndrome	Renal insufficiency, Hydroureter, Portal hypertension, Hematemesis, Pyelonephritis, Hypertension,...	OMIM:301068
Apert Syndrome	Hypertension	ORPHA:87
Myhre Syndrome	Abnormal penis morphology, Epispadias, Hypospadias, Hypertension	ORPHA:2588
Multisystemic Smooth Muscle Dysfunction Syndrome	Hypertension, Pulmonary arterial hypertension	OMIM:613834
Au-Kline Syndrome	Vesicoureteral reflux, Hypertension, Chronic kidney disease, Hydronephrosis	OMIM:616580
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Unilateral renal agenesis, Congestive heart failure, Renal hypoplasia, Pyelo...	OMIM:181270
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Stage 5 chronic kidney disease, Renal cyst, Hypertension, Nephronophthisis,...	OMIM:266920
Hallermann-Streiff Syndrome	Hypertension, Pulmonary arterial hypertension, Telangiectasia	OMIM:234100
Cockayne Syndrome	Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen...	ORPHA:191
Bardet-Biedl Syndrome 1	Hypertension, Micropenis	OMIM:209900
Hunter-Macdonald Syndrome	Aortic regurgitation, Hypertension, Mitral regurgitation, Hypospadias	OMIM:611962
Systemic Lupus Erythematosus	Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Hematuria, Hypertension	ORPHA:536
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Myocardial infarction, N...	ORPHA:904
Cranioectodermal Dysplasia 2	Hypertension, Renal insufficiency, Renal cyst, Hyperbilirubinemia	OMIM:613610
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypospadias, Unilateral renal agenesis, Hypertension, Vesicoureteral reflux, Micropenis	ORPHA:95699
Tuberous Sclerosis Complex	Renal insufficiency, Chronic kidney disease, Stage 5 chronic kidney disease, Renal cyst, Hyperten...	ORPHA:805
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hypertension, Hydronephrosis	ORPHA:2750
Marshall-Smith Syndrome	Pulmonary arterial hypertension, Hypertension, Premature ventricular contraction	OMIM:602535
Williams-Beuren Syndrome	Renal insufficiency, Hypercalcemia, Portal hypertension, Urethral stenosis, Renal hypoplasia, Hyp...	OMIM:194050
Prader-Willi Syndrome	Hypertension	ORPHA:739
Orofaciodigital Syndrome I	Hypertension, Proteinuria, Polycystic kidney dysplasia	OMIM:311200
Congenital Disorder Of Glycosylation, Type Iim	Ureteropelvic junction obstruction, Hypertension, Vesicovaginal fistula, Neonatal hyperbilirubinemia	OMIM:300896
Cockayne Syndrome B	Renal insufficiency, Proteinuria, Hypertension, Arrhythmia, Micropenis	OMIM:133540
Cockayne Syndrome A	Renal insufficiency, Proteinuria, Hypertension, Arrhythmia, Micropenis	OMIM:216400
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Elevated circulating growth hormone ...	ORPHA:1359
Xq21 Microdeletion Syndrome	Hypertension, Renal artery stenosis	ORPHA:1435
Generalized Arterial Calcification Of Infancy	Hyperphosphaturia, Transient ischemic attack, Left ventricular systolic dysfunction, Retinal hemo...	ORPHA:51608
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Hypertriglyceridemia, Polyuria, Hypertension, Pulmonary arterial hyperte...	OMIM:606721
Mucopolysaccharidosis Type 2, Severe Form	Heparan sulfate excretion in urine, Heart murmur, Dermatan sulfate excretion in urine, Cardiomyop...	ORPHA:217085
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Hypospadias, Renal hypoplasia, Multiple renal cysts, Hypocalcemia, P...	ORPHA:567
Mucopolysaccharidosis Type 2, Attenuated Form	Heparan sulfate excretion in urine, Heart murmur, Dermatan sulfate excretion in urine, Cardiomyop...	ORPHA:217093
Vascular Ehlers-Danlos Syndrome	Telangiectasia of the skin, Transient ischemic attack, Hypospadias, Cystocele, Renovascular hyper...	ORPHA:286
Hutchinson-Gilford Progeria Syndrome	Aortic regurgitation, Mitral stenosis, Angina pectoris, Myocardial infarction, Transient ischemic...	ORPHA:740
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Renal hypoplasia, Renal cyst, Hypertension, Polycystic kidney dysplasia, Hyperbilirubinemia, Micr...	OMIM:210710
Blau Syndrome	Hypertension, Pericarditis	OMIM:186580
Acromegaly	Dysuria, Wide penis, Long penis, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy	ORPHA:963
Atypical Werner Syndrome	Hypertriglyceridemia, Telangiectasia of the skin, Congestive heart failure, Hypertension, Glycosu...	ORPHA:79474
Yunis-Varon Syndrome	Hypospadias, Renovascular hypertension, Hypertension, Cardiomyopathy, Renal artery stenosis, Pulm...	ORPHA:3472
Neurofibromatosis, Type I	Hypertension, Renal artery stenosis	OMIM:162200
Blau Syndrome	Pericarditis, Stage 5 chronic kidney disease, Large vessel vasculitis, Hypertension, Pulmonary ar...	ORPHA:90340
Myhre Syndrome	Hypertension, Aortic valve stenosis	OMIM:139210
Mucopolysaccharidosis Type 2	Cardiomyopathy, Arrhythmia, Hypertension	ORPHA:580
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, High urinary gonadotropin level, Ectopic kidney, Myocardial infarction, Ho...	ORPHA:99413
Mosaic Monosomy X	Prolonged QT interval, High urinary gonadotropin level, Ectopic kidney, Myocardial infarction, Ho...	ORPHA:99228
Monosomy X	Prolonged QT interval, High urinary gonadotropin level, Ectopic kidney, Myocardial infarction, Ho...	ORPHA:99226
Turner Syndrome	Prolonged QT interval, High urinary gonadotropin level, Ectopic kidney, Myocardial infarction, Ho...	ORPHA:881
Somatomammotropinoma	Hypertension, Mitral regurgitation, Dysuria, Hypertrophic cardiomyopathy	ORPHA:314769
Adams-Oliver Syndrome 1	Hypertension, Aortic valve stenosis, Pulmonary arterial hypertension, Pulmonic stenosis	OMIM:100300
17Q11 Microdeletion Syndrome	Telangiectasia of the skin, Renovascular hypertension, Hypertension, Renal artery stenosis, Pulmo...	ORPHA:97685
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Hypospadias, Unilateral renal agenesis, Hypertension, Corneal neova...	OMIM:308205
Neurofibromatosis Type 1	Hypertension	ORPHA:636
Keutel Syndrome	Hypertension, Pulmonic stenosis	OMIM:245150
Alström Syndrome	Hypertriglyceridemia, Detrusor sphincter dyssynergia, Dysuria, Glomerulonephritis, Urinary incont...	ORPHA:64

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 Klhl3

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 Klhl3.

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Klhl30^{tm1a(KOMP)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Klhl30^{tm1a(KOMP)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Klhl30^{tm1a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Klhl30^{tm1a(KOMP)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Klhl30^{tm1a(KOMP)Wtsi}	PMC5827107
KLHL3 Knockout Mice Reveal the Physiological Role of KLHL3 and the Pathophysiology of Pseudohypoaldosteronism Type II Caused by Mutant KLHL3.	Molecular and cellular biology (March 2017)	Klhl30^{tm1a(KOMP)Wtsi}	PMC5359427

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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
Klhl3^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Klhl3^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Klhl3^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Klhl3^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	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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Gene: Klhl3 MGI:2445185

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Echo

X-ray

Embryo LacZ

X-ray

Adult LacZ

X-ray

Auditory Brain Stem Response

Human diseases caused by Klhl3 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data