Gene Summary

Name:
kelch-like 3
Synonyms:
7530408C15Rik,  EG627648

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating potassium level Klhl3tm1b(KOMP)Wtsi HOM Early adult 4.21×10-20
increased heart weight Klhl3tm1b(KOMP)Wtsi HOM   Early adult 5.73×10-05
decreased hemoglobin content Klhl3tm1b(KOMP)Wtsi HOM Early adult 6.57×10-08
increased circulating alkaline phosphatase level Klhl3tm1b(KOMP)Wtsi HOM Early adult 4.06×10-06

Download data as:  TSV  XLS

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Select physiological systems to view:
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 N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 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)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 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)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 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)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 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.

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Echo

M-Mode Images

32 Images

Adult LacZ

LacZ Images Wholemount

12 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Auditory Brain Stem Response

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

4 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.

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Pseudohypoaldosteronism, Type Iia
Hyperkalemia, Hypertension, Hyperchloremic acidosis OMIM:145260
Pseudohypoaldosteronism, Type Iie
Metabolic acidosis, Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia, Hypertension, Hyperchl... OMIM:614496
Pseudohypoaldosteronism, Type Iic
Metabolic acidosis, Decreased circulating renin level, Pseudohypoaldosteronism, Hyperchloremia, H... OMIM:614492
Pseudohypoaldosteronism, Type Iib
Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia, Hypertension, Hyperchloremic metabolic aci... OMIM:614491
Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia, Hypertension, Hyperchloremic metabolic aci... OMIM:614495
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Hypertension, Essential
Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure OMIM:145500
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hypotension, Hyperaldosteronism, Metabolic acidosis, Hyponatremia, Hyperkalemia, Increased circul... OMIM:620125
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hypotension, Hyperaldosteronism, Metabolic acidosis, Hyponatremia, Pseudohypoaldosteronism, Renal... OMIM:264350
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension, Hyperaldosteronism, Metabolic acidosis, Hyponatremia, Pseudohypoaldosteronism, Hyper... OMIM:177735
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Metabolic acidosis, Hyponatremia, Hyperkalemia, Increased circulating renin l... OMIM:620126
Hyperaldosteronism, Familial, Type Ii
Hypokalemia, Hypertension, Hyperaldosteronism OMIM:605635
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Mixed respira... OMIM:145600
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Adrenal hyperplasia, Metabolic acidosis, Decreased circulating renin level, H... OMIM:613677
Isovaleric Acidemia
Metabolic acidosis ORPHA:33
Familial Hyperaldosteronism Type Ii
Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Hypokalemia, Abnormal circulati... ORPHA:404
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Acidosis, Renal salt wasting, Increased circulating renin level OMIM:619406
Late-Onset Familial Hypoaldosteronism
Hypotension, Renal sodium wasting, Hyponatremia, Decreased circulating aldosterone level, Elevate... ORPHA:556037
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero... OMIM:610600
Familial Hypoaldosteronism
Hypotension, Adrenal insufficiency, Metabolic acidosis, Hyponatremia, Hypovolemia, Decreased circ... ORPHA:427
Liddle Syndrome 2
Hypokalemia, Metabolic alkalosis, Hypertension, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Metabolic alkalosis, Hypertension, Decreased circulating renin level OMIM:618126
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Increased circulating lactate concentration, Increased total bilirubin, Elevated... OMIM:618528
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Early-Onset Familial Hypoaldosteronism
Hypotension, Renal sodium wasting, Hyponatremia, Decreased circulating aldosterone level, Elevate... ORPHA:556030
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Increased circulating cortisol level, Abnormal T-wave, Palpitations, Increased urinary... ORPHA:231625
Diarrhea 1, Secretory Chloride, Congenital
Alkalosis, Hyperaldosteronism, Elevated serum bicarbonate concentration, Hypokalemia, Hyponatremi... OMIM:214700
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Lactic acidosis, Elevated circulating creatine kinase concentration OMIM:154275
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia, Hyperkalemia OMIM:141000
Pseudohypoaldosteronism Type 2
Hyperkalemia, Hypertension ORPHA:757
Hsd10 Disease, Neonatal Type
Hypertrophic cardiomyopathy, Abnormal circulating enzyme concentration or activity, Lactic acidos... ORPHA:391457
Familial Hyperaldosteronism Type Iii
Epistaxis, Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Metabolic alkalosis, Hyp... ORPHA:251274
Corticosterone Methyloxidase Type I Deficiency
Hypotension, Hyponatremia, Decreased circulating aldosterone level, Renal salt wasting, Hyperkale... OMIM:203400
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Increased circulating lactate dehydrogenase concentration, Elevated circulat... OMIM:268200
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Abnormal circulating aldosterone, Glucocortocoid-insensitive primary hyperaldo... ORPHA:171876
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Lactic acidosis, Elevated circulating creatine kinase concentration OMIM:154276
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Bartter Syndrome, Type 3
Hypotension, Hyperchloriduria, Nephrocalcinosis, Hypocalciuria, Hyperaldosteronism, Increased uri... OMIM:607364
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemic hypochloremic metabolic alkalosis, Hyperchloriduria, Hypernatriuria, Hyperaldosteroni... OMIM:613090
Hyperaldosteronism, Familial, Type I
Abnormality of the urinary system, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... OMIM:103900
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Palpitations, Adrenal hyperplasia, Increased urinary potassium, Decreased circulating ... ORPHA:231580
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Ectopic Aldosterone-Producing Tumor
Epistaxis, Decreased circulating renin level, Hypokalemia, Renal cortical adenoma, Metabolic alka... ORPHA:231632
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Liddle Syndrome 1
Hypokalemia, Hypokalemic alkalosis, Hypertension, Decreased circulating renin level OMIM:177200
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Hypomagnesemia, Reduced left ventricular ejection fraction, Hypocalcemia,... OMIM:620152
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Increased circulating lactate concentration, Elevated circulating aspartate aminotransferase conc... OMIM:615158
East Syndrome
Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagnesemia, Hyperaldoste... ORPHA:199343
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Abnormal circulating aldosterone, Increased circulating ACTH level, Congenita... OMIM:614736
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Familial Hyperaldosteronism Type I
Epistaxis, Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperaldosteronis... ORPHA:403
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypocalciuria, Renal potassium wasting, Enuresis, Hypomagnesemia, Hyperaldosteronism, Renal sodiu... OMIM:612780
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Second degree atrioventricular block, Hyperaldosteronism, Adrenal hyperplasia, Nephrol... ORPHA:369929
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Increased level of L-pyroglutamic acid in urine, Glyoxalase deficiency, Reduced glutathione synth... OMIM:231900
Genetic Recurrent Myoglobinuria
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Increased circulati... ORPHA:99845
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Elevated... OMIM:619386
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Hyperaldosteronism, Familial, Type Iv
Hyperaldosteronism, Elevated aldosterone:renin ratio, Hypertension OMIM:617027
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hyperamylasemia, Bicarbonate-wasting renal tubular acidosis, Metabolic acidosis, Hypokalemia, Hyp... OMIM:604278
Phenformin 4-Hydroxylation
Lactic acidosis OMIM:261590
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Hypoadrenocorticism, Familial
Hyponatremia, Adrenal insufficiency, Hyperkalemia, Adrenal hypoplasia OMIM:240200
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Acidosis, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal ins... OMIM:137950
Familial Pseudohyperkalemia
Hyperkalemia, Hypertension ORPHA:90044
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Decreased circulating renin level, Hypokalemia, Nephrolithi... OMIM:615474
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Lactic acidosis, Metabo... ORPHA:91130
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Reduced circulating aldolase concentration, Arrhythmia, Myoglobinuria, Hyper... ORPHA:57
Malignant Hyperthermia, Susceptibility To, 4
Acidosis OMIM:600467
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Hyperphosphatemia, Acute hepatic failure, Supraventricular tachycardia, High... ORPHA:423
Pyruvate Dehydrogenase Phosphatase Deficiency
Increased circulating lactate concentration, Lactic acidosis, Hyperprolinemia, Hyperalaninemia, L... ORPHA:79246
Combined Oxidative Phosphorylation Deficiency 9
Elevated gamma-glutamyltransferase level, Increased circulating lactate concentration, Ketoacidos... OMIM:614582
Blue Diaper Syndrome
Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Ele... ORPHA:94086
Mitochondrial Complex I Deficiency, Nuclear Type 24
Increased circulating lactate concentration OMIM:618245
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Metabolic acidosis, Elevated circulating alkaline phosphatase concentration, A... ORPHA:94093
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Lactic acidosis, Metabolic acidosis, Hyperprolinemia, Pulmonary arterial hyperten... OMIM:619003
Cardiomyopathy, Familial Hypertrophic, 30, Atrial
Atrial flutter, Reduced left ventricular ejection fraction, Increased circulating brain natriuret... OMIM:620734
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemic hypochloremic metabolic alkalosis, Hyperchloriduria, Hypernatriuria, Hyperaldosteroni... OMIM:602522
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Osteopetrosis, Autosomal Recessive 9
Hyperparathyroidism, Stage 3 chronic kidney disease, Elevated circulating creatinine concentratio... OMIM:620366
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Acute Adrenal Insufficiency
Hypotension, Androgen insufficiency, Increased circulating ACTH level, Primary adrenal insufficie... ORPHA:95409
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Bartter Syndrome, Type 1, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Renal salt wasting, Hypokalemic metabolic alk... OMIM:601678
Polycystic Kidney Disease 7
Hypertension, Multiple renal cysts, Stage 5 chronic kidney disease, Renal insufficiency OMIM:620056
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy, Lactic acidosis OMIM:614053
Galactosemia I
Increased level of galactitol in red blood cells, Aminoaciduria, Galactosuria, Decreased liver fu... OMIM:230400
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... OMIM:205950
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Increased circulating lactate concentration, Congestive heart failure, Elevated circulating aspar... OMIM:619048
Familial Glucocorticoid Deficiency
Precocious puberty, Abnormal circulating adrenocorticotropin concentration, Decreased circulating... ORPHA:361
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia, Decreased circulating aldosterone level, Metaboli... OMIM:218030
Hawkinsinuria
Metabolic acidosis, Hypothyroidism, 4-Hydroxyphenylpyruvic aciduria, Abnormal circulating tyrosin... ORPHA:2118
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
Liddle Syndrome
Hypokalemia, Arrhythmia, Cerebral ischemia, Hypertension ORPHA:526
Tricarboxylic Acid Cycle, Defect Of
Persistent lactic acidosis OMIM:275370
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased circulating lactate concentration, Elevated circulating hepatic transaminase concentrat... OMIM:615160
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Nephrocalcinosis, Dilated cardiomyopathy, Hypomagnesemia, Hype... ORPHA:73224
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... OMIM:161900
Dihydrolipoamide Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Ketoacidosis, Decreased liver function, ... OMIM:246900
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... OMIM:300971
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Hyperalaninemia, Metabolic acidosis ORPHA:2597
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Intellectual Developmental Disorder, Autosomal Recessive 1
Increased circulating lactate concentration OMIM:249500
Lipoyltransferase 1 Deficiency
Increased circulating lactate concentration, Elevated circulating hepatic transaminase concentrat... OMIM:616299
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Increased circulating lactate concentration, Increased serum pyruvate OMIM:619062
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Hypotension, Con... ORPHA:90791
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Hypercholesterolemia, Myocardial infarction OMIM:608320
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Incre... OMIM:615395
Combined Oxidative Phosphorylation Deficiency 30
Elevated gamma-glutamyltransferase level, Increased circulating lactate concentration, Decreased ... OMIM:616974
Bartter Syndrome Type 4
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Hypomagnesemia, Hyperaldosteronism... ORPHA:89938
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Metabolic acidosis, Abnormal urine sebacic acid concentration, Low plasma citrulline, Jaundice, H... OMIM:615751
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Isolated Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Metabolic acidosis, Elevated circulating creatine kinase concentration ORPHA:408
Ethylene Glycol Poisoning
Hypotension, Elevated serum anion gap, Congestive heart failure, Shock, Lactic acidosis, Renal in... ORPHA:31826
Gracile Syndrome
Aminoaciduria, Increased circulating iron concentration, Increased circulating ferritin concentra... OMIM:603358
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Abnormal circulating choles... ORPHA:289548
Succinic Acidemia
Lactic acidosis OMIM:600335
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Abnormal circulating choles... ORPHA:168558
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Xanthelasma, Elevated circulating alkaline phosphatase concentration, Fata... ORPHA:275761
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Mitochondrial Myopathy, Lethal, Infantile
Lactic acidosis OMIM:551000
Ethanolaminosis
Cardiomegaly OMIM:227150
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Proximal tubulopathy, Increased serum prostaglandin E2, Hypokalemia, Hypokalemic alkalosis, Abnor... OMIM:241150
Addison Disease
Adrenal calcification, Hypoparathyroidism, Renal salt wasting, Hyperkalemia, Thymoma, Androgen in... ORPHA:85138
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Renal salt wasting, Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:613743
3-Hydroxyisobutyric Aciduria
Episodic ketoacidosis, Lactic acidosis, Ketoacidosis OMIM:236795
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Hyperkalemic Periodic Paralysis
Congestive heart failure, Elevated circulating creatine kinase concentration, Hypokalemia, Hypona... ORPHA:682
Mitochondrial Trifunctional Protein Deficiency 2
Increased circulating lactate concentration, Hypotension, Dilated cardiomyopathy, Tricuspid regur... OMIM:620300
Combined Oxidative Phosphorylation Deficiency 8
Increased circulating lactate concentration, Congestive heart failure, Hypertrophic cardiomyopath... OMIM:614096
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Increased circulating lactate concentration, Elevated circulating creatine kinase concentration OMIM:616209
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypokalemia, Decreased circulating cortisol level, Decreased urinary potassium, Hype... OMIM:611489
Pyruvate Dehydrogenase E1-Beta Deficiency
Lactic acidosis, Hyperammonemia OMIM:614111
Bartter Syndrome, Type 2, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Increased serum prostagland... OMIM:241200
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d... OMIM:614723
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Nephrocalcinosis, Distal renal tubular acidosis, Metabolic acidosis, Hypokalemia, Hypercalciuria OMIM:602722
Combined Oxidative Phosphorylation Deficiency 34
Increased circulating lactate concentration, Hepatic failure, Elevated circulating thyroid-stimul... OMIM:617872
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Lactic acidosis, Metabolic acidosis, Dicarboxyl... OMIM:615026
Combined Oxidative Phosphorylation Deficiency 23
Increased circulating lactate concentration, Dilated cardiomyopathy, Congestive heart failure, Hy... OMIM:616198
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Renal salt wasting, Hyperkalemia, Abnormal circulating dehydroepiandrostero... ORPHA:90794
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Metabolic acidosis, Bradycardia, Myocardit... OMIM:617222
Gitelman Syndrome
Type II diabetes mellitus, Parathyroid adenoma, Urinary incontinence, Ventricular fibrillation, T... ORPHA:358
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hypertension, Mi... OMIM:613237
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Aminoaciduria, Nephrocalcinosis, Elevated circulating hepatic transaminase concentr... OMIM:616026
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Hematuria, Hypertension OMIM:607832
Mitochondrial Complex I Deficiency, Nuclear Type 22
Hypertrophic cardiomyopathy, Lactic acidosis, Elevated lactate:pyruvate ratio OMIM:618243
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis, Hepatomegaly OMIM:613977
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kidney disease, Ren... ORPHA:54370
Mitochondrial Complex I Deficiency, Nuclear Type 11
Increased circulating lactate concentration, Congestive heart failure, Hypertrophic cardiomyopath... OMIM:618234
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Cardiomyopathy, Increased level of methylsuccin... ORPHA:26792
Acetyl-Coa Acetyltransferase-2 Deficiency
Increased circulating lactate concentration, Increased serum pyruvate OMIM:614055
Fanconi-Bickel Syndrome
Hypouricemia, Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Elevated circulating ... OMIM:227810
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Colchicine Poisoning
Hypotension, Cardiogenic shock, Oliguria, Hypomagnesemia, Congestive heart failure, Lactic acidos... ORPHA:31824
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Graves disease, Second degree atrioventricular block, Urinary retention, Hy... ORPHA:79102
Lactic Acidosis, Chronic Adult Form
Chronic lactic acidosis, Hyperuricemia OMIM:150170
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Renal insufficiency, Abnormality of circulating cortisol level, Decreased circu... ORPHA:320
Birk-Landau-Perez Syndrome
Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Renal insufficiency, In... OMIM:617595
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertension, Hypertriglyceridemia, Sudden cardiac death... OMIM:610947
Cardiomyopathy, Dilated, 2C
Increased circulating lactate concentration, Reduced left ventricular ejection fraction, Pulmonar... OMIM:618189
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Elevated lactate:pyruvate ratio, Increased circulating lactate concentration, Lactic acidosis, Se... OMIM:616111
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Ventricular arrhyth... ORPHA:101016
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... ORPHA:2394
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Adrenal insufficiency, I... OMIM:201810
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Dihydropyrimidinase Deficiency
Reduced dihydropyrimidine dehydrogenase level, Reduced hepatic dihydropyrimidinase activity, Elev... OMIM:222748
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Lactic acidosis, Hyperuricemia, Hypercho... OMIM:306000
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... ORPHA:189427
Exercise-Induced Malignant Hyperthermia
Hepatic failure, Hypotension, Hyperphosphatemia, Abnormal pulse pressure, Decreased liver functio... ORPHA:466650
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Hyperphosphatemia, Hematuria, Glomerulonephritis, Tubulointerstitial neph... ORPHA:340
Combined Oxidative Phosphorylation Deficiency 28
Increased circulating lactate concentration, Increased serum pyruvate, Congestive heart failure, ... OMIM:616794
Pheochromocytoma/Paraganglioma Syndrome 6
Hypertension OMIM:618464
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... OMIM:611555
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria, Hypertension ORPHA:2820
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Hypophosphatemic rickets, Stage 5 chronic kidney disease, Proteinuria,... OMIM:618913
Glutathione Synthetase Deficiency
Chronic metabolic acidosis ORPHA:32
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Distal renal tubular acidosis, Metabolic acidosis, Hypokalemia, Isothenuria, Hy... OMIM:611590
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Abnormal circulating androgen level, Increased circulating ACTH level, Adrenal hyperplasia, Hypon... ORPHA:90790
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, H... OMIM:179800
Nail-Patella-Like Renal Disease
Proteinuria, Microscopic hematuria, Renal insufficiency, Hypertension ORPHA:2613
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Decreased thyroid-stimulating hormone level, Hypokalemia, Increased circulating free T4 c... OMIM:613239
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy, Elevated serum anion gap, Ketoacidosis, Lactic acidosis, Hyperammonemia, ... OMIM:618120
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Elevated circulating creatinine concentration, Low-molecular-weight pr... OMIM:615605
Preeclampsia/Eclampsia 1
Proteinuria, Hypertension OMIM:189800
Lactase Deficiency, Congenital
Metabolic acidosis OMIM:223000
Oxoglutarate Dehydrogenase Deficiency
Congenital lactic acidosis, Increased circulating lactate concentration, Metabolic acidosis OMIM:203740
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Increased circulating lactate concentration, Pancreatitis, Hyperammonemia, Metabolic acidosis OMIM:620137
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated gamma-glutamyltransferase level, Recurrent urinary tract infections, Elevated circulatin... OMIM:613095
Acetyl-Coa Carboxylase-Alpha Deficiency
Reduced tissue acetyl-CoA carboxylase activity, Increased circulating lactate concentration OMIM:613933
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Lactic acidosis, Decreased circulating ferritin concentration ORPHA:330054
Mitochondrial Myopathy With Lactic Acidosis
Increased circulating lactate concentration, Increased serum pyruvate, Elevated serum anion gap, ... OMIM:251950
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Reduced renal corticomedullary differentiation, Polycystic kidney... OMIM:617610
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca... OMIM:601198
Glomerulopathy With Fibronectin Deposits 2
Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Hypertension, Nephrotic syndrom... OMIM:601894
Mitochondrial Complex I Deficiency, Nuclear Type 34
Lactic acidosis, Metabolic acidosis OMIM:618776
Juvenile Nephropathic Cystinosis
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Metabolic acidosis, Hypophosphatem... ORPHA:411634
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
2P21 Microdeletion Syndrome
Hypogonadism, Lactic acidosis, Hypocalcemia, Nephrolithiasis, Cystinuria ORPHA:163693
Sulfite Oxidase Deficiency, Isolated
Sulfite oxidase deficiency, Sulfocysteinuria, Decreased urinary sulfate, Metabolic acidosis, Elev... OMIM:272300
Methylmalonyl-Coa Epimerase Deficiency
Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine concentration, Metab... OMIM:251120
Andersen-Tawil Syndrome
Renal hypoplasia, Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular... ORPHA:37553
Acute Peripheral Arterial Occlusion
Acidosis, Abnormal capillary physiology, Supraventricular tachycardia, Abnormality of venous phys... ORPHA:90064
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert... OMIM:616501
Combined Oxidative Phosphorylation Deficiency 38
Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Lactic acidosis, Hypera... OMIM:618378
Mitochondrial Pyruvate Carrier Deficiency
Increased circulating lactate concentration, Increased serum pyruvate, Organic aciduria, Lactic a... OMIM:614741
Mitochondrial Complex I Deficiency, Nuclear Type 13
Acidosis, Decreased circulating carnitine concentration, Hypertrophic cardiomyopathy, Metabolic a... OMIM:618235
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Increased circulating lactate concentration, Elevated circulating hepatic transaminase concentrat... OMIM:615453
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Reduced rena... OMIM:603278
Iga Nephropathy, Susceptibility To, 2
Nephritis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Hypertension OMIM:613944
Methanol Poisoning
Type I diabetes mellitus, Permanent atrial fibrillation, Type II diabetes mellitus, Hyperlipidemi... ORPHA:31825
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Metabolic acidosis, Lactic acidosis, Elevated circulating tiglylglyc... OMIM:300438
Fanconi-Bickel Syndrome
Nephropathy, Generalized aminoaciduria, Hepatic failure, Nephrocalcinosis, Glycosuria, Elevated c... ORPHA:2088
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Increased circulating lactate concentration, Metabolic acidosis OMIM:610090
Mirage Syndrome
Microphallus, Recurrent urinary tract infections, Adrenal insufficiency, Hyponatremia, Adrenal hy... OMIM:617053
Fibronectin Glomerulopathy
Hypoalbuminemia, Renal insufficiency, Proteinuria, Hypertension, Cerebral hemorrhage, Nephrotic s... ORPHA:84090
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... OMIM:613673
D-Glyceric Aciduria
Hyperglycinuria, Increased circulating free fatty acid level, Abnormal circulating enzyme concent... ORPHA:941
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Decreased HDL cholesterol concentration, Increased LDL cholesterol conc... OMIM:615703
Malonyl-Coa Decarboxylase Deficiency
Dilated cardiomyopathy, Elevated urine suberic acid level, Methylmalonic aciduria, Reduced malony... OMIM:248360
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Lactic acidosis, Metabolic acidosis OMIM:610773
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased circulating lactate concentration, Chronic lactic acidosis, Lactic acidosis, Metabolic ... OMIM:312170
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased circulating lactate concentration, Cardiomyopathy, Lactic acidosis, Metabolic acidosis,... OMIM:619046
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Dilated cardiomyopathy, Lactic acidosis, Pancreatitis, Elevated circulating alan... OMIM:618805
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Hematuria, Stage 5 chronic kidney disease, Hypertension OMIM:616818
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Tricuspid regurgitation... OMIM:619051
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Lacunar stroke, Transient ischemic attack, Hypertension OMIM:616779
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Giant cell hepatitis, Aminoaciduria, Elevated circulating hepatic transaminase conce... OMIM:613404
Mitochondrial Myopathy, Infantile, Transient
Increased circulating lactate concentration, Decreased circulating carnitine concentration, Lacti... OMIM:500009
Combined Malonic And Methylmalonic Acidemia
Acidosis, Elevated circulating hepatic transaminase concentration, Ketoacidosis, Methylmalonic ac... ORPHA:289504
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency, Fatal liver failure in infancy, Cardiomyopathy, Severe lactic acidosis ORPHA:254857
Hydroxykynureninuria
Hypotension, Abnormal circulating tryptophan concentration, Renal tubular acidosis, Metabolic aci... ORPHA:79155
Combined Oxidative Phosphorylation Deficiency 10
Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Lactic acidosis, Hypera... OMIM:614702
Mitochondrial Complex I Deficiency, Nuclear Type 15
Hypertrophic cardiomyopathy, Increased circulating lactate concentration, Metabolic acidosis OMIM:618237
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Intermitten... ORPHA:369
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased circulating lactate concentration, Second degree atrioventricular bloc... OMIM:617021
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Increased circulating lactate concentration, Decrea... OMIM:246450
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Elevated circulating hepatic transaminase concentration, Decreased circulating c... OMIM:201450
Mitochondrial Complex I Deficiency, Nuclear Type 6
Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Lactic acidosis, Metabo... OMIM:618228
Pyruvate Carboxylase Deficiency
Increased circulating lactate concentration, Lactic acidosis, Hyperalaninemia, Proximal renal tub... OMIM:266150
Combined Oxidative Phosphorylation Deficiency 1
Increased circulating lactate concentration, Fulminant hepatic failure, Metabolic acidosis, Eleva... OMIM:609060
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Lactic acidosis, Congestive heart failure OMIM:615440
Isovaleric Acidemia
Hyperglycinuria, Ketoacidosis, Elevated urinary isovalerylglycine level, Metabolic acidosis, Cere... OMIM:243500
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Increased serum pyruvate, Hyperalaninemia, Lactic acidosis, Metabolic acidosis OMIM:245349
3-Methylglutaconic Aciduria Type 4
3-Methylglutaconic aciduria, Cardiomyopathy, Lactic acidosis, Decreased liver function ORPHA:67048
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Palpitations, Hypokalemia, Hyperthyroidism, Tachycardia OMIM:188580
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy, Lactic acidosis, Organic aciduria OMIM:617184
Primary Fanconi Renotubular Syndrome
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Decreased circulating carnitine co... ORPHA:3337
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Renal potassium ... ORPHA:564178
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia, Hypertension ORPHA:2111
Renal Tubular Acidosis Iii
Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension, Decreased circulating renin level OMIM:605115
Trimethylaminuria
Tachycardia, Trimethylaminuria, Hypertension OMIM:602079
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia, Proteinuria, Increased circulating lactate concentration, Nephrotic syndrome OMIM:614652
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine, Reduced glutathione synthetase level, Chronic me... OMIM:266130
Beta-Thalassemia
Microcytic anemia, Hypertrophic cardiomyopathy, Abnormal hemoglobin, Splenomegaly, Hepatomegaly, ... ORPHA:848
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating acylcarnitine concentration, Increased circulating lactate concentration, El... OMIM:616878
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Increased circulating lactate concentration, Decreased liver function, Congestive heart failure, ... ORPHA:70472
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis, Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regur... OMIM:614473
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxyisobutyric acid level, Increased circulating lactate concentration, Ele... OMIM:614105
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Increased circulating lactate concentration, De... ORPHA:99901
Cholera
Acidosis, Hypotension, Hypovolemic shock, Acute kidney injury, Lactic acidosis, Hypocalcemia, Hyp... ORPHA:173
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Increased circulating lactate concentration, Lactic acidosis, Hyperammonemia, Elevated circulatin... OMIM:618416
Glycogen Storage Disease Xi
Increased circulating lactate concentration, Renal insufficiency, Elevated circulating creatine k... OMIM:612933
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Increased circulating lactate concentration, Lactic acidosis, Hypera... OMIM:617228
Liver Failure, Infantile, Transient
Hypoalbuminemia, Increased circulating lactate concentration, Elevated circulating hepatic transa... OMIM:613070
Cardiogenic Shock
Increased circulating lactate concentration, Hypotension, Right ventricular failure, Oliguria, Ab... ORPHA:97292
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Lactic acidosis, Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal l... OMIM:540000
Gracile Syndrome
Increased circulating ferritin concentration, Lactic acidosis, Renal Fanconi syndrome, Elevated h... ORPHA:53693
Mitochondrial Complex I Deficiency, Nuclear Type 4
Increased circulating lactate concentration, Increased serum pyruvate, Metabolic acidosis OMIM:618225
Mitochondrial Complex I Deficiency, Nuclear Type 14
Hypertrophic cardiomyopathy, Increased circulating lactate concentration, Lactic acidosis OMIM:618236
2,4-Dienoyl-Coa Reductase Deficiency
Increased circulating lactate concentration, Hyperlysinuria, Elevated circulating 2-trans,4-cis-d... OMIM:616034
Combined Oxidative Phosphorylation Deficiency 5
Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Lactic acidosis, Hypera... OMIM:611719
Propionic Acidemia
Hyperglycinuria, Increased level of hippuric acid in urine, Cardiomyopathy, Lactic acidosis, Hype... OMIM:606054
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Hemochromatosis, Type 5
Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... OMIM:615517
Pyridoxal Phosphate-Responsive Seizures
Increased circulating lactate concentration, Abnormal circulating arginine concentration, Abnorma... ORPHA:79096
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Elevated circulating acylcarnitine concentration, Glutaric aciduria, D... ORPHA:26791
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Lactic acidosis ORPHA:1369
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficiency, Proteinu... ORPHA:567544
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Elevated gamma-glutamyltransferase level, Jaundice, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:608885
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
3-Methylglutaconic Aciduria, Type I
Urinary incontinence, Reduced tissue 3-methylglutaconyl-CoA hydratase activity, 3-Methylglutaconi... OMIM:250950
Lessel-Kubisch Syndrome
Hypertension, Renal hypoplasia, Renal insufficiency OMIM:618681
Infantile Nephropathic Cystinosis
Aminoaciduria, Acidosis, Glycosuria, Low-molecular-weight proteinuria, Abnormality of thyroid phy... ORPHA:411629
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r... ORPHA:93598
Cystinosis
Nephropathy, Aminoaciduria, Type I diabetes mellitus, Portal hypertension, Renal insufficiency, R... ORPHA:213
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Increased circulating lactate concentration, Increased serum pyruvate OMIM:545000
Mitochondrial Complex I Deficiency, Nuclear Type 26
Increased circulating lactate concentration, Lacticaciduria, Metabolic acidosis, Elevated lactate... OMIM:618247
Multiple Mitochondrial Dysfunctions Syndrome 3
Lactic acidosis, Hyperglycinemia, Metabolic acidosis, Beta-aminoisobutyric aciduria, Elevated lac... OMIM:615330
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium... OMIM:618314
Combined Oxidative Phosphorylation Deficiency 4
Increased circulating lactate concentration, Lactic acidosis, Hyperammonemia, Metabolic acidosis OMIM:610678
Maple Syrup Urine Disease, Type Ia
Elevated circulating branched chain amino acid concentration, Increased level of hippuric acid in... OMIM:248600
Combined Oxidative Phosphorylation Deficiency 42
Cardiomyopathy, Decreased liver function, Lactic acidosis, Elevated circulating creatine kinase c... OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Hypertrophic cardiomyopathy, Lactic acidosis, Elevated circulating crea... OMIM:618835
Hawkinsinuria
Metabolic acidosis, Hawkinsinuria, 4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia, 4-hydroxyph... OMIM:140350
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Increased circulating lactate concentration, Abnormal circulating pyruvate family amino acid conc... ORPHA:255182
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated circulating tetradecanoylcarnitine concentration, Increased urine alpha-ketoglutarate co... OMIM:619355
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Methylmalonic aciduria, Elevated circulating aspartate aminotransferase concentration, Lactic aci... OMIM:245400
Iga Nephropathy, Susceptibility To, 1
Nephritis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Hypertension OMIM:161950
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Hsd10 Disease, Infantile Type
Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Abnormal circulating en... ORPHA:391428
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Eleva... ORPHA:71212
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Increased circulating lactate concentration, Elevated circulating creatine kinase concentration OMIM:617069
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Renal insufficiency, Hyperuricemia, Arrhythmia, Hypertension ORPHA:3222
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Increased circulating lactate concentration, Hypothyroidism, Mildly elevated creatine kinase ORPHA:663
Infection-Related Hemolytic Uremic Syndrome
Hypertensive crisis, Acute kidney injury, Oliguria, Anuria, Hypocalcemia, Hyponatremia, Hypertens... ORPHA:544482
Sengers Syndrome
Increased circulating lactate concentration, Exercise-induced lactic acidemia, Hypertrophic cardi... OMIM:212350
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Increased circulating lactate concentration, Increased serum pyruvate, Hyperalaninemia, Lactic ac... OMIM:617668
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hyperglycinuria, Decreased circulating carnitine concentration, Ketoacidosis, Organic aciduria, K... OMIM:210210
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Lactic acidosis, Hyperalaninemia OMIM:615917
Hypomagnesemia 2, Renal
Hypocalciuria, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, Hypokalemia OMIM:154020
Mitochondrial Complex I Deficiency, Nuclear Type 3
Metabolic acidosis OMIM:618224
Gitelman Syndrome
Hypotension, Hypocalciuria, Enuresis, Renal magnesium wasting, Hypomagnesemia, Palpitations, Hypo... OMIM:263800
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased circul... ORPHA:90793
Hypotonia-Cystinuria Syndrome
Increased circulating lactate concentration, Cystine crystalluria, Decreased response to growth h... OMIM:606407
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Increased circulating lactate concentration, Lactic acidosis, Hyperglycinemia, Pulmonary arterial... OMIM:619059
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Proximal tu... OMIM:229600
Coenzyme Q10 Deficiency, Primary, 5
Increased circulating lactate concentration, Lactic acidosis, Hyperalaninemia, Bradycardia OMIM:614654
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Increased circulating ACTH level, Increased circulating and... OMIM:615962
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Lactic acidosis, Elevated circulating creatine kinase conce... OMIM:618838
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Precocious puberty, Elevated circulating 17-hydroxyprogesterone concentrati... ORPHA:90795
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hepatic failure, Red-brown urine, Cardiomyopath... ORPHA:228308
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated gamma-glutamyltransferase level, Increased urinary glycerol, Increased LDL cholesterol c... ORPHA:247598
Holocarboxylase Synthetase Deficiency
Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, Lactic acidosis, Hyperammonemia... OMIM:253270
Glycogen Storage Disease Ixc
Increased circulating lactate concentration, Elevated circulating hepatic transaminase concentrat... OMIM:613027
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria, Decreased liver function, Metabolic acidosis OMIM:602199
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, Hypertension ORPHA:1345
Mitochondrial Dna Depletion Syndrome 17
Acidosis, Hepatic failure, Low plasma citrulline, Hyperammonemia OMIM:618567
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Increased u... ORPHA:348
Oculocerebrorenal Syndrome Of Lowe
Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Aminoaciduria, Increased circulatin... ORPHA:534
Perrault Syndrome 5
Increased circulating lactate concentration, Increased serum pyruvate, Hypergonadotropic hypogona... OMIM:616138
Combined Oxidative Phosphorylation Deficiency 36
Aciduria, Increased circulating lactate concentration, Elevated circulating aspartate aminotransf... OMIM:617950
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Increased circulating lactate... OMIM:605711
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Increased circulating lactate concentration, Renal insufficiency, Elevated circulating creatine k... ORPHA:2364
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:26793
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Aminoaciduria, Lactic acidosis, Elevated circulating creatine kinase concentration OMIM:609560
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Elevated gamma-glutamyltransferase level, Giant cell hepatitis, Elevated circulating... OMIM:208085
Primary Hyperoxaluria
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated circulating hepatic transaminase con... ORPHA:416
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Increased circulating lactate concentration, Hypomagnesemia, Hyperechogen... OMIM:613845
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Hypertension, Increased C-peptide level, Hypertriglyceridemia OMIM:615238
Combined Oxidative Phosphorylation Deficiency 48
Increased circulating lactate concentration, Lactic acidosis OMIM:619012
Mitochondrial Complex I Deficiency, Nuclear Type 29
Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Lactic acidosis, Palpit... OMIM:618250
Diarrhea 4, Malabsorptive, Congenital
Hyperchloremic metabolic acidosis OMIM:610370
Pyruvate Dehydrogenase Phosphatase Deficiency
Lactic acidosis OMIM:608782
Scorpion Envenomation
Premature ventricular contraction, Arrhythmia, Tachycardia, Acute kidney injury, Increased circul... ORPHA:466677
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Lactic acidosis, Cardiomyopathy OMIM:615119
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... OMIM:609015
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Lactic acidosis, Bradycardia, Micropenis, Hy... OMIM:618815
Combined Oxidative Phosphorylation Deficiency 19
Elevated gamma-glutamyltransferase level, Elevated circulating aspartate aminotransferase concent... OMIM:615595
Hereditary Fructose Intolerance
Chronic kidney disease, Hypermagnesemia, Reduced circulating aldolase concentration, Renal insuff... ORPHA:469
Coenzyme Q10 Deficiency, Primary, 4
Increased circulating lactate concentration, Lactic acidosis, Elevated lactate:pyruvate ratio OMIM:612016
Mitochondrial Complex I Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Lactic acidosis OMIM:618229
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Reduced 3-methylcrotonyl CoA carboxyla... OMIM:210200
Pheochromocytoma--Islet Cell Tumor Syndrome
Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,... OMIM:171420
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria, Acidosis OMIM:204730
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Increased circulating lactate concentration, Lactic acidosis, Elevat... OMIM:613561
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased circulating lactate concentration, Hyperglycinemia, Lacticaciduria OMIM:619063
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Increased circulating lactate concentration, Dilated cardiomyopathy, Congestive heart failure, Hy... ORPHA:1349
Combined Oxidative Phosphorylation Deficiency 47
Increased circulating lactate concentration, Elevated circulating hepatic transaminase concentrat... OMIM:618958
Methylmalonic Aciduria, Cblb Type
Dilated cardiomyopathy, Ketonuria, Decreased methylmalonyl-CoA mutase activity, Methylmalonic aci... OMIM:251110
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Increased circulating lactate concentration, Ketonuria, Hypertrophic cardiomyop... OMIM:619053
Aapoaiv Amyloidosis
Chronic kidney disease, Atrial flutter, Hypertrophic cardiomyopathy, Elevated circulating creatin... ORPHA:439232
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, Increased circulating an... OMIM:202010
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Increased circulating lactate concentration, Lactic acidosis, Hyperammonemia, 3-Methylglutaconic ... OMIM:614739
Methylmalonic Aciduria, Cbla Type
Elevated serum anion gap, Decreased methylmalonyl-CoA mutase activity, Ketonuria, Methylmalonic a... OMIM:251100
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... ORPHA:18
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Ketonuria, Lactic acidosis, Low plasma citrulline, Elevated circulating alanine ... OMIM:261680
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Spider hemangioma, Xanthelasma, Lactic acidosis, Hyperlipidem... OMIM:232240
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Increased circulating lactate concentration, Metabolic acidosis OMIM:617290
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Proximal tubulopathy, Lactic acidosis, Severe lactic acidosis OMIM:612075
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypokalemic alkalosis, Hypertension OMIM:202110
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Elevated circulating creatinine concentration, Proteinuria, Hematuria, Hy... OMIM:123550
Beta-Ketothiolase Deficiency
Acidosis, Increased circulating lactate concentration, Hypotension, Ketoacidosis, Ketonuria, Hype... ORPHA:134
Tyrosinemia, Type I
Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Gas... OMIM:276700
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Metabolic acidosis, Hypomethioninemia, Hematuria, Tachycardia, Methylmalonic acidemi... OMIM:277400
Senior-Loken Syndrome
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis, Hypertension ORPHA:3156
Adult Acute Respiratory Distress Syndrome
Vasculitis, Hypotension, Shock, Metabolic acidosis, Diabetic ketoacidosis ORPHA:70578
Hyperoxaluria, Primary, Type I
Atrioventricular block, Nephrocalcinosis, Arterial occlusion, Hyperoxaluria, Renal insufficiency,... OMIM:259900
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hematochezia, Elevated circulating thyroid-stimulating hormone concentration, Hy... OMIM:618183
Beta-Ureidopropionase Deficiency
Increased circulating lactate concentration, Reduced hepatic beta-ureidopropionase activity, Elev... OMIM:613161
Isolated Atp Synthase Deficiency
Renal hypoplasia, Dilated cardiomyopathy, Hypogonadism, Hypertrophic cardiomyopathy, Lactic acido... ORPHA:254913
Combined Oxidative Phosphorylation Deficiency 2
Increased circulating lactate concentration, Lactic acidosis, Elevated circulating hepatic transa... OMIM:610498
Mitochondrial Complex I Deficiency, Nuclear Type 25
Lactic acidosis OMIM:618246
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Hypophosph... ORPHA:263455
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Chronic kidney disease, Increased circulating lactate concentration, Cardiomyopathy, Renal tubula... ORPHA:324525
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension, Hypertriglyceridemia ORPHA:71529
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Cardiomyopathy, Stage 5 chronic kidney disease, Hyperglycinemia, Hyperamm... OMIM:251000
Congenital Isolated Acth Deficiency
Hypotension, Adrenocorticotropin deficient adrenal insufficiency, Hepatitis, Hyponatremia, Decrea...