Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
G protein-coupled receptor 4
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Gpr4 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Gpr4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d... OMIM:614723
Medullary Sponge Kidney
Hematuria, Distal renal tubular acidosis, Hypercalciuria, Nephrolithiasis ORPHA:1309
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... OMIM:615605
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Acidosis, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal ins... OMIM:137950
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Epistaxis, Gastrointestinal hemorrhage, Post-partum hemorrhage, Poor wound healing, Prolonged ble... ORPHA:465
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Bicarbonate-wasting renal tubular acidosis, Metabolic acidosis, Hyperchloremic acidosis, Proximal... OMIM:604278
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration, Hypercalciuria, Hyperchloremic acidosis, Proximal ... OMIM:179830
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss
Renal tubular acidosis, Nephrolithiasis OMIM:267300
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Nephrocalcinosis, Hypercalciuria, Renal tubular acidosis OMIM:239199
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Nephrocalcinosis, Distal renal tubular acidosis, Metabolic acidosis OMIM:602722
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Hypercalciuria, Hyperphosphaturia, Nephrolithiasis OMIM:612286
Bartter Syndrome, Type 3
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Increased urinary potassium, Impaired renal tu... OMIM:607364
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Hypomagnesemia 2, Renal
Hypocalciuria, Renal insufficiency, Renal magnesium wasting OMIM:154020
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Glanzmann Thrombasthenia
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... ORPHA:849
Hypouricemia, Renal, 1
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulating creatinine ... OMIM:220150
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis OMIM:612287
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis, Hypercalciuria, Polyuria OMIM:616963
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Increased circulating lactate concentration, Glycosuria, Respiratory distress, Lac... OMIM:220110
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Chronic kidney disease, Increased circulating lactate concentration, Renal tubular acidosis, 3-Me... ORPHA:324525
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Factor Xiii, B Subunit, Deficiency Of
Abnormal bleeding, Bruising susceptibility, Ecchymosis, Abnormal umbilical stump bleeding, Prolon... OMIM:613235
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Lactic acidosis, Hyperphosphaturia, Renal tubular dysfunction, Protein... ORPHA:436271
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Apnea, 3-Methylglutaconic aciduria OMIM:615228
Idiopathic Hypercalciuria
Calcium oxalate nephrolithiasis, Renal calcium wasting, Hypercalciuria ORPHA:2197
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Hypercalciuria, Absorptive, 2
Calcium oxalate nephrolithiasis, Hypercalciuria OMIM:143870
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Metabolic acidosis, Myoglobinuria, Tachypnea, Hypercapnia ORPHA:423
Pyruvate Carboxylase Deficiency
Increased circulating lactate concentration, Lactic acidosis, Proximal renal tubular acidosis OMIM:266150
Evans Syndrome
Epistaxis, Bruising susceptibility, Pallor, Petechiae, Syncope, Dyspnea, Jaundice ORPHA:1959
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypocalciuria, Enuresis, Renal sodium wasting, Polyuria, Renal salt wasting, Hypokalemic metaboli... OMIM:612780
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Petechiae, Ecchymosis, Hem... ORPHA:853
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hyperphosphaturia, Metabolic acidosis, Proteinuria OMIM:616026
Bleeding Disorder, Platelet-Type, 8
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Persistent bleeding after trau... OMIM:609821
Familial Isolated Hyperparathyroidism
Nephrocalcinosis, Hypercalciuria, Renal insufficiency, Hyperphosphaturia ORPHA:99879
Dibasic Amino Aciduria I
Ornithinuria, Hyperlysinuria, Dibasicaminoaciduria, Argininuria OMIM:222690
3-Hydroxyisobutyric Aciduria
Aminoaciduria, Episodic ketoacidosis, Lactic acidosis, Ketoacidosis OMIM:236795
Cutaneous Collagenous Vasculopathy
Erythema, Bruising susceptibility, Vascular skin abnormality, Petechiae, Diffuse telangiectasia, ... ORPHA:280779
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Warfarin-induced skin necrosis, Pulmonary embolism OMIM:612336
Fanconi-Bickel Syndrome
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Hyp... ORPHA:2088
Hsd10 Disease, Neonatal Type
Abnormal concentration of acylcarnitine in the urine, Lactic acidosis, Metabolic acidosis ORPHA:391457
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... OMIM:300555
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Alaninuria, Increased circulating lactate concentration, Metabolic acidosis OMIM:615158
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalciuria, Hypocalciuria, Nephrolithiasis OMIM:145980
Congenital Factor Xiii Deficiency
Gingival bleeding, Epistaxis, Delayed onset bleeding, Prolonged bleeding following circumcision, ... ORPHA:331
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... ORPHA:18
Hypocalciuric Hypercalcemia, Familial, Type Ii
Parathormone-independent increased renal tubular calcium reabsorption, Hypocalciuria, Nephrolithi... OMIM:145981
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Metabolic acido... OMIM:613404
Hemophilia A
Gingival bleeding, Epistaxis, Bruising susceptibility, Petechiae, Muscle hemorrhage, Persistent b... OMIM:306700
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hyperte... OMIM:161950
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria, Acidosis OMIM:204730
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Hyperphosphaturia, Tachypnea, Hypercalciuria, Polyuria, Dyspnea OMIM:239200
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Acidosis, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Hyperphosph... OMIM:227810
Cryoglobulinemic Vasculitis
Vasculitis, Gastrointestinal hemorrhage, Skin ulcer, Abnormality of the liver, Cutis marmorata, R... ORPHA:91138
Alagille Syndrome 2
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria OMIM:610205
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Distal renal tubular acidosis, Metabolic acidosis, Isothenuria, Hyperchloremic ... OMIM:611590
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Increased circulating lactate concentration, Apnea, Metabolic acidosis, Increased urine succinate... OMIM:619048
Fructose-1,6-Bisphosphatase Deficiency
Increased urinary glycerol, Apnea, Metabolic acidosis, Dyspnea, Hyperventilation OMIM:229700
Pyruvate Dehydrogenase Phosphatase Deficiency
Increased circulating lactate concentration, Lactic acidosis, Lacticaciduria ORPHA:79246
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Increased level of L-pyroglutamic acid in urine, Metabolic acidosis OMIM:231900
Enamel-Renal Syndrome
Nephropathy, Nephrocalcinosis, Hypocalciuria, Hypophosphaturia, Renal insufficiency, Impaired ren... ORPHA:1031
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, I... OMIM:179800
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... OMIM:613388
Hypophosphatemic Rickets, Autosomal Recessive, 2
Medullary nephrocalcinosis, Hyperphosphaturia OMIM:613312
Saccharopinuria
Saccharopinuria, Histidinuria, Hyperlysinuria, Elevated urinary saccharopine level, Citrullinuria OMIM:268700
Hyperprolinemia, Type Ii
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Elevated urinary pyrroline hydroxycarboxylic acid... OMIM:239510
Factor Xiii, A Subunit, Deficiency Of
Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ... OMIM:613225
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Lactic acidosis, 3-Methylglutaconic aciduria OMIM:614053
Complement Component 4A Deficiency
Vasculitis, Cutaneous photosensitivity, Purpura, Glomerulonephritis OMIM:614380
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level, Increased circulating lactate concentra... OMIM:616277
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... OMIM:220100
Infantile Nephropathic Cystinosis
Aminoaciduria, Acidosis, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal t... ORPHA:411629
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Low-molec... ORPHA:3337
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apneic episodes in infancy, Increased circulating lactate concentration, Apnea, Hypercapnia OMIM:618222
Bernard-Soulier Syndrome
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Spont... ORPHA:274
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria OMIM:242600
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria ORPHA:42062
Leukodystrophy, Hypomyelinating, 4
Increased circulating lactate concentration, Apnea, Ethylmalonic aciduria OMIM:612233
Immune Dysregulation, Autoimmunity, And Autoinflammation
Gingival bleeding, Epistaxis, Petechiae, Ecchymosis OMIM:620514
Acute Promyelocytic Leukemia
Gingival bleeding, Epistaxis, Diffuse alveolar hemorrhage, Abnormal bleeding, Bruising susceptibi... ORPHA:520
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly, Petechiae, ... OMIM:620296
Portal Hypertension, Noncirrhotic, 2
Epistaxis, Nodular regenerative hyperplasia of liver, Portal hypertension, Petechiae, Splenomegal... OMIM:619463
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Medullary nephrocalcinosis, Hypercalciuria, Hyperphosphaturia, Nephrolithiasis ORPHA:157215
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria OMIM:143880
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne... OMIM:612925
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi... ORPHA:47159
Gitelman Syndrome
Hypocalciuria, Enuresis, Renal magnesium wasting, Hypokalemic alkalosis, Polyuria, Nocturia, Rena... OMIM:263800
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolithiasis, Parath... OMIM:600740
Helix Syndrome
Hypocalciuria, Renal insufficiency, Polyuria, Nephrolithiasis OMIM:617671
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Hematuria, Hepatomegaly, Tachycardia, Jaundice, Purpura, Diffuse alveolar hemo... ORPHA:99827
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Congenital lactic acidosis, Increased circulating lactate concentration, Lactic acidosis, Metabol... OMIM:615824
Snakebite Envenomation
Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Acute kidney inj... ORPHA:449285
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... OMIM:273800
Bleeding Disorder, Platelet-Type, 11
Epistaxis, Bruising susceptibility, Ecchymosis, Prolonged bleeding time, Menorrhagia OMIM:614201
Carnitine-Acylcarnitine Translocase Deficiency
Oliguria, Dicarboxylic aciduria, Hyperammonemia, Cyanosis, Sudden episodic apnea ORPHA:159
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae, Ethylmalonic aciduria OMIM:602473
Renal Tubular Acidosis Iii
Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612924
Hydroxykynureninuria
Renal tubular acidosis, Metabolic acidosis ORPHA:79155
Epidermolysis Bullosa Simplex 5A, Ogna Type
Bruising susceptibility, Skin fragility with non-scarring blistering OMIM:131950
Hemophilia B
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Hematuria, Persistent... OMIM:306900
Central Hypoventilation Syndrome, Congenital, 1
Central hypoventilation, Nocturnal hypoventilation, Apnea, Hypoventilation, Hypoxemia, Hypercapnia OMIM:209880
Cardiogenic Shock
Increased circulating lactate concentration, Oliguria, Elevated circulating creatinine concentrat... ORPHA:97292
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Exercise-induced myoglobinuria, Dark urine, Renal insufficiency, R... ORPHA:99845
Thrombocytopenia 5
Epistaxis, Petechiae, Bruising susceptibility OMIM:616216
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Epistaxis, Bruising susceptibility, Ecchymosis OMIM:614009
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... OMIM:613496
Threoninemia
Hyperthreoninuria OMIM:273770
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Bruising susceptibility, Petechiae, Splenomegaly, Prolonged bleeding time OMIM:314050
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Apnea, Acute hyperammonemia, 3-hydroxy... OMIM:210200
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
Hereditary Renal Hypouricemia
Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol... ORPHA:94088
Lipoid Congenital Adrenal Hyperplasia
Renal salt wasting, Hypospadias OMIM:201710
Severe Acute Respiratory Syndrome
Respiratory distress, Acute kidney injury, Dyspnea, Hypoxemia ORPHA:140896
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Hypertrophic cardiomyopathy, Cyanosis, Myopathy, Low-output congestive hear... ORPHA:91130
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Renal tubular acidosis, Organic aciduria, Stress/infection-induced lactic acidosis ORPHA:431361
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Hematuria, Pulmonary edema, Glomerulonephritis, Tubulointerstitial nephri... ORPHA:340
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Increased circulating lactate concentration, Lactic acidosis, Renal insufficien... OMIM:614922
Acquired Purpura Fulminans
Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Pyoderma gangrenosum, In... ORPHA:49566
Carnosinemia
Carnosinuria OMIM:212200
Bernard-Soulier Syndrome
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding ... OMIM:231200
Hydroxylysinuria
Hyperlysinuria OMIM:236900
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Gastrointestinal hemorrhage, Abnormal urinary electrolyte concentration, Congestive ... ORPHA:85450
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Respiratory distress, Reduce... OMIM:613642
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Thickened glomerular basement membrane, Chronic kidney disease, Nephrocalcinosis, Unilateral rena... OMIM:146255
Familial Hypoaldosteronism
Renal salt wasting, Decreased urinary potassium, Metabolic acidosis, Proximal renal tubular acidosis ORPHA:427
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Dengue Fever
Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Bruising susceptibility, ... ORPHA:99828
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Increased circulating lactate concentration, Lactic acidosis, Organic aciduria OMIM:614741
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome, Increased circulating lactate concentration OMIM:614652
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Warfarin-induced skin necrosis, Pulmonary embolism OMIM:176860
Camptodactyly 1
Increased urinary taurine OMIM:114200
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Respiratory distress, Neonatal death, Death in adolescence, Pulmonary a... OMIM:619751
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia ORPHA:89937
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae, Ethylmalonic aciduria ORPHA:51188
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Petechiae, Striae distensae, Bruising susceptibility OMIM:225310
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Aminoaciduria, Nephrocalcinosis, Reduced renal corticomedullary differentiation, Ren... OMIM:208085
Hyperaldosteronism, Familial, Type Iii
Hypercalciuria, Polyuria, Metabolic acidosis OMIM:613677
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Increased urinary taurine ORPHA:1325
Gracile Syndrome
Renal Fanconi syndrome, Lactic acidosis ORPHA:53693
Fructose Intolerance, Hereditary
Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Lactic acidosis, Hyperphosphaturia, Me... OMIM:229600
Gracile Syndrome
Aminoaciduria, Chronic lactic acidosis OMIM:603358
Carnitine Palmitoyltransferase I Deficiency
Hyperammonemia, Ketonuria, Renal tubular acidosis, Dicarboxylic aciduria OMIM:255120
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Prolonged ble... OMIM:187900
Alpha-Methylacetoacetic Aciduria
Episodic ketoacidosis, Elevated urinary 2-methyl-3-hydroxybutyric acid level OMIM:203750
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... OMIM:265120
Pseudo-Torch Syndrome 2
Pleural effusion, Petechiae, Bradycardia, Abnormal renal corticomedullary differentiation, Cerebr... OMIM:617397
Cutaneous Small Vessel Vasculitis
Vasculitis, Erythema, Cutis marmorata, Purpura, Urticaria ORPHA:889
Indolylacroyl Glycinuria With Impaired Intellectual Development
Hyperglycinuria OMIM:243050
Prothrombin Deficiency, Congenital
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... OMIM:613679
Colchicine Poisoning
Oliguria, Respiratory distress, Lactic acidosis, Renal insufficiency, Metabolic acidosis, Abnorma... ORPHA:31824
Familial Hypocalciuric Hypercalcemia
Hypocalciuria, Hypomagnesiuria, Nephrolithiasis, Parathormone-independent increased renal tubular... ORPHA:405
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Ketonuria, Apnea, Lactic acidosis, Cyanosis, Renal steatosis OMIM:261680
Phosphohydroxylysinuria
Phosphohydroxylysinuria OMIM:615011
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Drug-Induced Lupus Erythematosus
Petechiae, Hematuria, Dyspnea, Prolonged QTc interval, Pericarditis ORPHA:231111
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Muscle hemorrhage, Jo... ORPHA:903
Carnitine Palmitoyl Transferase 1A Deficiency
Renal tubular acidosis ORPHA:156
Mitochondrial Complex I Deficiency, Nuclear Type 14
Apnea, Increased circulating lactate concentration, Lactic acidosis OMIM:618236
Sepsis In Premature Infants
Hypotension, Oliguria, Abnormal bleeding, Reversible renal failure, Petechiae, Splenomegaly, Pall... ORPHA:90051
Acute Monoblastic/Monocytic Leukemia
Oliguria, Exertional dyspnea ORPHA:514
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Persistent bleeding after trauma, Petechiae, Bruising susceptibility OMIM:300367
Orthostatic Hypotensive Disorder, Streeten Type
Facial erythema, Syncope, Orthostatic hypotension, Bruising susceptibility OMIM:143850
Hypokalemic Tubulopathy And Deafness
Renal salt wasting, Acidosis OMIM:619406
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis OMIM:222730
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Respiratory distress, Tricuspid regurgitation, Pleural effusion, Spleno... ORPHA:2414
Kearns-Sayre Syndrome
Renal Fanconi syndrome, Renal tubular acidosis, Lactic acidosis OMIM:530000
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy, 2-ethylhydracylic aciduria OMIM:610006
Perching Syndrome
Respiratory distress, Camptodactyly, Cyanosis, Joint contracture OMIM:617055
Leukocyte Adhesion Deficiency, Type Iii
Epistaxis, Abnormal bleeding, Hepatosplenomegaly, Petechiae, Splenomegaly, Hepatomegaly OMIM:612840
Glycogen Storage Disease Xi
Increased circulating lactate concentration, Myoglobinuria, Renal insufficiency OMIM:612933
Diffuse Cutaneous Systemic Sclerosis
Dyspnea, Oliguria, Renal insufficiency ORPHA:220393
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Glycosuria,... ORPHA:411634
Lassa Fever
Dyspnea, Oliguria ORPHA:99824
Prolidase Deficiency
Recurrent pneumonia, Skin ulcer, Petechiae, Splenomegaly, Prolonged neonatal jaundice, Diffuse te... OMIM:170100
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Respiratory distress, Cyanosis, Type II pneumocyte ... OMIM:263000
Systemic Capillary Leak Syndrome
Abnormal renal tubule morphology, Renal insufficiency, Oliguria ORPHA:188
Hypomagnesemia 3, Renal
Chronic kidney disease, Hematuria, Macroscopic hematuria, Acidosis, Sterile pyuria, Renal magnesi... OMIM:248250
Diaminopentanuria
Hyperlysinuria, Cystinuria OMIM:222350
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypercalciuria OMIM:242050
Bardet-Biedl Syndrome 16
Bronchiolitis, Renal agenesis, Respiratory distress, Stage 5 chronic kidney disease, Renal insuff... OMIM:615993
Primary Myelofibrosis
Abnormal bleeding, Hepatosplenomegaly, Portal hypertension, Petechiae, Splenomegaly, Ecchymosis, ... ORPHA:824
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypotension, Atelectasis, Cyanosis, Respiratory tract infection, Cardiac arrest, Pulmo... ORPHA:70587
Congenital Fibrinogen Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis,... ORPHA:335
Joubert Syndrome 9
Episodic tachypnea, Apnea, Stage 5 chronic kidney disease OMIM:612285
Slc35A1-Cdg
Pneumonia, Abnormal bleeding, Respiratory distress, Subcutaneous hemorrhage, Pulmonary hemorrhage... ORPHA:238459
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Recurrent urinary tract infect... OMIM:248190
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Proximal tubulopathy, Respiratory distress, Lactic acidosis, Severe lactic acidosis OMIM:612075
Malignant Hyperthermia, Susceptibility To, 4
Acidosis OMIM:600467
Cataract-Nephropathy-Encephalopathy Syndrome
Renal tubular dysfunction ORPHA:1380
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Episodic ketoacidosis, Tachypnea, Elevated urinary 3-hydroxybutyric acid, Ketonuria OMIM:245050
Hyperglycinuria
Calcium oxalate nephrolithiasis, Hyperglycinuria OMIM:138500
Mitochondrial Complex I Deficiency, Nuclear Type 6
Increased circulating lactate concentration, Apnea, Lactic acidosis, Metabolic acidosis, Severe l... OMIM:618228
Tufted Angioma
Purpura, Petechiae ORPHA:1063
Propionic Acidemia
Hyperglycinuria, Increased level of hippuric acid in urine, Lactic acidosis, Apnea, Hyperammonemi... OMIM:606054
Combined Malonic And Methylmalonic Acidemia
Acidosis, Ketoacidosis, Methylmalonic aciduria, Dicarboxylic aciduria, Dicarboxylic acidemia, Met... ORPHA:289504
Wiskott-Aldrich Syndrome
Gingival bleeding, Nephropathy, Arrhythmia, Purpura, Vasculitis, Urticaria, Hematochezia, Skin ul... ORPHA:906
Hawkinsinuria
4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylacetic aciduria, Metabolic acidosis ORPHA:2118
Bleeding Disorder, Platelet-Type, 16
Abnormal bleeding, Petechiae OMIM:187800
Mitochondrial Complex I Deficiency, Nuclear Type 24
Increased circulating lactate concentration OMIM:618245
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria OMIM:268315
Mitochondrial Complex I Deficiency, Nuclear Type 35
Lactic acidosis, Metabolic acidosis, Lacticaciduria, Elevated urinary 4-hydroxybutyric acid, Elev... OMIM:619003
Pulmonary Arteriovenous Malformation
Epistaxis, Abnormal bleeding, Pulmonary hemorrhage, Palpitations, Hemothorax, Transient ischemic ... ORPHA:2038
Metaphyseal Chondrodysplasia, Jansen Type
Nephrocalcinosis, Hypercalciuria, Hyperphosphaturia OMIM:156400
Familial Renal Glucosuria
Nephropathy, Glycosuria, Renal tubular dysfunction, Recurrent urinary tract infections ORPHA:69076
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc... OMIM:619468
Intellectual Developmental Disorder, Autosomal Recessive 1
Increased circulating lactate concentration OMIM:249500
Autoimmune Lymphoproliferative Syndrome, Type Iia
Vasculitis, Gastrointestinal hemorrhage, Nephritis, Petechiae, Splenomegaly, Hepatomegaly, Nephro... OMIM:603909
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Purpura, Warfarin-induced skin necrosis, Pulmonary embolism ORPHA:745
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... OMIM:300554
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting OMIM:193100
Meningococcal Meningitis
Hypotension, Shock, Renal insufficiency, Petechiae, Purpura ORPHA:33475
Aneurysm Of Sinus Of Valsalva
Dyspnea, Oliguria ORPHA:1054
Cystinosis, Nephropathic
Aminoaciduria, Generalized aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Medullary... OMIM:219800
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Gingival bleeding, Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction... OMIM:153670
Congenital Alpha2-Antiplasmin Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... ORPHA:79
Oncogenic Osteomalacia
Renal phosphate wasting, Hyperphosphaturia ORPHA:352540
Anti-Glomerular Basement Membrane Disease
Vasculitis, Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Purpura ORPHA:375
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Subcutaneous hemorrhage, Purpura, Pulmonary embolism, Skin ulcer ORPHA:743
Monocarboxylate Transporter 1 Deficiency
Ketoacidosis, Ketonuria OMIM:616095
Hydroxykynureninuria
Elevated urinary 3-hydroxykynurenine level, Elevated urinary xanthurenic acid level OMIM:236800
Bronchopulmonary Dysplasia
Right ventricular failure, Atelectasis, Respiratory distress, Emphysema, Central apnea, Hyperoxem... ORPHA:70589
Riboflavin Deficiency
Lactic acidosis, Metabolic acidosis, Dicarboxylic aciduria OMIM:615026
Buerger Disease
Vasculitis, Arterial occlusion, Skin ulcer, Intermittent claudication, Livedo reticularis, Raynau... ORPHA:36258
Roch-Leri Mesosomatous Lipomatosis
Purpura ORPHA:529
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Increased level of methylsuccinic acid in urine, Metabolic acidosis, Ethylm... ORPHA:26792
Asbestos Intoxication
Right ventricular failure, Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular ... ORPHA:2302
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Increased circulating lactate concentration, Apnea, Metabolic acidosis OMIM:617290
Leigh Syndrome
Generalized aminoaciduria, Increased circulating lactate concentration, Ketoacidosis, Methylmalon... ORPHA:506
Renal Glucosuria
Enuresis nocturna, Glycosuria, Polyuria OMIM:233100
Primary Release Disorder Of Platelets
Abnormal bleeding, Bruising susceptibility, Menorrhagia, Spontaneous, recurrent epistaxis OMIM:176630
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Neonatal death, Tachypnea, Paraseptal emphysema, Reticular pattern on pulmo... OMIM:610921
Fetal Cytomegalovirus Syndrome
Hepatitis, Petechiae, Splenomegaly, Hepatomegaly, Retinal hemorrhage, Jaundice ORPHA:294
Combined Malonic And Methylmalonic Aciduria
Ketoacidosis, Methylmalonic aciduria OMIM:614265
Homocarnosinosis
Carnosinuria OMIM:236130
Thrombocytopenia 10
Abnormal bleeding, Bruising susceptibility, Petechiae, Spontaneous, recurrent epistaxis, Menorrhagia OMIM:620484
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased circulating lactate concentration, Lacticaciduria OMIM:619063
Griscelli Syndrome Type 2
Premature graying of hair, Splenomegaly, Petechiae, Hepatomegaly, Jaundice ORPHA:79477
Gaucher Disease, Perinatal Lethal
Arthrogryposis multiplex congenita, Respiratory distress, Hepatosplenomegaly, Apnea, Petechiae, S... OMIM:608013
Aicardi-Goutieres Syndrome 1
Vasculitis, Erythema, Cardiomyopathy, Petechiae, Splenomegaly, Hepatomegaly, Prolonged neonatal j... OMIM:225750
Fructose-1,6-Bisphosphatase Deficiency
Increased urinary glycerol, Respiratory distress, Episodic tachypnea, Intermittent lactic acidemi... ORPHA:348
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria ORPHA:2278
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Renal tubular dysfunction OMIM:606528
Pseudo-Torch Syndrome 1
Renal insufficiency, Petechiae, Splenomegaly, Hepatomegaly, Jaundice, Patent ductus arteriosus OMIM:251290
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Bruising susceptibility, Petechiae, Splenomegaly, Ecchymosis, Hepatome... ORPHA:540
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Abnormal bleeding, Petechiae ORPHA:158029
Fibrinolytic Defect
Spontaneous hematomas OMIM:134900
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Nasal polyposis, Congestive heart failure, Hypertrophic cardiomyopathy, Transient isc... ORPHA:183
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Interlobular septal thickening, Hemothora... ORPHA:199241
Microscopic Polyangiitis
Hematuria, Glomerulopathy, Oliguria, Renal insufficiency ORPHA:727
Boutonneuse Fever
Vasculitis, Renal insufficiency, Petechiae ORPHA:83313
Type 1 Diabetes Mellitus
Ketoacidosis, Polyuria OMIM:222100
Congenital Factor V Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... ORPHA:326
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Abnormal pulmonary interstitia... ORPHA:2032
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility OMIM:614200
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intralobular septal thickening, Bronchiectasis, Spontaneous pneumothorax, Recurrent pneumonia, In... OMIM:610913
Gaucher Disease Type 2
Abnormal pattern of respiration, Recurrent respiratory infections, Respiratory distress, Splenome... ORPHA:77260
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Portal vein thrombosis, Pulmonary embolism, Miscarriage ORPHA:82
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Micropenis, Hypercalciuria, Hypospadias OMIM:614732
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Increased circulating lactate concentration, Myoglobinuria, Renal insufficiency ORPHA:2364
Heparin-Induced Thrombocytopenia
Abnormal onset of bleeding, Cerebral ischemia, Pulmonary embolism, Myocardial infarction ORPHA:3325
Complement Component 2 Deficiency
Purpura OMIM:217000
5-Oxoprolinase Deficiency
Calcium oxalate nephrolithiasis, Increased level of L-pyroglutamic acid in urine, Prolinuria OMIM:260005
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Schimmelpenning-Feuerstein-Mims Syndrome
Horseshoe kidney, Hyperphosphaturia OMIM:163200
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Renal Fanconi syndrome, Glycosuria, Metabolic ketoacidosis ORPHA:263455
Lujo Hemorrhagic Fever
Oliguria, Respiratory distress, Renal insufficiency, Metabolic acidosis, Microscopic hematuria ORPHA:319213
Developmental And Epileptic Encephalopathy 50
Oroticaciduria, Hyperammonemia, Renal tubular acidosis OMIM:616457
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Tachypnea, Abnormally loud pulmonic component of the second heart sound, Pr... ORPHA:99106
Vici Syndrome
Renal tubular acidosis, Ureteral atresia ORPHA:1493
Joubert Syndrome 7
Nephronophthisis, Episodic tachypnea, Stage 5 chronic kidney disease, Renal cyst, Tachypnea, Cent... OMIM:611560
Mitochondrial Complex I Deficiency, Nuclear Type 33
Increased circulating lactate concentration, Apnea, Lactic acidosis, Hyperammonemia, Metabolic ac... OMIM:618253
Pauci-Immune Glomerulonephritis
Acute kidney injury, Arteritis, Crescentic glomerulonephritis, Pulmonary hemorrhage, Decreased gl... ORPHA:93126
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Combined Oxidative Phosphorylation Deficiency 9
Increased circulating lactate concentration, Dyspnea, Elevated serum anion gap, Ketoacidosis, Met... OMIM:614582
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Mitochondrial Complex I Deficiency, Nuclear Type 4
Increased circulating lactate concentration, Apnea, Metabolic acidosis OMIM:618225
Hypocalcemia, Autosomal Dominant 1
Decreased glomerular filtration rate, Nephrocalcinosis, Hypercalciuria, Nephrolithiasis OMIM:601198
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Lactic acidosis, Organic aciduria OMIM:617184
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... OMIM:277450
Mitochondrial Complex I Deficiency, Nuclear Type 13
Acidosis, Apnea, Metabolic acidosis OMIM:618235
Pleural Mesothelioma
Dyspnea, Respiratory distress, Abnormal pleura morphology, Abnormal cardiovascular system physiol... ORPHA:50251
Cholera
Acidosis, Acute kidney injury, Lactic acidosis, Tachypnea, Decreased urine output, Hyperventilati... ORPHA:173
Ethylene Glycol Poisoning
Elevated serum anion gap, Abnormal pattern of respiration, Lactic acidosis, Renal insufficiency, ... ORPHA:31826
Kaposiform Lymphangiomatosis
Epistaxis, Abnormal lung morphology, Abnormal bleeding, Bruising susceptibility, Pancreatic cysts... ORPHA:464329
Renal Tubular Dysgenesis
Abnormality of the urinary system, Renotubular dysgenesis, Anuria OMIM:267430
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Increased circulating lactate concentration, Lactic acidosis, Hyperammonemia, Renal tubular acido... OMIM:615471
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Splenomegaly, Facial palsy, Petechiae OMIM:611490
Hyperprolinemia, Type I
Hyperglycinuria, Prolinuria, Hydroxyprolinuria OMIM:239500
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Mesangial hypercellularity, Tac... OMIM:616414
Combined Oxidative Phosphorylation Deficiency 44
Increased circulating lactate concentration OMIM:618855
High Altitude Pulmonary Edema
Cyanosis, Pulmonary edema, Tachypnea, Orthopnea, Dyspnea, Tachycardia, Hypoxemia ORPHA:330012
Lipoyltransferase 1 Deficiency
Increased circulating lactate concentration, Lactic acidosis, Lacticaciduria, Alaninuria, Hypergl... OMIM:616299
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Arrhythmia, Orthopnea, Systolic heart murmur, Right ventricular failure, Tr... ORPHA:99103
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypercalciuria, Polyuria OMIM:300971
Simple Cryoglobulinemia
Cold urticaria, Abnormality of the kidney, Nephrotic syndrome, Purpura, Vasculitis, Gastrointesti... ORPHA:91139
Cryofibrinogenemia, Familial Primary
Hematuria, Transient nephrotic syndrome, Acrocyanosis OMIM:123540
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Elevated urinary 3-hydr... OMIM:615751
Bleeding Disorder In Hemophilia A Carriers
Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, Prolonged bleeding ... ORPHA:177926
Phosphoserine Aminotransferase Deficiency
Apnea, Cyanotic episode OMIM:610992
Mirage Syndrome
Microphallus, Recurrent urinary tract infections, Aspiration pneumonia, Petechiae, Hypoplastic sp... OMIM:617053
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Intercostal retractions, Righ... ORPHA:1329
Methionine Malabsorption Syndrome
Aminoaciduria, Tachypnea OMIM:250900
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal potassium wasting, Renal magnesium wasting, Polyuria OMIM:618314
Hyperlysinuria With Hyperammonemia
Hyperlysinuria, Dibasicaminoaciduria, Hyperammonemia OMIM:238750
Combined Oxidative Phosphorylation Deficiency 55
Increased circulating lactate concentration, Proximal tubulopathy, Organic aciduria, Stage 3 chro... OMIM:619743
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria, Hyperammonemia ORPHA:147
Primary Hyperoxaluria
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Stage 5 chronic kid... ORPHA:416
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Respiratory distress, Reduced left ventricula... ORPHA:45452
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine, Chronic metabolic acidosis OMIM:266130
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Elevated urinary formiminoglutamic acid level OMIM:229100
Mitochondrial Complex I Deficiency, Nuclear Type 26
Elevated lactate:pyruvate ratio, Increased circulating lactate concentration, Metabolic acidosis,... OMIM:618247
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Respiratory distress, Myopathy, Type 1 fibers relatively smaller than typ... OMIM:300580
Malignant Hyperthermia, Susceptibility To, 5
Hypercapnia OMIM:601887
Adult Acute Respiratory Distress Syndrome
Metabolic acidosis, Abnormal blood gas level, Dyspnea, Hypoxemia, Diabetic ketoacidosis ORPHA:70578
Hyperimmunoglobulinemia D With Periodic Fever
Vasculitis, Gastrointestinal hemorrhage, Erythema, Peritonitis, Hepatomegaly, Acrocyanosis, Purpu... ORPHA:343
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Increased circulating lactate concentration OMIM:619062
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Hematochezia, Epistaxis, Bruising susceptibility, Cardiomyopathy, Renal insuff... OMIM:203300
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Elevated circulating creatinine concentration, Tachypnea, Decreased urine ou... ORPHA:542323
Holocarboxylase Synthetase Deficiency
Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, Lactic acidosis, Hyperammonemia... OMIM:253270
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria OMIM:606996
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitation... ORPHA:99104
Acquired Methemoglobinemia
Respiratory distress, Palpitations, Cyanosis, Arrhythmia, Syncope, Dyspnea, Tachycardia, Hypoxemia ORPHA:464453
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Combined Oxidative Phosphorylation Deficiency 59
Increased circulating lactate concentration, Apnea, Dicarboxylic aciduria OMIM:620646
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased circulating lactate concentration, Chronic lactic acidosis, Lactic acidosis, Metabolic ... OMIM:312170
3-Methylglutaconic Aciduria Type 9
Urinary incontinence, Increased circulating lactate concentration, 3-Methylglutaconic aciduria ORPHA:505216
Mixed Connective Tissue Disease
Nephropathy, Gastrointestinal hemorrhage, Pleuritis, Splenomegaly, Myositis, Hepatomegaly, Pulmon... ORPHA:809
Congenital Sialidosis Type 2
Abnormal EKG, Hepatosplenomegaly, Petechiae, Respiratory tract infection, Telangiectasia, Abnorma... ORPHA:93400
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Shock, Tachypnea, Dyspnea, Abnormal... ORPHA:178320
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Increased circulating lactate concentration, Renal insufficiency, Metabolic acidos... OMIM:619386
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Mitochondrial Complex I Deficiency, Nuclear Type 5
Apnea, Increased circulating lactate concentration, Lactic acidosis, Metabolic acidosis OMIM:618226
Familial Hyperaldosteronism Type Iii
Hypercalciuria, Metabolic alkalosis ORPHA:251274
Bacterial Toxic-Shock Syndrome
Pneumonia, Hypotension, Hepatitis, Recurrent urinary tract infections, Respiratory distress, Shoc... ORPHA:36234
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Stimmler Syndrome
Aminoaciduria ORPHA:3199
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Hatipoglu Immunodeficiency Syndrome
Poor wound healing, Premature graying of hair, Dry skin, Petechiae, Recurrent bronchitis, Hypospa... OMIM:620331
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Abnormal QRS complex, Heart murmur, Right ventricular hypertrophy, Cyan... ORPHA:860
Argininemia
Diaminoaciduria, Hyperammonemia ORPHA:90
Pseudo-Torch Syndrome 3
Proteinuria, Acute kidney injury, Apnea OMIM:618886
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Factor Vii Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction... OMIM:227500
Methylmalonyl-Coa Epimerase Deficiency
Ketonuria, Methylmalonic aciduria, Metabolic acidosis OMIM:251120
D-2-Hydroxyglutaric Aciduria 1
Glutaric aciduria, Apnea, D-2-hydroxyglutaric aciduria OMIM:600721
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Bruising susceptibility, Poor wound healing, Striae distensae, Nephrolit... OMIM:219090
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Calcium nephrolithiasis, Hypercalciuria, Renal tubular dysfunction OMIM:241530
Hypophosphatasia, Infantile
Nephrocalcinosis, Phosphoethanolaminuria, Apnea, Hypercalciuria, Elevated urine pyrophosphate OMIM:241500
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia, Death in infancy OMIM:254120
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Increased circulating lactate concentration, Hyperechogenic kidneys, Prot... OMIM:613845
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypercalciuria ORPHA:2239
Galactosemia Iii
Aminoaciduria, Galactosuria OMIM:230350
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Apnea, Multiple renal cysts OMIM:614883
Bilateral Striopallidodentate Calcinosis
Subcutaneous hemorrhage, Hepatomegaly, Abnormality of the liver ORPHA:1980
Nephronophthisis 1
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... OMIM:256100
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Nephrocalcinosis, Renal potassium wasting, Renal magnesium wasting ORPHA:564178
Moderate Hemophilia A
Gingival bleeding, Gastrointestinal hemorrhage, Joint hemorrhage, Abnormal bleeding, Subdural hem... ORPHA:169805
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia ORPHA:141152
Ehlers-Danlos Syndrome, Classic Type, 2
Fragile skin, Bruising susceptibility, Recurrent sinusitis OMIM:130010
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Myoglobinuria, Lactic acidosis, Renal tubular acidosis ORPHA:79240
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ... ORPHA:98913
Glucose/Galactose Malabsorption
Glycosuria, Metabolic acidosis OMIM:606824
Severe Hemophilia A
Epistaxis, Gastrointestinal hemorrhage, Joint hemorrhage, Prolonged bleeding following circumcisi... ORPHA:169802
Glutaric Acidemia Type 3
Elevated circulating glutaric acid concentration, Glutaric aciduria, Ketoacidosis, Ketonuria ORPHA:35706
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Increased circulating lactate concentration OMIM:616209
Autoerythrocyte Sensitization Syndrome
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Ecchymo... ORPHA:324636
Oculopharyngodistal Myopathy 1
Respiratory distress, Aspiration, Hypercapnia OMIM:164310
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Oliguria, Lactic acidosis, Hypocapnia, Tachypnea ORPHA:466650
Mccune-Albright Syndrome
Renal phosphate wasting, Hyperphosphaturia, Renal tubular dysfunction ORPHA:562
Biotinidase Deficiency
Organic aciduria, Apnea, Hyperammonemia, Tachypnea, Metabolic ketoacidosis OMIM:253260
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ketoacidosis, Elevated serum anion gap, Lactic acidosis, Hyperammonemia, 3-Methylglutaconic aciduria OMIM:618120
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Hematuria, Proteinuria, Dyspnea, Hypoxemia ORPHA:90060
Thrombocytopenia 3
Epistaxis, Petechiae OMIM:273900
East Syndrome
Abnormal urinary electrolyte concentration, Renal magnesium wasting, Renal sodium wasting, Metabo... ORPHA:199343
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Left ventricular hypertrophy, Abnormal renal corticomedullary differentiati... OMIM:616733
Acute Interstitial Pneumonia
Bronchiectasis, Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thick... ORPHA:79126
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Increased circulating lactate concentration, Ketoacidosis, Ketonuria, Episodic ketoacidosis, Lact... OMIM:615453
Isovaleric Acidemia
Metabolic acidosis ORPHA:33
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Renal insufficiency, Incr... OMIM:613090
Acute Liver Failure
Acidosis, Acute kidney injury, Alkalosis, Abnormal pattern of respiration, Hyperammonemia, Hypoca... ORPHA:90062
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Purpura, Petechiae OMIM:605432
Ventilator-Induced Diaphragmatic Dysfunction
Hypercapnia ORPHA:505395
Pontocerebellar Hypoplasia, Type 16
Apnea, Recurrent urinary tract infections OMIM:619527
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Epistaxis, Bruising susceptibility, Petechiae, Ecchymosis, Purpura, Prolonged bleeding time OMIM:601399
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria ORPHA:417
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hydronephrosis, Apnea OMIM:619797
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Nephronophthisis 9
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts OMIM:613824
Primary Pulmonary Hypoplasia
Ureteral stenosis, Apnea, Cyanosis, Tachypnea, Hypoxemia ORPHA:2257
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Low-molecular-weight proteinuria, Stage 5 chronic kidney disease, Renal insufficie... OMIM:309000
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:254210
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Erythema, Abnormal capillary physiology, Angioedema ORPHA:100057
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Myoglobinuria, Lactic acidosis, Renal tubular acidosis ORPHA:264580
Fucosidosis
Bruising susceptibility, Oligosacchariduria, Recurrent respiratory infections, Dry skin, Angioker... OMIM:230000
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria, Abnormal pattern of respiration ORPHA:833
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Gitelman Syndrome
Focal segmental glomerulosclerosis, Enuresis, Respiratory distress, Renal tubular acidosis, Prote... ORPHA:358
Hawkinsinuria
Metabolic acidosis, Hawkinsinuria, 4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia, 4-hydroxyph... OMIM:140350
Gray Platelet Syndrome
Epistaxis, Abnormal bleeding, Bruising susceptibility, Splenomegaly ORPHA:721
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions, Cyanosis ORPHA:137935
X-Linked Hypophosphatemia
Renal phosphate wasting, Hypocalciuria ORPHA:89936
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Isovaleric Acidemia
Hyperglycinuria, Ketoacidosis, Elevated urinary isovalerylglycine level, Metabolic acidosis OMIM:243500
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibros... OMIM:618913
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Abnormality of renal excretion, Hyperphosphaturia ORPHA:289176
Biotinidase Deficiency
Organic aciduria, Respiratory distress, Apnea, Hyperammonemia, Hyperventilation, Metabolic ketoac... ORPHA:79241
Hemochromatosis, Type 3
Cirrhosis, Purpura, Cardiomyopathy OMIM:604250
Bleeding Disorder, Platelet-Type, 22
Subcutaneous hemorrhage, Bleeding with minor or no trauma, Gastrointestinal hemorrhage, Excessive... OMIM:618462
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Renal salt wasting, Metabolic acidosis OMIM:264350
Thrombocytopenia 1
Epistaxis, Joint hemorrhage, Petechiae, Bruising susceptibility OMIM:313900
Cystathioninuria
Cystathioninuria, Nephrolithiasis ORPHA:212
Bleeding Disorder, Platelet-Type, 19
Menorrhagia, Epistaxis, Abnormal bleeding, Spontaneous hematomas OMIM:616176
Immunodeficiency 81
Petechiae OMIM:619374
Mitochondrial Complex I Deficiency, Nuclear Type 29
Increased circulating lactate concentration, Stage 5 chronic kidney disease, Lactic acidosis, Lac... OMIM:618250
Combined Oxidative Phosphorylation Deficiency 36
Aciduria, Increased circulating lactate concentration OMIM:617950
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Infection-Related Hemolytic Uremic Syndrome
Acute kidney injury, Oliguria, Dyspnea, Anuria, Decreased urine output, Nephrotic range proteinuria ORPHA:544482
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Prolonged bleedin... OMIM:615888
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:605809
3-Methylglutaconic Aciduria, Type I
Urinary incontinence, Metabolic acidosis, 3-Methylglutaconic aciduria OMIM:250950
Congenital Syphilis
Pneumonia, Hepatosplenomegaly, Palmoplantar scaling skin, Petechiae, Prolonged neonatal jaundice,... ORPHA:499009
Bleeding Disorder, Platelet-Type, 20
Epistaxis, Bruising susceptibility, Menorrhagia OMIM:616913
Von Willebrand Disease, Type 2
Epistaxis, Bruising susceptibility, Menorrhagia OMIM:613554
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria, Metabolic acidosis OMIM:602199
3-Methylglutaconic Aciduria, Type Ix
Urinary incontinence, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Increased circulati... OMIM:617698
Galactosemia I
Aminoaciduria, Galactosuria, Metabolic acidosis, Increased level of galactitol in urine, Albuminu... OMIM:230400
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Acidosis, Glycosuria, Elevate... OMIM:231680
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, E... OMIM:174000
Pontocerebellar Hypoplasia, Type 6
Increased circulating lactate concentration, Apnea OMIM:611523
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Auriculocondylar Syndrome 4
Apnea OMIM:620457
Hemophilia A
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem... ORPHA:98878
Duplication Of Urethra
Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli... ORPHA:237
Interstitial Lung Disease 2
Usual interstitial pneumonia, Alveolar cell carcinoma, Cirrhosis, Pulmonary arterial hypertension... OMIM:178500
Meconium Aspiration Syndrome
Atelectasis, Aspiration pneumonia, Respiratory distress, Pulmonary arterial hypertension, Pneumot... ORPHA:70588
Waldenström Macroglobulinemia
Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, ... ORPHA:33226
Galactose Epimerase Deficiency
Aminoaciduria ORPHA:79238
Wilson Disease
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Nephrolithiasis, Protein... OMIM:277900
Coach Syndrome 2
Apneic episodes in infancy, Elevated circulating creatinine concentration, Hyperechogenic kidneys OMIM:619111
2P21 Microdeletion Syndrome
Cystinuria, Lactic acidosis, Nephrolithiasis ORPHA:163693
Joubert Syndrome 3
Episodic tachypnea, Stage 5 chronic kidney disease, Central apnea, Nephronophthisis OMIM:608629
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Increased urine alpha-ketoglutarate concentration, Increased circulating lactate concentration, L... OMIM:614458
Tyrosinemia, Type I
Nephrocalcinosis, Elevated urinary succinylacetone level, Renal insufficiency, Metabolic acidosis... OMIM:276700
Succinic Acidemia
Respiratory distress, Lactic acidosis OMIM:600335
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Polyuria, Metabolic acidosis OMIM:620152
Aortic Arch Interruption
Aortic regurgitation, Congestive heart failure, Respiratory distress, Tricuspid regurgitation, Sh... ORPHA:2299
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
3-Methylglutaconic Aciduria Type 4
Lactic acidosis, 3-Methylglutaconic aciduria ORPHA:67048
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Cyanosis, Tachypnea, Hyperventilation, Hypoxemia ORPHA:91359
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Absence Of The Pulmonary Artery
Recurrent pneumonia, Bronchiectasis, Atrial flutter, Pulmonary hypoplasia, Abnormal hemidiaphragm... ORPHA:980
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Increased urine alpha-ketoglutarate concentration, Increased circulating lactate concentration OMIM:619224
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis ORPHA:3033
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction OMIM:137560
Pearson Marrow-Pancreas Syndrome
3-Methylglutaric aciduria, Lactic acidosis, Metabolic acidosis, Renal Fanconi syndrome, Hypercalc... OMIM:557000
Tyrosinemia Type 1
Generalized aminoaciduria ORPHA:882
Combined Oxidative Phosphorylation Deficiency 16
Increased circulating lactate concentration OMIM:615395
Myopathy And Diabetes Mellitus
Sternocleidomastoid amyotrophy, Weakness of orbicularis oculi muscle, Shoulder girdle muscle weak... ORPHA:2596
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Recurrent viral upper respiratory tract i... OMIM:619773
Sulfite Oxidase Deficiency, Isolated
Sulfocysteinuria, Decreased urinary sulfate, Metabolic acidosis, Increased urinary sulfite level OMIM:272300
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Nephrocalcinosis, Hypercalciuria, Hypermagnesiuria, Hypokalemi... ORPHA:73224
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Hypertrophic cardiomyopathy, Pallor, Ragged-red muscle fibers, Hepatomegaly... OMIM:613561
Senior-Loken Syndrome 1
Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... OMIM:266900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Acute kidney injury, Anuria, Hemolytic-uremic synd... OMIM:235400
Immunoglobulin A Vasculitis
Vasculitis, Gastrointestinal hemorrhage, Erythema, Bruising susceptibility, Angioedema, Vascular ... ORPHA:761
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Spasticity, Childhood-Onset, With Hyperglycinemia
Increased circulating lactate concentration OMIM:616859
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Respiratory distress, Hypert... OMIM:261740
Developmental And Epileptic Encephalopathy 90
Apneic episodes in infancy, Fetal pyelectasis OMIM:301058
Ehlers-Danlos Syndrome, Periodontal Type, 2
Gingival bleeding, Bruising susceptibility, Nephroblastoma, Fragile skin, Prominent superficial v... OMIM:617174
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage... ORPHA:567548
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Increased circulating lactate concentration OMIM:619196
Central Hypoventilation Syndrome, Congenital, 3
Apnea, Central hypoventilation OMIM:619483
Acetyl-Coa Carboxylase-Alpha Deficiency
Increased circulating lactate concentration OMIM:613933
Combined Oxidative Phosphorylation Defect Type 23
Paroxysmal dyspnea, Congestive heart failure, Hypertrophic cardiomyopathy, Cyanosis, Severely red... ORPHA:444013
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Bronchiectasis, Right ventricular failure, Bronchitis, Interlobular sept... ORPHA:60025
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Purpura ORPHA:3204
Bartter Syndrome Type 4
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Stage 5 chronic kidney disease, In... ORPHA:89938
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Respiratory distress, Recurrent acute ... OMIM:620011
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting OMIM:613743
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Myasthenic Syndrome, Congenital, 16
Apnea OMIM:614198
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, Increased circulating lactate concentration, Renal hypoplasia, 3-Methylglutaconic ... OMIM:604273
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Increased circulating lactate concentration, Renal hypoplasia, Ketonuria, Metabolic acidosis OMIM:619053
Combined Oxidative Phosphorylation Deficiency 18
Increased circulating lactate concentration, Lactic acidosis, Methylmalonic aciduria OMIM:615578
Pontocerebellar Hypoplasia Type 4
Central apnea ORPHA:166063
Idiopathic Aplastic Anemia