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Gene: Gpr4 MGI:2441992

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Renal Tubular Acidosis, Proximal
Hyperchloremic acidosis, Renal tubular acidosis, Proximal renal tubular acidosis OMIM:179830
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Metabolic acidosis, Glycosuria,... OMIM:615605
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Tiglic Acidemia
Aminoaciduria, Acidosis OMIM:275190
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Miscarriage, Prolonged bleeding after dental ex... ORPHA:465
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Acidosis, Stage 5 chronic kidney disease, Lobul... OMIM:137950
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Increased serum lactate, Chronic kidney disease, Respiratory insufficiency, Renal tubular acidosi... ORPHA:324525
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tubular acidosis, P... OMIM:604278
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due to muscle wea... OMIM:220110
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss
Renal tubular acidosis, Nephrolithiasis OMIM:267300
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Hypercalciuria, Hyperphosphaturia, Nephrolithiasis OMIM:612286
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Nephrocalcinosis, Renal tubular acidosis, Hypercalciuria OMIM:239199
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Nephrocalcinosis, Distal renal tubular acidosis, Metabolic acidosis, Hypercalciuria OMIM:602722
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Hypokalemic metabolic alkalos... OMIM:607364
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
3-Methylglutaconic aciduria, Apnea OMIM:615228
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Hypomagnesemia 2, Renal
Renal magnesium wasting, Renal insufficiency, Hypocalciuria OMIM:154020
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Respiratory insufficiency due to muscle weakness, Lactic acidosis... ORPHA:436271
Idiopathic Hypercalciuria
Renal calcium wasting, Hypercalciuria, Parathormone-independent increased renal tubular calcium r... ORPHA:2197
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Elevated... OMIM:220150
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis OMIM:612287
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... ORPHA:3002
Hypercalcemia, Infantile, 2
Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis OMIM:616963
Renal Hypoplasia, Bilateral
Neonatal respiratory distress, Proteinuria, Chronic kidney disease, Renal hypoplasia, Renal cyst,... ORPHA:97362
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Malignant Hyperthermia Of Anesthesia
Hypercapnia, Tachypnea, Metabolic acidosis, Myoglobinuria, Acute kidney injury ORPHA:423
Factor Xiii, B Subunit, Deficiency Of
Abnormal bleeding, Prolonged bleeding after surgery, Ecchymosis, Bruising susceptibility, Abnorma... OMIM:613235
Bleeding Disorder, Platelet-Type, 8
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Ecchymosis, Bruising susceptibili... OMIM:609821
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Warfarin-induced skin necrosis, Pulmonary embolism OMIM:612336
Pyruvate Carboxylase Deficiency
Increased serum lactate, Lactic acidosis, Proximal renal tubular acidosis OMIM:266150
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Fetal And Neonatal Alloimmune Thrombocytopenia
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Hematur... ORPHA:853
Evans Syndrome
Epistaxis, Dyspnea, Jaundice, Syncope, Pallor, Bruising susceptibility, Petechiae ORPHA:1959
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypokalemic metabolic alkalosis, Polyuria, Renal salt wasting, Elevated serum bicarbonate concent... OMIM:612780
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Hyper-Beta-Alaninemia
Increased urinary taurine, Neonatal respiratory distress OMIM:237400
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Metabolic acidosis, Aminoaciduria, Glycosuria OMIM:616026
Familial Isolated Hyperparathyroidism
Nephrocalcinosis, Hypercalciuria, Renal insufficiency, Hyperphosphaturia ORPHA:99879
Hyperparathyroidism, Neonatal Severe
Hyperphosphaturia, Polyuria, Dyspnea, Tachypnea, Hypercalciuria, Aminoaciduria OMIM:239200
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Respiratory insufficiency due to muscle weakness, Nephrolithia... ORPHA:18
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... OMIM:620296
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Pulmonary embolism, Vitreous hemorrhage, Purpura OMIM:612304
Cutaneous Collagenous Vasculopathy
Prominent superficial blood vessels, Erythema, Diffuse telangiectasia, Bruising susceptibility, V... ORPHA:280779
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Increased serum lactate, Increased urine succinate level, Apnea, Metabolic acidosis OMIM:619048
3-Hydroxyisobutyric Aciduria
Ketoacidosis, Lactic acidosis, Aminoaciduria, Episodic ketoacidosis OMIM:236795
Hydroxykynureninuria
Metabolic acidosis, Renal tubular acidosis, Breathing dysregulation ORPHA:79155
Congenital Factor Xiii Deficiency
Epistaxis, Cerebral hemorrhage, Poor wound healing, Joint hemorrhage, Prolonged bleeding after su... ORPHA:331
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hypercalciuria, Generalized aminoaciduria, Nephrocalcinosis, Renal tubular aci... ORPHA:2088
Fructose-1,6-Bisphosphatase Deficiency
Increased urinary glycerol, Apnea, Dyspnea, Metabolic acidosis, Hyperventilation OMIM:229700
Hsd10 Disease, Neonatal Type
Metabolic acidosis, Lactic acidosis, Abnormal concentration of acylcarnitine in the urine ORPHA:391457
Dent Disease 2
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... OMIM:300555
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Increased serum lactate, Alaninuria, Metabolic acidosis OMIM:615158
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged... ORPHA:849
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalciuria, Hypocalciuria, Nephrolithiasis OMIM:145980
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apnea, Hypercapnia, Increased serum lactate, Respiratory insufficiency, Apneic episodes in infancy OMIM:618222
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... ORPHA:1652
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... OMIM:248250
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis OMIM:614158
Systemic Capillary Leak Syndrome
Renal insufficiency, Abnormal renal tubule morphology, Oliguria, Cardiorespiratory arrest, Cough,... ORPHA:188
Leukodystrophy, Hypomyelinating, 4
Increased serum lactate, Apnea, Ethylmalonic aciduria OMIM:612233
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Cuti... ORPHA:91138
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypocalciuria, Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorp... OMIM:145981
Cardiogenic Shock
Increased pulmonary capillary wedge pressure, Crackles, Increased serum lactate, Dyspnea, Elevate... ORPHA:97292
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Metabolic acidosis, Glycosu... OMIM:613404
Bernard-Soulier Syndrome
Partially duplicated kidney, Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurre... ORPHA:274
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria, Acidosis OMIM:204730
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hyperte... OMIM:161950
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Angioedema, ... ORPHA:449285
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Stage 5 chronic kid... OMIM:619468
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Metabolic acidosis, Nephrocalcinosis, Distal renal tubular acidosis, Hyperchloremic ... OMIM:611590
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... OMIM:613225
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Chronic acidosis, Hypercalciuria, Generalized aminoaci... OMIM:227810
Dibasic Amino Aciduria I
Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria OMIM:222690
Pyruvate Dehydrogenase Phosphatase Deficiency
Increased serum lactate, Lactic acidosis, Lacticaciduria ORPHA:79246
Enamel-Renal Syndrome
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... ORPHA:1031
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Increased serum lactate, Renal hypoplasia, Renal cyst, Lactic acidosis, Rena... OMIM:614922
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Dicarboxylic aciduria, Sudden episodic apnea, Oliguria, Respiratory insufficiency, Hype... ORPHA:159
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Metabolic acidosis, Increased level of L-pyroglutamic acid in urine OMIM:231900
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... OMIM:613388
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hyperphosphaturia, Medullary nephrocalcinosis OMIM:613312
Acute Promyelocytic Leukemia
Abnormal bleeding, Epistaxis, Diffuse alveolar hemorrhage, Productive cough, Hematuria, Exertiona... ORPHA:520
Complement Component 4A Deficiency
Cutaneous photosensitivity, Vasculitis, Glomerulonephritis, Purpura OMIM:614380
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome... OMIM:619463
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Ketonuria, Apnea, Elevated urinary 3-methylcrotonylglycine level, Episodic ... OMIM:210200
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Renal tubular acidosis, Stress/infection-induced lactic acidosis, Organic aciduria, Aspiration pn... ORPHA:431361
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Ecchymosis, Bruising susceptibility, Epistaxis OMIM:614009
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Increased serum lactate, Neonatal respiratory distress OMIM:619062
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated lactate:pyruvate ratio, Elevated urinary 4-hydroxybutyric acid, Neonatal respiratory dis... OMIM:619003
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
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... ORPHA:411629
Hyperprolinemia, Type Ii
Hydroxyprolinuria, Hyperglycinuria, Prolinuria OMIM:239510
Cystinuria
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... OMIM:220100
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Menorrhagia, Ecchymosis, Bruising susceptibility OMIM:614201
Carbamoyl-Phosphate Synthetase 1 Deficiency
Hyperammonemia, Aminoaciduria, Respiratory insufficiency ORPHA:147
Purpura Simplex
Bruising susceptibility, Menorrhagia, Epistaxis, Purpura OMIM:179000
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... OMIM:273800
Iminoglycinuria
Hydroxyprolinuria, Hyperglycinuria, Prolinuria OMIM:242600
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Cholecystitis, Ecchymosis, Internal hemo... ORPHA:99827
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Cardiorespiratory arre... ORPHA:99828
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Lactic acidosis, Increased serum lactate, Organic aciduria OMIM:614741
Primary Fanconi Renotubular Syndrome
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... ORPHA:3337
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypercalciuria, Hyperphosphaturia, Medullary nephrocalcinosis, Nephrolithiasis ORPHA:157215
Ventilator-Induced Diaphragmatic Dysfunction
Hypercapnia, Respiratory insufficiency due to muscle weakness, Reduced forced vital capacity, Red... ORPHA:505395
Hypercalcemia, Infantile, 1
Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalcinosis OMIM:143880
Gitelman Syndrome
Hypokalemic alkalosis, Polyuria, Renal magnesium wasting, Enuresis, Hypocalciuria, Nocturia, Rena... OMIM:263800
Saccharopinuria
Citrullinuria, Hyperlysinuria, Histidinuria, Saccharopinuria OMIM:268700
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... OMIM:600740
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Renal Tubular Dysgenesis
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Respiratory insufficiency OMIM:267430
Pseudo-Torch Syndrome 2
Hepatomegaly, Acute respiratory distress syndrome, Cerebral hemorrhage, Patent ductus arteriosus,... OMIM:617397
Helix Syndrome
Nephrolithiasis, Renal insufficiency, Hypocalciuria, Polyuria OMIM:617671
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Increased serum lactate, Proximal renal tubular acidosis, Lactic acidosis, Metabolic acidosis, Co... OMIM:615824
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Epistaxis, Splenomegaly, Bruising susceptibility, Petechiae OMIM:314050
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney diseas... OMIM:613496
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... OMIM:263000
Thrombocytopenia 5
Bruising susceptibility, Epistaxis, Petechiae OMIM:616216
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Ethylmalonic aciduria, Petechiae OMIM:602473
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Warfarin-induced skin necrosis, Pulmonary embolism OMIM:176860
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulo... ORPHA:340
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Renal Tubular Acidosis Iii
Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Colchicine Poisoning
Respiratory distress, Renal insufficiency, Abnormality of acid-base homeostasis, Oliguria, Cardio... ORPHA:31824
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... ORPHA:70589
Mitochondrial Complex I Deficiency, Nuclear Type 14
Increased serum lactate, Lactic acidosis, Apnea OMIM:618236
Epidermolysis Bullosa Simplex 5A, Ogna Type
Skin fragility with non-scarring blistering, Bruising susceptibility OMIM:131950
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Central Hypoventilation Syndrome, Congenital, 1
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilation OMIM:209880
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti... ORPHA:2302
Aneurysm Of Sinus Of Valsalva
Dyspnea, Oliguria, Cough ORPHA:1054
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Desquamative interstit... OMIM:265120
Hereditary Amyloidosis With Primary Renal Involvement
Tubulointerstitial nephritis, Nephropathy, Decreased glomerular filtration rate, Tubulointerstiti... ORPHA:85450
Bernard-Soulier Syndrome
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... OMIM:231200
Lassa Fever
Dyspnea, Oliguria, Cough ORPHA:99824
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri... ORPHA:99845
Threoninemia
Hyperthreoninuria OMIM:273770
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Respiratory insufficiency due to muscle weakness, Lactic acidosis, Organic aciduria OMIM:617184
Sepsis In Premature Infants
Abnormal bleeding, Hepatomegaly, Tachycardia, Cyanosis, Abnormal mucociliary clearance, Dyspnea, ... ORPHA:90051
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy, 2-ethylhydracylic aciduria OMIM:610006
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis, Low-output congestive heart failure, Myopathy, Hypertrophic cardi... ORPHA:91130
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Metabolic acidosis, Beta 2-microglobulinuria, Renal cortical hyper... OMIM:611555
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Dicarboxylic aciduria, Hyperammonemia OMIM:255120
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Renal salt wasting OMIM:201710
Acute Monoblastic/Monocytic Leukemia
Oliguria, Exertional dyspnea ORPHA:514
Iminoglycinuria
Hydroxyprolinuria, Hyperglycinuria, Prolinuria ORPHA:42062
Acquired Purpura Fulminans
Shock, Pyoderma gangrenosum, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura... ORPHA:49566
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... ORPHA:94088
Diffuse Cutaneous Systemic Sclerosis
Dyspnea, Renal insufficiency, Pulmonary arterial hypertension, Oliguria ORPHA:220393
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... OMIM:187900
Mitochondrial Complex I Deficiency, Nuclear Type 6
Apnea, Increased serum lactate, Respiratory insufficiency, Lactic acidosis, Metabolic acidosis, S... OMIM:618228
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Vasculitis, Respiratory insufficiency, Hematuri... ORPHA:375
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:613642
Carnosinemia
Carnosinuria OMIM:212200
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Ketonuria, Apnea, Renal steatosis, Lactic acidosis OMIM:261680
Hydroxylysinuria
Hyperlysinuria OMIM:236900
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Bruising susceptibility, Persistent bleeding after trauma, Epistaxis, Petechiae OMIM:300367
Prolidase Deficiency
Hepatomegaly, Chronic lung disease, Hyperimidodipeptiduria, Splenomegaly, Asthma, Recurrent pneum... OMIM:170100
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Elevated urinary 3-hydroxybutyric acid, Tachypnea, Ketonuria, Episodic ketoacidosis OMIM:245050
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Familial Hypoaldosteronism
Decreased urinary potassium, Metabolic acidosis, Proximal renal tubular acidosis, Renal salt wasting ORPHA:427
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... OMIM:146255
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... OMIM:613679
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Increased serum lactate, Metabolic acidosis, Apnea, Respiratory insufficiency OMIM:617290
Joubert Syndrome 9
Stage 5 chronic kidney disease, Apnea, Episodic tachypnea OMIM:612285
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Gracile Syndrome
Aminoaciduria, Chronic lactic acidosis OMIM:603358
Coenzyme Q10 Deficiency, Primary, 3
Increased serum lactate, Nephrotic syndrome, Proteinuria OMIM:614652
Camptodactyly 1
Increased urinary taurine OMIM:114200
Ethylmalonic Encephalopathy
Acrocyanosis, Ethylmalonic aciduria, Petechiae ORPHA:51188
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia ORPHA:89937
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Striae distensae, Bruising susceptibility, Petechiae OMIM:225310
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Cyanosis, Congestive heart failure, ... ORPHA:2414
Hypokalemic Tubulopathy And Deafness
Acidosis, Renal salt wasting OMIM:619406
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Metabolic acidosis, Renal tubular atroph... OMIM:208085
Gracile Syndrome
Lactic acidosis, Renal Fanconi syndrome ORPHA:53693
Leukocyte Adhesion Deficiency, Type Iii
Abnormal bleeding, Hepatomegaly, Epistaxis, Splenomegaly, Hepatosplenomegaly, Petechiae OMIM:612840
Mitochondrial Complex I Deficiency, Nuclear Type 26
Elevated lactate:pyruvate ratio, Increased serum lactate, Lacticaciduria, Respiratory insufficien... OMIM:618247
Drug-Induced Lupus Erythematosus
Pericarditis, Dyspnea, Hematuria, Prolonged QTc interval, Petechiae ORPHA:231111
Hyperaldosteronism, Familial, Type Iii
Metabolic acidosis, Hypercalciuria, Polyuria OMIM:613677
Stuve-Wiedemann Syndrome 2
Respiratory distress, Congestive heart failure, Death in adolescence, Stillbirth, Camptodactyly, ... OMIM:619751
Cutaneous Small Vessel Vasculitis
Cutis marmorata, Erythema, Vasculitis, Urticaria, Purpura ORPHA:889
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Proteinuria, Polyuria, Renal salt wasting, Increased serum lactate, Chronic kidney disease, Hypoc... OMIM:613845
Camptodactyly-Taurinuria Syndrome
Increased urinary taurine, Aminoaciduria ORPHA:1325
Fructose Intolerance, Hereditary
Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype... OMIM:229600
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Lactic acidosis, Aminoaciduria, Proximal tubulopathy, Severe lactic acidosis OMIM:612075
Perching Syndrome
Respiratory distress, Joint contracture, Cyanosis, Camptodactyly OMIM:617055
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Afibrinogenemia, Congenital
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture... OMIM:202400
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolit... ORPHA:405
Meningococcal Meningitis
Shock, Renal insufficiency, Neonatal respiratory distress, Hypotension, Petechiae, Purpura ORPHA:33475
Plasma Clot Retraction Factor, Deficiency Of
Gastrointestinal hemorrhage, Bruising susceptibility, Poor wound healing OMIM:262800
Phosphohydroxylysinuria
Phosphohydroxylysinuria OMIM:615011
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Hypospadias, Increased serum lactate, Bronchiectasis, Respiratory insufficiency, Hyperammo... OMIM:618253
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Renal insufficiency, Renal agenesis, Stag... OMIM:615993
Carnitine Palmitoyl Transferase 1A Deficiency
Renal tubular acidosis ORPHA:156
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Orthostatic Hypotensive Disorder, Streeten Type
Orthostatic hypotension, Syncope, Bruising susceptibility, Facial erythema OMIM:143850
Glycogen Storage Disease Xi
Increased serum lactate, Myoglobinuria, Renal insufficiency OMIM:612933
Propionic Acidemia
Increased level of hippuric acid in urine, Apnea, Tachypnea, Hyperglycinuria, Hyperammonemia, Lac... OMIM:606054
Phenylketonuria
Aminoaciduria ORPHA:716
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cyanosis, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal... ORPHA:70587
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis OMIM:222730
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency, Neonatal respiratory distress, Severe lactic acidosis ORPHA:254857
Kearns-Sayre Syndrome
Lactic acidosis, Renal tubular acidosis, Renal Fanconi syndrome OMIM:530000
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Metabolic acidosis, Ethylmalonic aciduria, Increased level of methylsuccini... ORPHA:26792
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Purpura, Warfarin-induced skin necrosis, Pulmonary embolism ORPHA:745
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... ORPHA:1303
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Proteinuria, Dyspnea, Increased DLCO, Elevate... ORPHA:90060
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Cough, Acrocyanosis, Gl... ORPHA:183
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Microscopic Polyangiitis
Glomerulopathy, Renal insufficiency, Sinusitis, Epistaxis, Oliguria, Hematuria ORPHA:727
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... OMIM:248190
Juvenile Nephropathic Cystinosis
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... ORPHA:411634
Joubert Syndrome 7
Central apnea, Episodic tachypnea, Tachypnea, Stage 5 chronic kidney disease, Renal cyst, Nephron... OMIM:611560
Congenital Fibrinogen Deficiency
Abnormal bleeding, Decreased testicular size, Tachycardia, Cyanosis, Splenic rupture, Abnormal um... ORPHA:335
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Diaminopentanuria
Hyperlysinuria, Cystinuria OMIM:222350
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Decreased DLCO, Emphysema... OMIM:618913
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Purpura, Skin ulcer, Subcutaneous hemorrhage, Pulmonary embolism ORPHA:743
Hawkinsinuria
Metabolic acidosis, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria ORPHA:2118
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Increased serum lactate, Respiratory failure, Apnea OMIM:616277
Wiskott-Aldrich Syndrome
Sinusitis, Intracranial hemorrhage, Nephropathy, Internal hemorrhage, Prolonged bleeding time, Gl... ORPHA:906
Lujo Hemorrhagic Fever
Respiratory distress, Renal insufficiency, Crackles, Nonproductive cough, Oliguria, Metabolic aci... ORPHA:319213
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypercalciuria OMIM:242050
Lipoyltransferase 1 Deficiency
Increased serum lactate, Lacticaciduria, Lactic acidosis, Alaninuria, Pulmonary arterial hyperten... OMIM:616299
Boutonneuse Fever
Renal insufficiency, Vasculitis, Petechiae, Respiratory failure ORPHA:83313
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Increased serum lactate, Lacticaciduria, Metabolic acidosis, Respiratory fai... OMIM:619386
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Epistaxis, Splenomegaly, Menorrhagia, Gingival bleeding, Ecchymosis, Bruising susceptibility, Pro... OMIM:153670
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Hematuria, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Intramu... ORPHA:79
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Metabolic acidosis, Respiratory failure, Abnormal blood gas level,... ORPHA:70578
Pulmonary Arteriovenous Malformation
Abnormal bleeding, Cyanosis, Transient ischemic attack, Epistaxis, Myocardial infarction, Liver a... ORPHA:2038
Combined Oxidative Phosphorylation Deficiency 9
Elevated lactate:pyruvate ratio, Increased serum lactate, Dyspnea, Ketoacidosis, Metabolic acidos... OMIM:614582
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Primary Myelofibrosis
Abnormal bleeding, Hepatomegaly, Portal hypertension, Splenomegaly, Hepatosplenomegaly, Pallor, E... ORPHA:824
Leigh Syndrome
Increased serum lactate, Ketoacidosis, Lacticaciduria, Methylmalonic aciduria, Generalized aminoa... ORPHA:506
Malignant Hyperthermia, Susceptibility To, 4
Acidosis OMIM:600467
Methionine Malabsorption Syndrome
Aminoaciduria, Tachypnea OMIM:250900
Cataract-Nephropathy-Encephalopathy Syndrome
Renal tubular dysfunction ORPHA:1380
Primary Release Disorder Of Platelets
Abnormal bleeding, Spontaneous, recurrent epistaxis, Bruising susceptibility, Menorrhagia OMIM:176630
Mitochondrial Complex I Deficiency, Nuclear Type 4
Increased serum lactate, Apnea, Metabolic acidosis OMIM:618225
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Portal vein thrombosis, Miscarriage, Pulmonary embolism ORPHA:82
Malignant Hyperthermia, Susceptibility To, 5
Hypercapnia OMIM:601887
Pseudo-Torch Syndrome 3
Acute kidney injury, Apnea, Respiratory insufficiency, Proteinuria OMIM:618886
Tufted Angioma
Petechiae, Purpura ORPHA:1063
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Mesangial hypercellularity, Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Cresc... OMIM:616414
Hyperglycinuria
Hyperglycinuria, Calcium oxalate nephrolithiasis OMIM:138500
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic aciduria, Ketoacidosis, Methylmalonic... ORPHA:289504
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology... ORPHA:50251
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Ureteral stenosis, Apnea, Cyanosis, Asthma, Tachypnea, Pneumothora... ORPHA:2257
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria OMIM:268315
Metaphyseal Chondrodysplasia, Jansen Type
Nephrocalcinosis, Hyperphosphaturia, Hypercalciuria OMIM:156400
Bleeding Disorder, Platelet-Type, 16
Abnormal bleeding, Petechiae OMIM:187800
Heparin-Induced Thrombocytopenia
Abnormal onset of bleeding, Cerebral ischemia, Myocardial infarction, Pulmonary embolism ORPHA:3325
Slc35A1-Cdg
Abnormal bleeding, Prolonged bleeding time, Respiratory distress, Pneumonia, Hypoxemia, Subcutane... ORPHA:238459
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Mitochondrial Complex I Deficiency, Nuclear Type 13
Metabolic acidosis, Acidosis, Apnea OMIM:618235
Mitochondrial Complex I Deficiency, Nuclear Type 24
Increased serum lactate OMIM:618245
High Altitude Pulmonary Edema
Orthopnea, Tachycardia, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema ORPHA:330012
Cystinosis, Nephropathic
Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Ne... OMIM:219800
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Vasculitis, Urticaria, Nephrotic syndrom... OMIM:603909
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Splenomegaly, Vasculitis, Erythema, Cardiomyopathy, Prolonged neonatal jaundice, Ac... OMIM:225750
Intellectual Developmental Disorder, Autosomal Recessive 1
Increased serum lactate OMIM:249500
Congenital Heart Block
Cyanosis, First degree atrioventricular block, Gallop rhythm, Crackles, Congestive heart failure,... ORPHA:60041
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Cardiac arrest, Splenomegal... ORPHA:77260
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Respiratory failure, Respiratory insufficiency OMIM:611722
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R... OMIM:300554
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Increased urinary glycerol, Intermittent hyperventilation, Episodic tachypn... ORPHA:348
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting OMIM:193100
D-2-Hydroxyglutaric Aciduria 1
Glutaric aciduria, D-2-hydroxyglutaric aciduria, Apnea, Inspiratory stridor OMIM:600721
Oncogenic Osteomalacia
Renal phosphate wasting, Hyperphosphaturia ORPHA:352540
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatomegaly, Apnea, Splenomegaly, Hepatosplenomegaly, Pulmonary hypoplasia... OMIM:608013
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Petechiae, Splenomegaly, Jaundice, Cholestatic liver disease, Ecchymosis, Bruising ... ORPHA:540
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea, Elevated circulating creatinine concentration, Hypoxemia, Respiratory failure, Pleural... ORPHA:542323
Cholera
Abnormality of renal excretion, Tachypnea, Lactic acidosis, Decreased urine output, Aspiration pn... ORPHA:173
Roch-Leri Mesosomatous Lipomatosis
Purpura ORPHA:529
Riboflavin Deficiency
Metabolic acidosis, Lactic acidosis, Dicarboxylic aciduria OMIM:615026
Sea-Blue Histiocytosis
Abnormal bleeding, Hepatomegaly, Petechiae, Splenomegaly ORPHA:158029
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum lactate, Chronic lactic acidosis, Lactic acidosis, Apneic episodes precipitated b... OMIM:312170
Mitochondrial Complex I Deficiency, Nuclear Type 5
Apnea, Increased serum lactate, Respiratory insufficiency, Lactic acidosis, Metabolic acidosis OMIM:618226
Monocarboxylate Transporter 1 Deficiency
Ketoacidosis, Ketonuria OMIM:616095
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Homocarnosinosis
Carnosinuria OMIM:236130
Griscelli Syndrome Type 2
Hepatomegaly, Splenomegaly, Jaundice, Premature graying of hair, Petechiae ORPHA:79477
Combined Malonic And Methylmalonic Aciduria
Ketoacidosis, Methylmalonic aciduria OMIM:614265
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased serum lactate, Lacticaciduria OMIM:619063
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Skeletal muscle atrophy, Facial palsy, Triceps weakn... ORPHA:98913
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:254210
Type 1 Diabetes Mellitus
Ketoacidosis, Polyuria OMIM:222100
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Increased serum lactate, Myoglobinuria, Renal insufficiency ORPHA:2364
Pseudo-Torch Syndrome 1
Hepatomegaly, Renal insufficiency, Splenomegaly, Patent ductus arteriosus, Jaundice, Petechiae OMIM:251290
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria ORPHA:2278
Homozygous 11P15-P14 Deletion Syndrome
Renal tubular dysfunction, Generalized aminoaciduria OMIM:606528
Hydroxykynureninuria
Aminoaciduria OMIM:236800
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Neonatal respiratory distress, Ketonuria, Increased serum lactate, Renal hypoplasia, Metabolic ac... OMIM:619053
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... OMIM:277450
Thrombocytopenia 2
Bruising susceptibility OMIM:188000
Fibrinolytic Defect
Spontaneous hematomas OMIM:134900
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Apnea OMIM:610992
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Respiratory alkalosis, Ketonuria, Increased serum lactate... OMIM:615751
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... ORPHA:99106
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Renal insufficiency, Epistaxis, Hematochezia, Cardiomyopathy, Restrictiv... OMIM:203300
Ethylene Glycol Poisoning
Renal insufficiency, Cyanosis, Tachypnea, Episodic respiratory distress, Renal tubular epithelial... ORPHA:31826
Schimmelpenning-Feuerstein-Mims Syndrome
Hyperphosphaturia, Horseshoe kidney OMIM:163200
Hatipoglu Immunodeficiency Syndrome
Hypospadias, Petechiae, Poor wound healing, Cryptorchidism, Asthma, Premature graying of hair, Dr... OMIM:620331
Complete Atrioventricular Septal Defect
Crackles, Tachypnea, Atrioventricular block, Abnormal EKG, Hepatomegaly, Intercostal retractions,... ORPHA:1329
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated car... OMIM:300580
Familial Hyperaldosteronism Type Iii
Metabolic alkalosis, Hypercalciuria, Epistaxis ORPHA:251274
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Hepatomegaly, Facial palsy, Petechiae OMIM:611490
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility OMIM:614200
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Micropenis, Hypospadias, Hypercalciuria OMIM:614732
Complement Component 2 Deficiency
Purpura OMIM:217000
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pancreatic cysts, Dyspnea, Abnormal lung morph... ORPHA:464329
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Cough, Renal interst... ORPHA:93126
5-Oxoprolinase Deficiency
Increased level of L-pyroglutamic acid in urine, Prolinuria, Calcium oxalate nephrolithiasis OMIM:260005
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Renal Fanconi syndrome, Proteinuria, Metabolic ketoacidosis ORPHA:263455
Holocarboxylase Synthetase Deficiency
Tachypnea, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Organic aciduria, Elevated urinar... OMIM:253270
Mirage Syndrome
Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Intrac... OMIM:617053
Antithrombin Iii Deficiency
Arterial occlusion, Pulmonary embolism OMIM:613118
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Apnea, Renal cyst OMIM:614883
Developmental And Epileptic Encephalopathy 50
Renal tubular acidosis, Oroticaciduria, Hyperammonemia OMIM:616457
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Right ventricular failure, Pulmonary capi... ORPHA:199241
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Acute Interstitial Pneumonia
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackle... ORPHA:79126
Vici Syndrome
Renal tubular acidosis, Ureteral atresia ORPHA:1493
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... ORPHA:99103
Succinic Acidemia
Respiratory distress, Lactic acidosis OMIM:600335
Bleeding Disorder In Hemophilia A Carriers
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolonged bleed... ORPHA:177926
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Alpha-aminoadipic aciduria, Increased serum la... OMIM:605711
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Hypercalciuria, Nephrolithiasis, Decreased glomerular filtration rate OMIM:601198
Malonyl-Coa Decarboxylase Deficiency
Neonatal respiratory distress, Methylmalonic aciduria, Lactic acidosis, Metabolic acidosis, Eleva... OMIM:248360
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... OMIM:164310
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent pneumonia, Recurrent upper... ORPHA:60032
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hypospadias, Increased serum lactate, Hyperammonemia, Lactic acidosis, Renal tubular acidosis OMIM:615471
Simple Cryoglobulinemia
Myocardial infarction, Mesangial hypercellularity, Abnormal lung morphology, Acral ulceration, Ne... ORPHA:91139
Hyperprolinemia, Type I
Hydroxyprolinuria, Hyperglycinuria, Prolinuria OMIM:239500
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Combined Oxidative Phosphorylation Deficiency 44
Increased serum lactate OMIM:618855
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria, Abnormal pattern of respiration ORPHA:833
Pontocerebellar Hypoplasia Type 4
Central apnea, Respiratory failure requiring assisted ventilation ORPHA:166063
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Apnea, Hypercalciuria, Nephrocalcinosis, Phosphoethanolaminuria OMIM:241500
Biotinidase Deficiency
Apnea, Metabolic ketoacidosis, Tachypnea, Hyperammonemia, Organic aciduria OMIM:253260
Bartter Syndrome, Type 5, Antenatal, Transient
Hypercalciuria, Medullary nephrocalcinosis, Polyuria OMIM:300971
Pontocerebellar Hypoplasia, Type 16
Recurrent urinary tract infections, Apnea OMIM:619527
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Cardiorespiratory arrest, Stridor, Bronchospasm, Partial development of the penile shaft, ... OMIM:608800
Cryofibrinogenemia, Familial Primary
Hematuria, Acrocyanosis, Transient nephrotic syndrome OMIM:123540
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Dy... ORPHA:86812
Acute Lung Injury
Shock, Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea,... ORPHA:178320
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Abnormal lef... ORPHA:45452
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Renal magnesium wasting, Nephrocalcinosis, Polyuria, Renal potassium wasting OMIM:618314
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Peritonitis, Vasculitis, Erythema, Urticaria, Acrocyan... ORPHA:343
Factor Vii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Intramuscular hematoma, ... OMIM:227500
Sengers Syndrome
Increased serum lactate, Respiratory insufficiency, Lactic acidosis, 3-Methylglutaconic aciduria,... OMIM:212350
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Respiratory failure requiring assisted ventilation, Death in infancy, Nemaline bodies, Increased ... OMIM:620265
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Increased serum lactate, Enuresis, Renal Fanconi syndrome, Organi... OMIM:619743
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased serum lactate, Restrictive ventilatory defect ORPHA:457050
Congenital Sialidosis Type 2
Abnormal EKG, Hepatomegaly, Abnormality of the kidney, Respiratory tract infection, Telangiectasi... ORPHA:93400
Exercise-Induced Malignant Hyperthermia
Crackles, Tachypnea, Oliguria, Lactic acidosis, Hypocapnia, Acute kidney injury ORPHA:466650
Primary Hyperoxaluria
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... ORPHA:416
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Increased serum lactate, Respiratory insufficiency ORPHA:238329
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Apnea, Hydronephrosis OMIM:619797
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Pulmona... ORPHA:567548
Bacterial Toxic-Shock Syndrome
Shock, Respiratory distress, Renal insufficiency, Recurrent urinary tract infections, Tachycardia... ORPHA:36234
Acquired Methemoglobinemia
Respiratory distress, Tachycardia, Cyanosis, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine, Chronic metabolic acidosis OMIM:266130
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Abnormal capillary physiology, Erythema, Angioedema, Upper airway obstructi... ORPHA:100057
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Poor wound healing, Nephrolithiasis, Facial erythema, Hypertension, Ecch... OMIM:219090
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, P... ORPHA:1302
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Elevated urinary formiminoglutamic acid level OMIM:229100
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Mitochondrial Complex I Deficiency, Nuclear Type 29
Elevated lactate:pyruvate ratio, Increased serum lactate, Dyspnea, Lacticaciduria, Stage 5 chroni... OMIM:618250
Neuralgic Amyotrophy
Scapular winging, Acrocyanosis, Respiratory insufficiency ORPHA:2901
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi... ORPHA:264675
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Respiratory insufficiency due to muscle weakness, Lactic acidosis, Aminoaciduria OMIM:609560
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Hepatomegaly, Myositis, Myoca... ORPHA:809
Severe Neonatal-Onset Encephalopathy With Microcephaly
Apnea, Respiratory insufficiency ORPHA:209370
3-Methylglutaconic Aciduria Type 9
Increased serum lactate, 3-Methylglutaconic aciduria, Urinary incontinence ORPHA:505216
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... ORPHA:99104
Joubert Syndrome 3
Central apnea, Episodic tachypnea, Stage 5 chronic kidney disease, Nephronophthisis, Neonatal bre... OMIM:608629
Mitochondrial Complex I Deficiency, Nuclear Type 34
Metabolic acidosis, Respiratory failure requiring assisted ventilation, Lactic acidosis OMIM:618776
Ehlers-Danlos Syndrome, Classic Type, 2
Bruising susceptibility, Fragile skin, Recurrent sinusitis OMIM:130010
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria, Apnea ORPHA:79644
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Recurrent upper respiratory tract infectio... OMIM:614075
Coach Syndrome 2
Hyperechogenic kidneys, Apneic episodes in infancy, Elevated circulating creatinine concentration OMIM:619111
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... OMIM:602088
Stimmler Syndrome
Aminoaciduria ORPHA:3199
Argininemia
Diaminoaciduria, Hyperammonemia ORPHA:90
Galactosemia Iii
Aminoaciduria, Galactosuria OMIM:230350
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... OMIM:619773
Infection-Related Hemolytic Uremic Syndrome
Anuria, Pneumonia, Dyspnea, Oliguria, Pleural empyema, Acute kidney injury, Nephrotic range prote... ORPHA:544482
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Tachycardia, Cyanosis, Cardiac shunt, Congestive heart failure, Patent ductus arter... ORPHA:860
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Poor wound h... ORPHA:169802
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Hyperlysinuria With Hyperammonemia
Dibasicaminoaciduria, Hyperlysinuria, Hyperammonemia OMIM:238750
Moderate Hemophilia A
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Hip contracture, Prolonged b... ORPHA:169805
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Subcutaneous hemorrhage ORPHA:1980
Wilson Disease
Hyperphosphaturia, Proteinuria, Nephrolithiasis, Hypercalciuria, Renal tubular dysfunction, Amino... OMIM:277900
Methylmalonyl-Coa Epimerase Deficiency
Metabolic acidosis, Ketonuria, Methylmalonic aciduria OMIM:251120
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypercalciuria ORPHA:2239
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Hematuria, Oral cavity bleeding,... ORPHA:324636
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Respiratory failure, Apnea OMIM:618414
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Calcium nephrolithiasis, Renal tubular dysfunction, Hypercalciuria OMIM:241530
Myasthenic Syndrome, Congenital, 16
Apnea OMIM:614198
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Renal magnesium wasting, Nephrocalcinosis, Renal potassium wasting ORPHA:564178
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Multiple Mitochondrial Dysfunctions Syndrome 3
Elevated lactate:pyruvate ratio, Respiratory insufficiency, Lactic acidosis, Metabolic acidosis, ... OMIM:615330
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Meconium Aspiration Syndrome
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Abnormal heart rate... ORPHA:70588
Thrombocytopenia 1
Bruising susceptibility, Joint hemorrhage, Epistaxis, Petechiae OMIM:313900
Gray Platelet Syndrome
Abnormal bleeding, Splenomegaly, Bruising susceptibility, Epistaxis ORPHA:721
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... OMIM:178500
Thrombocytopenia 3
Epistaxis, Petechiae OMIM:273900
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Cyanosis, Abnormal atrioventricular conduction, Right ventricular failur... ORPHA:439
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Lactic acidosis, Renal tubular acidosis, Myoglobinuria ORPHA:79240
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Petechiae, Purpura OMIM:605432
Acute Liver Failure
Acute kidney injury, Abnormal respiratory system physiology, Alkalosis, Hyperammonemia, Hypocapni... ORPHA:90062
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proxima... OMIM:231680
Pontocerebellar Hypoplasia, Type 6
Increased serum lactate, Apnea OMIM:611523
Developmental And Epileptic Encephalopathy 90
Fetal pyelectasis, Apneic episodes in infancy OMIM:301058
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Ravine Syndrome
Apnea ORPHA:99852
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasis, Inspirator... ORPHA:79127
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Increased serum lactate OMIM:616209
Hyperglycinemia, Lactic Acidosis, And Seizures
Lactic acidosis, Increased serum lactate, Apnea, Respiratory insufficiency OMIM:614462
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Facial palsy, Camptodactyly of finger, Increased variability in muscle fibe... OMIM:614399
Gitelman Syndrome
Respiratory distress, Proteinuria, Urinary incontinence, Decreased urinary potassium, Metabolic a... ORPHA:358
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric... ORPHA:444013
Bleeding Disorder, Platelet-Type, 19
Abnormal bleeding, Spontaneous hematomas, Menorrhagia, Epistaxis OMIM:616176
Glutaric Acidemia Type 3
Ketoacidosis, Elevated circulating glutaric acid concentration, Glutaric aciduria, Ketonuria ORPHA:35706
Mitochondrial Complex I Deficiency, Nuclear Type 22
Elevated lactate:pyruvate ratio, Lactic acidosis, Respiratory insufficiency OMIM:618243
Mccune-Albright Syndrome
Renal phosphate wasting, Renal tubular dysfunction, Hyperphosphaturia ORPHA:562
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Cutis marmorata, Epistaxis, Conge... ORPHA:33226
Fucosidosis
Recurrent respiratory infections, Hepatomegaly, Angiokeratoma, Splenomegaly, Flexion contracture,... OMIM:230000
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Flexion contracture, Hypertension, Pulmonary hypoplasia, Abnormal renal cor... OMIM:616733
Bleeding Disorder, Platelet-Type, 20
Bruising susceptibility, Menorrhagia, Epistaxis OMIM:616913
Von Willebrand Disease, Type 2
Bruising susceptibility, Menorrhagia, Epistaxis OMIM:613554
Biotinidase Deficiency
Respiratory distress, Apnea, Metabolic ketoacidosis, Hyperammonemia, Organic aciduria, Hyperventi... ORPHA:79241
Glucose/Galactose Malabsorption
Metabolic acidosis, Glycosuria OMIM:606824
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Prolonged bleeding afte... OMIM:615888
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Renal insufficiency, Hypokalemic hypochloremic metabolic alkalosis, Polyuria, R... OMIM:613090
East Syndrome
Renal salt wasting, Metabolic alkalosis, Renal magnesium wasting, Enuresis, Abnormal urinary elec... ORPHA:199343
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ketoacidosis, Hyperammonemia, Lactic acidosis, Elevated serum anion gap, 3-Methylglutaconic aciduria OMIM:618120
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Lacticaciduria, Lactic acidosis, Stridor, Metabolic acidosis OMIM:615595
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Isovaleric Acidemia
Metabolic acidosis ORPHA:33
Immunoglobulin A Vasculitis
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Proteinuria, Orchitis, Angioede... ORPHA:761
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Hepatomegaly, Ragged-re... ORPHA:254864
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Congenital Fiber-Type Disproportion Myopathy
Hypercapnia, Respiratory insufficiency due to muscle weakness, Hypoxemia, Respiratory failure, As... ORPHA:2020
Developmental And Epileptic Encephalopathy 61
Apnea OMIM:617933
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated lactate:pyruvate ratio, Ketonuria, Metabolic ketoacidosis, Increased serum lactate, Keto... OMIM:615453
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria ORPHA:417
Combined Oxidative Phosphorylation Deficiency 28
Increased serum lactate, Respiratory failure, Severe lactic acidosis OMIM:616794
Congenital Myopathy 13
Hypoxemia, Restrictive ventilatory defect, Hypercapnia OMIM:255995
Panbronchiolitis, Diffuse
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough OMIM:604809
Immunodeficiency 81
Petechiae OMIM:619374
Fatal Familial Insomnia
Urinary retention, Apnea OMIM:600072
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Intraalveolar phosp... OMIM:610910
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Lactic acidosis, Renal tubular acidosis, Myoglobinuria ORPHA:264580
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Respiratory ... ORPHA:79138
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ... OMIM:309000
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Metabolic acidosis, Renal salt wasting OMIM:264350
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Renal insufficiency, Recurrent urinary tract infections, Spontaneous pneumothora... ORPHA:731
Hawkinsinuria
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Metabolic acid... OMIM:140350
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Apnea, Central hypoventilation, Respiratory insufficiency OMIM:300673
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
X-Linked Hypophosphatemia
Renal phosphate wasting, Hypocalciuria ORPHA:89936
Cystathioninuria
Cystathioninuria, Nephrolithiasis ORPHA:212
Hemochromatosis, Type 3
Cardiomyopathy, Cirrhosis, Purpura OMIM:604250
Galactosemia I
Metabolic acidosis, Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in ur... OMIM:230400
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Renal salt wasting OMIM:201910
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exert... ORPHA:60025
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Ragged-red ... OMIM:613561
Glutathionuria
Asthma, Urinary incontinence, Glutathionuria OMIM:231950
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Apneic episodes in infancy ORPHA:500545
Combined Oxidative Phosphorylation Deficiency 36
Increased serum lactate, Aciduria OMIM:617950
Myopathy And Diabetes Mellitus
Respiratory distress, Distal lower limb amyotrophy, Achilles tendon contracture, Proximal amyotro... ORPHA:2596
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Neonatal respiratory distress, Renal insufficiency, Apnea,... OMIM:608836
3-Methylglutaconic Aciduria, Type I
Metabolic acidosis, 3-Methylglutaconic aciduria, Urinary incontinence OMIM:250950
Combined Oxidative Phosphorylation Deficiency 6
Respiratory insufficiency due to muscle weakness, Increased serum lactate OMIM:300816
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Congestive heart failure, Nonprod... ORPHA:454836
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Dihydropyrimidinase Deficiency
Metabolic acidosis, Uraciluria OMIM:222748
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Cough, Decreased DLCO, ... OMIM:234810
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Cardiomyopathy, Dilated, 2C
Increased serum lactate, Pulmonary arterial hypertension OMIM:618189
3-Methylglutaconic Aciduria, Type Ix
Increased serum lactate, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Urinary incontin... OMIM:617698
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Metabolic acidosis, Myoglobinuria OMIM:602199
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag... ORPHA:98878
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Cerebral hemo... OMIM:619897
Absence Of The Pulmonary Artery
Nonproductive cough, Abnormal EKG, Patent ductus arteriosus, Bronchiectasis, Hypocapnia, Truncus ... ORPHA:980
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Skeletal muscle atrophy, Paradoxical respiration, Plantar flexion contractu... OMIM:620011
Granulomatosis With Polyangiitis
Sinusitis, Cough, Glomerulopathy, Ureteral stenosis, Vasculitis, Chronic pulmonary obstruction, R... ORPHA:900
Galactose Epimerase Deficiency
Aminoaciduria ORPHA:79238
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Lactic acidosis, Increased serum lactate, Increased urine alpha-ketoglutarate concentration OMIM:614458
Aortic Arch Interruption
Aortic regurgitation, Shock, Respiratory distress, Tricuspid regurgitation, Cyanosis, Blood press... ORPHA:2299
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Metabolic acidosis, Polyuria OMIM:620152
2P21 Microdeletion Syndrome
Lactic acidosis, Nephrolithiasis, Cystinuria ORPHA:163693
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate OMIM:616974
3-Methylglutaconic Aciduria Type 4
Lactic acidosis, 3-Methylglutaconic aciduria ORPHA:67048
Mitochondrial Complex I Deficiency, Nuclear Type 18
Lactic acidosis, Respiratory failure, Hydroureter, Hydronephrosis OMIM:618240
Mitochondrial Complex I Deficiency, Nuclear Type 3
Metabolic acidosis, Respiratory insufficiency OMIM:618224
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... ORPHA:730
Interstitial Lung And Liver Disease
Dyspnea, Respiratory insufficiency, Hyperammonemia, Hypoxemia, Lactic acidosis, Aminoaciduria, Cough OMIM:615486
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Anuria, Megacystis, Pyelonephritis, Elevated ... OMIM:619351
Buerger Disease
Acrocyanosis, Vasculitis, Skin ulcer ORPHA:36258
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Hyperphosphaturia, Abnormality of renal excretion ORPHA:289176
Isovaleric Acidemia
Ketoacidosis, Metabolic acidosis, Hyperglycinuria OMIM:243500
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory failure, Apnea, Respiratory insufficiency OMIM:610127
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Proteinuria, Increased serum lactate, Hemolytic-uremic syndrome, Elevated c... OMIM:274150
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts ORPHA:3033
Staphylococcal Necrotizing Pneumonia
Shock, Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Ac... ORPHA:36238
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction OMIM:137560
Tyrosinemia Type 1
Generalized aminoaciduria ORPHA:882
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypokalemic metabolic alkalosis, Abnormal renal tubular resorption, Hypercalciuria, Hyperprostagl... ORPHA:73224
Sulfite Oxidase Deficiency, Isolated
Metabolic acidosis, Sulfocysteinuria, Decreased urinary sulfate, Increased urinary sulfite level OMIM:272300
Combined Oxidative Phosphorylation Deficiency 16
Increased serum lactate OMIM:615395
Idiopathic Aplastic Anemia
Retinal hemorrhage, Ecchymosis, Epistaxis, Gingival bleeding ORPHA:88
Pearson Marrow-Pancreas Syndrome
Hypercalciuria, Lactic acidosis, Metabolic acidosis, 3-Methylglutaric aciduria, Renal Fanconi syn... OMIM:557000
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Increased urine alpha-ketoglutarate concentration, Increased serum lactate OMIM:619224
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... ORPHA:95430
Joubert Syndrome With Oculorenal Defect
Nephropathy, Renal insufficiency, Tachypnea, Apnea ORPHA:2318
Glanzmann Thrombasthenia 2
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... OMIM:619267
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hemolytic-uremic syndrome, Anuria, Elevated circulating creatinine concentration, Acute kidney in... OMIM:235400
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Epistaxis, Hematemesis, Recurrent upper respiratory tract infections, Re... OMIM:301000
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Purpura ORPHA:3204
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... ORPHA:2004
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Pulmonary embolism, Dyspnea, Chronic kidney di... ORPHA:447
Ehlers-Danlos Syndrome, Periodontal Type, 2
Prominent superficial veins, Gingival bleeding, Nephroblastoma, Bruising susceptibility, Fragile ... OMIM:617174
Joubert Syndrome With Renal Defect
Nephropathy, Renal insufficiency, Apnea, Abnormal pattern of respiration ORPHA:220497
Osteopetrosis With Renal Tubular Acidosis
Distal renal tubular acidosis, Proximal renal tubular acidosis, Nephrolithiasis, Metabolic acidos... ORPHA:2785
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Marburg Hemorrhagic Fever
Abnormal bleeding, Shock, Renal insufficiency, Tachycardia, Pericarditis, Excessive bleeding afte... ORPHA:99826
Tyrosinemia, Type I
Hypertyrosinemia, Renal insufficiency, Nephrocalcinosis, Metabolic acidosis, Renal Fanconi syndro... OMIM:276700
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Renal tubular dysfunction OMIM:307800
Malaria
Respiratory distress, Acute kidney injury ORPHA:673
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea, Prolonged prothrombin time, Hepatic hemangioma, Petechiae, Purpura ORPHA:2330
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Increased serum lactate OMIM:619196
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... OMIM:227400
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting OMIM:613743
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Skeletal muscle atrophy, Cerebral hemorrhage, Abnormality... OMIM:620278
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Hypospadias, Unilateral cryptorchidism, Centrally nucleat... OMIM:300219
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Alpha-2-Plasmin Inhibitor Deficiency
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax OMIM:262850
Hemophilia A
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Muscle hemorrhage OMIM:306700
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Renal salt wasting, Long penis, Elevated urinary epinephrine level, Hypernatriuria, Hyperkalemic ... ORPHA:90794
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate, Severe lactic acidosis OMIM:616111
Benign Familial Neonatal-Infantile Seizures
Apnea ORPHA:140927
3-Methylglutaconic Aciduria, Type Viii
Apnea, Increased serum lactate, Hypopnea, Respiratory failure, 3-Methylglutaric aciduria, 3-Methy... OMIM:617248
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Increased serum lactate, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic acid... OMIM:604273
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
2Q24 Microdeletion Syndrome
Central apnea ORPHA:1617
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Prolonged QRS complex, Apnea, Left axis deviation, Congestive hea... OMIM:261740
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Renal insufficiency, Renal tubular dysfunction, Hyperammonemia ORPHA:289916
Myoclonus, Intractable, Neonatal
Apnea OMIM:617235
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hypokalemic metabolic alkalosis, Polyuria, Renal salt wasting, Increased urinar... OMIM:601678
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Osteopetrosis, Autosomal Recessive 3
Distal renal tubular acidosis OMIM:259730
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure ORPHA:168486
Autosomal Dominant Hypocalcemia
Nephrocalcinosis, Hypercalciuria, Hypermagnesiuria, Abnormal pattern of respiration ORPHA:428
Myh9-Related Disease
Prolonged bleeding time, Renal insufficiency, Spontaneous, recurrent epistaxis, Proteinuria, Myoc... ORPHA:182050
Combined Oxidative Phosphorylation Deficiency 18
Increased serum lactate, Lactic acidosis, Methylmalonic aciduria OMIM:615578
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency... ORPHA:254875
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... ORPHA:93111
Apparent Mineralocorticoid Excess
Hypokalemic metabolic alkalosis, Renal insufficiency, Abnormal urine sodium concentration, Nephro... ORPHA:320
Bartter Syndrome Type 4
Hypokalemic metabolic alkalosis, Renal salt wasting, Increased urinary potassium, Impaired renal ... ORPHA:89938
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum lactate, Metabolic acidosis, Episodic tachypnea, Hyperammonemia OMIM:615160
Myasthenic Syndrome, Congenital, 24, Presynaptic
Apnea, Respiratory insufficiency OMIM:618198
Muscular Dystrophy, Cardiac Type
Carnosinuria OMIM:309930
Kanzaki Disease
Telangiectasia of the oral mucosa, Increased urinary O-linked sialopeptides, Lip telangiectasia, ... OMIM:609242
Livedoid Vasculopathy
Telangiectasia of the skin, Cutis marmorata, Poor wound healing, Skin ulcer, Hypertension, Ischem... ORPHA:542643
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... OMIM:187300
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Methylmalonic acidemia, Metabolic ketoacidosis, Stage 5 chronic kidney dise... OMIM:251000
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Bruising susceptibility, Myopathy, Arterial rupture ORPHA:300179
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hyperammonemia ORPHA:664
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Global glomerulosclerosis, Hypokalemic hypochloremic metabolic alkalosis, Renal... OMIM:602522
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Elevated lactate:pyruvate ratio, Neonatal respiratory distress, Lacticaciduria, Respiratory insuf... OMIM:245400
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Distal amyotrophy OMIM:619099
Blue Diaper Syndrome
Nephrocalcinosis, Blue urine, Metabolic acidosis ORPHA:94086
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hypocalciuria, Hypophosphaturia ORPHA:73223
Joubert Syndrome 33
Apnea OMIM:617767
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Supraventricular tachycardia, ... ORPHA:99105
Idiopathic Bronchiectasis
Myocardial infarction, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Produ... ORPHA:60033
3-Hydroxy-3-Methylglutaric Aciduria
Ketonuria, Apnea, Increased serum lactate, Tachypnea, Hyperammonemia, Metabolic acidosis, 3-Methy... ORPHA:20
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, Metabolic acidosis,... OMIM:246450
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape, Cyanosis, Respiratory insufficiency OMIM:610773
Bleeding Disorder, Platelet-Type, 22
Subcutaneous hemorrhage, Excessive bleeding from superficial cuts OMIM:618462
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Lactic acidosis, 3-Methylglutaconic aciduria, Hyperammonemia, Increased serum lactate OMIM:614739
Beta-Ketothiolase Deficiency
Ketonuria, Increased serum lactate, Ketoacidosis, Tachypnea, Hyperammonemia, Metabolic acidosis, ... ORPHA:134
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Hypernatriuria, Hyposthenuria OMIM:300539
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Cardiomyopathy, Familial Hypertrophic, 16
Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund... OMIM:613838
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Methylmalonic acidemia, Ketonuria, Elevated urine 3-hydroxypropionic acid l... OMIM:251100
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Elevated urin... OMIM:618384
Mitochondrial Dna-Associated Leigh Syndrome
Abnormal renal tubule morphology, Multiple glomerular cysts, Apnea, Increased serum lactate, Dysp... ORPHA:255210
Pneumocystosis
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... ORPHA:723
Pyruvate Dehydrogenase E3 Deficiency
Lactic acidosis, Increased serum lactate, Hyperammonemia, Increased urine alpha-ketoglutarate con... ORPHA:2394
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Cyanosis, Redundant neck skin, Congestive... ORPHA:3309
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac dea... OMIM:115197
Goodpasture Syndrome
Renal insufficiency, Cyanosis, Proteinuria, Glomerulonephritis, Cylindruria, Nodular pattern on p... OMIM:233450
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased serum lactate, Respiratory insufficiency, Lactic acidosis, Hematuria, Metabolic acidosi... OMIM:617021
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting OMIM:612089
Congenital Myopathy 11
Neonatal respiratory distress, Apneic episodes in infancy OMIM:619967
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Mitochondrial Complex I Deficiency, Nuclear Type 8
Increased serum lactate, Lactic acidosis, Respiratory insufficiency OMIM:618230
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Methylmalonic acidemia, Ketonuria, Methylmalonic aciduria, Hyperammonemia, ... OMIM:251110
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Hepatomegaly, Facial hy... ORPHA:308552
48,Xxyy Syndrome
Asthma, Hypoplasia of penis, Apnea ORPHA:10
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Methylmalonic acidemia, Increased serum lactate, Methylma... OMIM:614105
Q Fever
Respiratory distress, Hepatomegaly, Pericarditis, Pneumonia, Myocarditis, Splenomegaly, Vasculiti... ORPHA:781
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Hepatomegaly, Skeletal muscle atrophy, Portal hypertension, Congestive hear... ORPHA:367
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, L... OMIM:620067
Primary Hyperoxaluria Type 1
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... ORPHA:93598
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Left-to-right shunt, Cyanosis, Congestive heart failure, Patent... ORPHA:99050
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle... ORPHA:1143
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Myocardial infarction, Abnormality of the ... OMIM:155100
Hypotonia-Cystinuria Syndrome
Increased serum lactate, Nephrolithiasis, Cystinuria, Lactic acidosis, Cystine crystalluria OMIM:606407
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Apnea, Hyperammonemia OMIM:610015
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Apnea, Polycystic kidney dysplasia OMIM:214110
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Metabolic acidosis, Renal tubular acidosis OMIM:619575
Combined Oxidative Phosphorylation Deficiency 4
Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Respiratory failure OMIM:610678
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria ORPHA:33574
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Central apnea ORPHA:320385
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Tubulointerstitial... ORPHA:90068
Fixed Subaortic Stenosis
Aortic regurgitation, Orthopnea, Paroxysmal atrial fibrillation, Angina pectoris, Congestive hear... ORPHA:3092
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Hepatomegaly, Ankle flexion contracture, Splenomegaly, Patent ductus arteri... OMIM:608799
Dyskeratosis Congenita, Autosomal Recessive 8
Petechiae OMIM:620133
Chromosome 14Q11-Q22 Deletion Syndrome
Renal tubular acidosis OMIM:613457
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Abnormality of the liver, S... ORPHA:97214
Acetyl-Coa Acetyltransferase-2 Deficiency
Increased serum lactate OMIM:614055
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Central apnea OMIM:615031
Inhalational Anthrax
Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension ORPHA:247257
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Mi... ORPHA:99147
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis OMIM:615398
Von Willebrand Disease, Type 3
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... OMIM:277480
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Scapular winging, Bronchiectasis, Small thenar eminence, Tendon rupture, Bruising susceptibility,... OMIM:620080
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Renal insufficiency, Proteinuria, Increased serum lactate, Proximal renal tubular... ORPHA:534
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hepatomegaly, Dicarboxylic aciduria, Congestive heart failure, Microvesicul... OMIM:212140
Cystic Fibrosis
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Asthma, Recurrent ... OMIM:219700
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Metabolic acidosis, Medium chain dicarboxylic aciduria, Hyperglycinuria OMIM:201450
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage,... ORPHA:99931
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Cyanosis OMIM:613977
Nemaline Myopathy 2
Respiratory insufficiency due to muscle weakness, Apnea OMIM:256030
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Hypokalemic metabolic alkalosis, Polyuria, Renal salt wasting, Increased urinar... OMIM:241200
Hermansky-Pudlak Syndrome 4
Abnormal bleeding, Epistaxis, Restrictive ventilatory defect, Menorrhagia, Pulmonary fibrosis, Br... OMIM:614073
Scorpion Envenomation
Bundle branch block, Tachypnea, Prominent U wave, Ketonuria, ST segment depression, Glycosuria, A... ORPHA:466677
Joubert Syndrome 5
Central apnea, Episodic tachypnea, Impaired renal concentrating ability, Stage 5 chronic kidney d... OMIM:610188
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased serum lactate, Apnea OMIM:612949
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Proteinuria, Congestive hea... OMIM:617303
Necrotizing Enterocolitis
Increased serum lactate, Acidosis, Apnea, Metabolic acidosis ORPHA:391673
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis, Hypotension, Cough ORPHA:99825
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Hypospadias OMIM:300934
Mitochondrial Myopathy, Infantile, Transient
Respiratory insufficiency due to muscle weakness, Lactic acidosis, Increased serum lactate OMIM:500009
Mitochondrial Complex I Deficiency, Nuclear Type 1
3-hydroxydicarboxylic aciduria, Elevated lactate:pyruvate ratio, Cyanosis, Apnea, Hypospadias, La... OMIM:252010
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Hepatomegaly, Pulmonary embolism, Congestiv... ORPHA:90308
Oculoskeletodental Syndrome
Mucopolysacchariduria, Renal agenesis, Hypercalciuria OMIM:618440
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinuria, Hypercalciuria, Increased urine deoxypyridinoline level OMIM:239000
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture... ORPHA:1145
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Hepatomegaly, Tricuspid regurgitation, Cyanos... ORPHA:555874
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lactic acidosis, Hypoventilation, Breathing dysregulation OMIM:618232
Shigellosis
Pneumonia, Hemolytic-uremic syndrome, Myocarditis, Peritonitis, Urethritis, Rhabdomyolysis, Chole... ORPHA:810
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Methylmalonic acidemia, Apnea, Hypospadias, Increased serum lactate, Methyl... ORPHA:17
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Acute hyperammonemia, Ketonuria, Ketoacidosis, Hyperglycinuria, Hyperammonemia, Metabolic acidosi... OMIM:210210
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Facial palsy, Dyspnea, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal pulmona... OMIM:612387
Severe X-Linked Intellectual Disability, Gustavson Type
Vesicoureteral reflux, Apneic episodes in infancy ORPHA:3078
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Ketonuria, Increased serum lactate, Dyspnea, Lactic acidosis, 3-Methylglutaconic aciduria, Myoglo... OMIM:251900
Lymphoid Interstitial Pneumonia
Crackles, Dyspnea, Wheezing, Bronchiectasis, Hypoxemia, Restrictive ventilatory defect, Pulmonary... ORPHA:79128
Combined Oxidative Phosphorylation Deficiency 38
Lactic acidosis, Increased serum lactate, Respiratory insufficiency OMIM:618378
Chikungunya
Abnormal bleeding, Epistaxis, Raynaud phenomenon, Erythema, Gingival bleeding, Skin vesicle, Cuta... ORPHA:324625
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Urinary incontinence, Hypopnea, Restrictive ventilatory defect, Aspiratio... OMIM:619482
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Cyanosis, Renal agenesis, Bilateral cryptorchidism, Congestive heart failur... ORPHA:2326
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Postprandial hyperlactemia, Intermittent lactic acidemia, Abnormality of the kidney, Proteinuria ORPHA:369
Al Amyloidosis
Nonproductive cough, Abnormality of the liver, Abnormal EKG, Hepatomegaly, Abnormality of the kid... ORPHA:85443
Tempi Syndrome
Hypoxemia, Transudative pleural effusion, Abnormality of the kidney ORPHA:284227
Primary Unilateral Adrenal Hyperplasia
Metabolic alkalosis, Epistaxis, Increased urinary potassium ORPHA:231580
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart ... ORPHA:422
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Methylmalonic acidemia, Respiratory insufficiency due to muscle weakness, Increased serum lactate... OMIM:612073
Breath-Holding Spells
Cyanosis, Pallor OMIM:607578
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Myopathy With Lactic Acidosis, Hereditary
Lactic acidosis, Dyspnea, Myoglobinuria, Increased serum lactate OMIM:255125
Congenital Diaphragmatic Hernia
Respiratory distress, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Hypox... ORPHA:2140
Yellow Nail Syndrome
Renal neoplasm, Recurrent respiratory infections, Sinusitis, Biliary tract neoplasm, Dyspnea, Bro... ORPHA:662
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... OMIM:600376
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopa... ORPHA:563
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage OMIM:605735
Opsismodysplasia
Renal phosphate wasting, Respiratory insufficiency OMIM:258480
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Dyspnea, Nonproductive cough, Wheezing, Asthma, Hypoxemia, Restrictive ventilatory defe... ORPHA:2902
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating creatinine concentration, Renal neutrophilic tubulitis, Renal interstitial e... ORPHA:91500
Myasthenic Syndrome, Congenital, 20, Presynaptic
Stridor, Hypoventilation, Apnea OMIM:617143
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Increased serum lactate, Metabolic acidosis OMIM:610090
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Hepatomegaly, Renal insufficiency, Splenomegaly, Cardiomyopathy, Pancreatitis ORPHA:79312
Tenorio Syndrome
Enuresis, Recurrent pneumonia, Apnea OMIM:616260
Corticosterone Methyloxidase Type I Deficiency
Renal salt wasting OMIM:203400
Attenuated Chédiak-Higashi Syndrome
Recurrent respiratory infections, Epistaxis, Skin ulcer, Gingival bleeding, Bruising susceptibility ORPHA:352723
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... ORPHA:774
Double Outlet Right Ventricle
Tachycardia, Cyanosis, Tachypnea, Heart murmur, Pulmonic stenosis, Pulmonary artery atresia, Trun... ORPHA:3426
Corticosterone Methyloxidase Type Ii Deficiency
Renal salt wasting OMIM:610600
Hsd10 Disease, Infantile Type
Cyanosis, Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Abnormal ... ORPHA:391428
Combined Oxidative Phosphorylation Deficiency 45
Increased serum lactate OMIM:618951
Mercury Poisoning
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Interstitial pneumonitis, Respiratory f... ORPHA:330021
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Joint contracture OMIM:617977
Acute Generalized Exanthematous Pustulosis
Renal insufficiency, Dyspnea, Cholestasis, Scaling skin, Skin vesicle, Purpura ORPHA:293173
Alpha-Thalassemia-Myelodysplastic Syndrome
Abnormal bleeding, Dyspnea, Bruising susceptibility, Splenomegaly ORPHA:231401
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Trach... ORPHA:137914
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox... ORPHA:747
Autosomal Recessive Spastic Paraplegia Type 77
Neurogenic bladder, Sudden episodic apnea, Urinary incontinence, Detrusor sphincter dyssynergia ORPHA:466722
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Pulmonary embolism, Increased pulmonary vascular resistance, Reduced FEV1... ORPHA:70591
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... OMIM:193400
Mitochondrial Complex I Deficiency, Nuclear Type 23
Increased serum lactate OMIM:618244
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Apnea OMIM:616896
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lactic acidosis, Increased serum lactate, Respiratory insufficiency OMIM:617668
Larsen-Like Syndrome, Lethal Type
Respiratory insufficiency, Neonatal death, Pulmonary hypoplasia, Tracheomalacia, Pulmonary insuff... OMIM:245650
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Proteinuria, Aminoaciduria, Subcutaneous hemorrhage, Pulmonary hemorrhage OMIM:603585
Relapsing Polychondritis
Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Myocarditis, Atelectasis, Dyspnea... ORPHA:728
Common Variable Immunodeficiency
Recurrent respiratory infections, Pneumonia, Splenomegaly, Vasculitis, Bronchiectasis, Restrictiv... ORPHA:1572
Alagille Syndrome 1
Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas... OMIM:118450
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Metabolic acidosis ORPHA:2597
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Multiple Mitochondrial Dysfunctions Syndrome 5
Increased serum lactate OMIM:617613
Myelofibrosis
Splenomegaly, Pallor, Purpura OMIM:254450
Multiple Acyl-Coa Dehydrogenase Deficiency
Dyspnea, Glutaric aciduria, Lacticaciduria, Cardiorespiratory arrest, Hyperammonemia, Lactic acid... ORPHA:26791
Dimethylglycine Dehydrogenase Deficiency
Elevated urinary N,N-dimethylglycine level OMIM:605850
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Hepatomegaly, Death in infancy, Cardiac arrest, Myopathy, Increased variabi... OMIM:604377
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea ORPHA:621
Combined Oxidative Phosphorylation Deficiency 43
Increased serum lactate OMIM:618851
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Increased serum lactate ORPHA:320360
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Respiratory distress, Prominent superf... ORPHA:363705
Oxoglutarate Dehydrogenase Deficiency
Increased serum lactate, Metabolic acidosis, Congenital lactic acidosis OMIM:203740
Combined Oxidative Phosphorylation Deficiency 5
Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Abnormal renal tubu... OMIM:611719
Coenzyme Q10 Deficiency, Primary, 7
Increased serum lactate, Respiratory insufficiency OMIM:616276
Developmental And Epileptic Encephalopathy 53
Increased serum lactate OMIM:617389
Acute Peripheral Arterial Occlusion
Acidosis ORPHA:90064
Hermansky-Pudlak Syndrome 3
Abnormal bleeding, Spontaneous, recurrent epistaxis, Bruising susceptibility, Gingival bleeding OMIM:614072
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Hepatomegaly, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respirat... OMIM:614299
Joubert Syndrome With Hepatic Defect
Multicystic kidney dysplasia, Renal insufficiency, Apnea, Nephropathy, Abnormal pattern of respir... ORPHA:1454
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Increased serum... ORPHA:663
Scimitar Syndrome
Respiratory distress, Recurrent respiratory infections, Left-to-right shunt, Abnormal hemidiaphra... ORPHA:185
Sarcoidosis, Susceptibility To, 1
Dyspnea, Bronchiectasis, Hypercalciuria, Hypoxemia, Restrictive ventilatory defect, Pleural effus... OMIM:181000
Developmental And Epileptic Encephalopathy 99
Central apnea OMIM:619606
Cardiomyopathy, Dilated, 2H
Neonatal death, Reduced left ventricular ejection fraction, Tachypnea, Cardiorespiratory arrest OMIM:620203
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Metabolic alkalosis, Epistaxis, Increased urinary potassium ORPHA:231625
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Apnea, Homocystinuria ORPHA:395
Familial Isolated Restrictive Cardiomyopathy
Recurrent respiratory infections, Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Hepato... ORPHA:75249
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... ORPHA:98914
Familial Renal Glucosuria
Recurrent urinary tract infections, Renal tubular dysfunction, Enuresis, Glycosuria, Nephropathy ORPHA:69076
D-Glyceric Aciduria
Metabolic acidosis, Hyperglycinuria ORPHA:941
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Skeletal muscle atrophy, Respiratory insufficiency due to... OMIM:615512
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta... ORPHA:411703
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Renal insufficiency, Cyanosis, Partial anomalous pulmonary venous return, Renal... OMIM:617478
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Transient ischemic attac... OMIM:610655
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Cryptorchidism, Heart murmur, Acrocyanosis, Decreased testicular size ORPHA:1867
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Urinary incontinence, Redundant skin, Congestive heart failu... OMIM:616482
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Increased serum lactate OMIM:545000
Mitochondrial Myopathy With Lactic Acidosis
Increased serum lactate, Lactic acidosis, Elevated serum anion gap OMIM:251950
Combined Oxidative Phosphorylation Deficiency 10
Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Pleural effusion OMIM:614702
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Metabolic acidosis, Lactic acidosis, Tachypnea OMIM:616501
Histidinuria Due To A Renal Tubular Defect
Impaired histidine renal tubular absorption, Histidinuria OMIM:235830
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hemoglobinuria, Anuria, Elevated circulating creatinine concentration, Acute kidney injury ORPHA:90038
Mitochondrial Trifunctional Protein Deficiency 2
Recurrent myoglobinuria, Increased serum lactate, Hyperammonemia, Metabolic acidosis, Myoglobinuria OMIM:620300
Postinfectious Vasculitis
Cerebral vasculitis, Viral hepatitis, Palpable purpura, Membranoproliferative glomerulonephritis,... ORPHA:48435
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress, Congenital contracture OMIM:615042
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Right bund... OMIM:613243
Sickle Cell Disease
Hypoxemia, Renal insufficiency, Hematuria OMIM:603903
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Atypical Rett Syndrome
Sudden episodic apnea, Episodic tachypnea, Abnormal pattern of respiration ORPHA:3095
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Nasal polyposis, Sinusitis, Bronchiectasi... OMIM:606763
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Increased serum lactate, Pneumothorax, Renal cyst, Nephrocalcinosis, Respira... ORPHA:445038
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Skeletal muscle atrophy, Sc... ORPHA:98915
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Bruising susceptibility,... OMIM:614076
Diaphanospondylodysostosis
Respiratory distress, Multiple renal cysts ORPHA:66637
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Increased serum lactate, Lacticaciduria, L... OMIM:613070
Glycogen Storage Disease 0, Liver
Increased serum lactate OMIM:240600
Hyperekplexia 3
Respiratory arrest, Apnea OMIM:614618
Pontocerebellar Hypoplasia Type 2
Apnea ORPHA:2524
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Pulmonary arterial ... OMIM:619051
Paganini-Miozzo Syndrome
Elevated lactate:pyruvate ratio, Increased serum lactate, Urinary incontinence OMIM:301025
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Tubulointerstitial nephritis... ORPHA:289390
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, C... ORPHA:137675
Mitochondrial Complex I Deficiency, Nuclear Type 30
Metabolic acidosis OMIM:301021
Quebec Platelet Disorder
Joint hemorrhage, Bruising susceptibility, Menorrhagia, Epistaxis OMIM:601709
Coenzyme Q10 Deficiency, Primary, 5
Lactic acidosis, Increased serum lactate, Respiratory insufficiency OMIM:614654
Criss-Cross Heart
Cyanosis, Tricuspid stenosis, Respiratory insufficiency, Pulmonic stenosis, Mitral stenosis, Supr... ORPHA:1461
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:1345
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Respiratory distress, Tachycardia, Hepatomegaly, Exercise-induced rhabdomy... ORPHA:26793
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Reduced forced vital capacity, Restrictive ventilatory defect, Nocturnal hypoventilation, Exercis... OMIM:607155
2,4-Dienoyl-Coa Reductase Deficiency
Increased serum lactate, Hyperlysinuria, Metabolic acidosis OMIM:616034
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Hypospadias, Increased serum lactate, Lactic acidosis, Pulmonary arterial h... OMIM:619272
Cinca Syndrome
Urticaria, Hepatomegaly, Splenomegaly, Purpura ORPHA:1451
Cushing Disease
Increased urinary cortisol level, Plethora, Dorsocervical fat pad, Myocardial infarction, Poor wo... ORPHA:96253
Isolated Atp Synthase Deficiency
Respiratory distress, Renal hypoplasia, Hyperammonemia, Lactic acidosis, 3-Methylglutaconic aciduria ORPHA:254913
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Macroglossia, Bradycardia, Prolonged neonatal jaundice, Dry skin ORPHA:226313
Pyruvate Dehydrogenase E1-Beta Deficiency
Lactic acidosis, Hyperammonemia OMIM:614111
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal insufficiency, Hypospadias, Apnea, Tachypnea, Renal cortical cysts, Hyperechogenic kidneys,... ORPHA:397715
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Abnormal skeletal muscle morphology, Neo... ORPHA:142
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Mixed respiratory and metabolic acidosis OMIM:145600
Teratoma, Pineal
Polyuria OMIM:273120
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Combined Oxidative Phosphorylation Deficiency 57
Apnea, Central hypoventilation OMIM:620167
Hypomagnesemia 6, Renal
Impaired renal tubular reabsorption of magnesium OMIM:613882
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Increased serum lactate, Dyspnea, Lactic acidosis, Renal tubular dysfunction, Glycosuria, Exertio... OMIM:616539
Combined Oxidative Phosphorylation Deficiency 8
Lactic acidosis, Increased serum lactate, Metabolic acidosis OMIM:614096
Leigh Syndrome
Increased serum lactate, Respiratory insufficiency, Lactic acidosis, Respiratory failure, Abnorma... OMIM:256000
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Increased serum lactate, Elevated urine acetoacetic acid level, 3-Methylglutaconic aciduria, Alph... OMIM:620089
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Increased serum lactate, Metabolic acidosis, Hyperammonemia OMIM:620137
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Mitochondrial Dna Depletion Syndrome 17
Acidosis, Hyperammonemia OMIM:618567
Hyperekplexia 1
Aspiration, Apnea OMIM:149400
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Cryptorchidism, Micropenis, Death in childhood OMIM:615597
Pulmonary Hypertension, Primary, 5
Angina pectoris, Right ventricular failure, Syncope, Right ventricular hypertrophy, Pulmonary art... OMIM:265400
Laryngeal Abductor Paralysis
Stridor, Cyanosis OMIM:150260
Coenzyme Q10 Deficiency, Primary, 2
Elevated lactate:pyruvate ratio, Pulmonary arterial hypertension, Increased serum lactate OMIM:614651
Neurological Conditions Associated With Aminoacylase 1 Deficiency
Apnea ORPHA:137754
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Dyspnea, Ventricular t... OMIM:612098
Combined Oxidative Phosphorylation Deficiency 1
Elevated lactate:pyruvate ratio, Increased serum lactate, Metabolic acidosis OMIM:609060
Argininosuccinic Aciduria
Aminoaciduria, Oroticaciduria, Hyperammonemia ORPHA:23
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Intracrani... ORPHA:3226
Coenzyme Q10 Deficiency, Primary, 4
Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate OMIM:612016
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Apnea OMIM:614498
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Increased serum lactate, Abnormal medullary pyramid morphology, La... ORPHA:79243
Mucopolysaccharidosis Type 1
Mucopolysacchariduria, Sinusitis, Apnea, Cough ORPHA:579
Cutis Marmorata Telangiectatica Congenita
Multicystic kidney dysplasia, Telangiectasia of the skin, Cutis marmorata, Patent ductus arterios... ORPHA:1556
Developmental And Epileptic Encephalopathy 101
Apnea OMIM:619814
Arthrogryposis Multiplex Congenita 6
Death in infancy, Hypospadias, Respiratory failure, Death in childhood, Neonatal death, Increased... OMIM:619334
Joubert Syndrome 2
Central apnea, Renal insufficiency, Episodic tachypnea, Renal cyst, Nephronophthisis, Neonatal br... OMIM:608091
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Lactic acidosis, Increased serum lactate, Hyperammonemia OMIM:618416
Corticosteroid-Binding Globulin Deficiency
Decreased urinary potassium OMIM:611489
Myotonic Dystrophy 1
Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block, F... OMIM:160900
Arima Syndrome
Proteinuria, Polyuria, Dyspnea, Tachypnea, Stage 5 chronic kidney disease, Hematuria, Renal corti... OMIM:243910
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Increased serum lactate OMIM:617069
D-Glyceric Aciduria
Metabolic acidosis, Neonatal respiratory distress, Aminoaciduria, Micropenis OMIM:220120
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemic alkalosis, Proximal tubulopathy OMIM:241150
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Dermal translucency, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothor... OMIM:130050
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Redundant neck skin, Cryptorchidism, Patent ductus arteriosus, Pulmonary ar... ORPHA:2519
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Renal salt wasting OMIM:614736
Mitochondrial Trifunctional Protein Deficiency 1
Hyperammonemia, Respiratory insufficiency, Lactic acidosis, Respiratory failure, Myoglobinuria OMIM:609015
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Arrhythmia, Bruising susceptibility ORPHA:230839
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Hyperventilation OMIM:617903
Mitochondrial Complex I Deficiency, Nuclear Type 15
Increased serum lactate, Metabolic acidosis OMIM:618237
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Axial muscle stiffness ORPHA:240085
Generalized Arterial Calcification Of Infancy
Respiratory distress, Hyperphosphaturia, Cyanosis, Nephrocalcinosis, Cortical nephrocalcinosis, P... ORPHA:51608
Double Outlet Left Ventricle
Cyanosis, Cryptorchidism, Pulmonary artery stenosis, Tachypnea, Patent ductus arteriosus, Abnorma... ORPHA:3427
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Renal insufficiency, Respiratory d... ORPHA:537
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Tetanus
Respiratory distress, Tachycardia, Elevated urinary norepinephrine level, Tachypnea, Elevated uri... ORPHA:3299
Combined Oxidative Phosphorylation Deficiency 48
Increased serum lactate, Lactic acidosis OMIM:619012
Microvillus Inclusion Disease
Nephrocalcinosis, Metabolic acidosis, Abnormal renal physiology ORPHA:2290
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Myotonia, Potassium-Aggravated
Stridor, Apneic episodes in infancy OMIM:608390
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Patent ductus arteriosus, Respiratory insufficiency OMIM:601612
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Pneumonia, Raynaud phenomenon, Restrictive ventilatory defect, ... OMIM:607944
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Cutis marmorata, Calcium oxalate nephrolithiasis, Raynaud phe... OMIM:259900
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Abnormality of the kidney, Neonatal asphyxia, Abnormal lung morph... ORPHA:141127
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... OMIM:211530
Isolated Glycerol Kinase Deficiency
Metabolic acidosis ORPHA:408
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Polyuria OMIM:560000
Combined Oxidative Phosphorylation Deficiency 37
Increased serum lactate, Respiratory insufficiency, Lactic acidosis, Respiratory failure, 3-Methy... OMIM:618329
Wolfram Syndrome
Central apnea, Recurrent urinary tract infections, Dysuria, Respiratory insufficiency, Abnormalit... ORPHA:3463
Mitochondrial Complex I Deficiency, Nuclear Type 11
Lactic acidosis, Increased serum lactate, Metabolic acidosis OMIM:618234
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Lactic acidosis, Respiratory failure, Increased serum lactate, Metabolic acidosis ORPHA:70472
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Bruising susceptibility, Arterial rupture, Poor wound healing, Dermal translucency OMIM:619120
Myotonia Fluctuans
Stridor, Apnea ORPHA:99734
Combined Oxidative Phosphorylation Deficiency 23
Lactic acidosis, Increased serum lactate OMIM:616198
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Recurrent infections due to aspiration, Hypertension, Decre... OMIM:223900
Dihydrolipoamide Dehydrogenase Deficiency
Lactic acidosis, Metabolic acidosis, Ketoacidosis OMIM:246900
Wieacker-Wolff Syndrome
Neonatal respiratory distress, Apnea OMIM:314580
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Abnormality of the kidney, Myocardial infarction, Pulmonary embolism, Transient ... ORPHA:464343
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... OMIM:263200
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... ORPHA:84081
Auriculocondylar Syndrome 1
Apnea OMIM:602483
Cirrhotic Cardiomyopathy
Abnormal bleeding, Prolonged QT interval, Elevated jugular venous pressure, Hepatomegaly, Left ve... ORPHA:57777
Tularemia
Respiratory distress, Tachycardia, Pneumonia, Cough, Pleural effusion ORPHA:3392
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Tricuspid regurgitation, Diastasis recti, Cryptorchidism, Pneumothorax, Fra... OMIM:601776
Genitopatellar Syndrome
Multicystic kidney dysplasia, Apnea, Hydronephrosis ORPHA:85201
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Neonatal respiratory distress, Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal... ORPHA:228308
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Skeletal muscle atrophy, Cholangitis, Pulmonary embolism, Intracranial hemo... ORPHA:3260
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Congenital Left Ventricular Aneurysm
Apnea ORPHA:1055
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Death in infancy, Pulmonary hypoplasia, P... OMIM:184260
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... ORPHA:99880
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Renal artery aneurysm, Cutis marmorata, Portal hypertension, Raynaud phenomenon, Sp... OMIM:615688
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Flexion contracture, Oligosacchariduria, Lower limb muscle weakness, Hepato... ORPHA:365
Pontocerebellar Hypoplasia, Type 7
Micropenis, Apnea OMIM:614969
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Pro... ORPHA:505248
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Lactic acidosis, Pulmonary arterial hypertension, Increased serum lactate OMIM:619059
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Contracture of the proximal interphalangeal joint of the 3rd finger, Bruising susceptibility, Con... OMIM:130060
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Joint contracture of the 5th finger, Bradycardia, Atrioventricular block OMIM:614407
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Apnea OMIM:300055
Stormorken Syndrome
Abnormal bleeding, Epistaxis, Subarachnoid hemorrhage, Asplenia, Hematuria, Myopathy, Hypoplastic... OMIM:185070
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Poor wound healing, Abnormality of the spleen, Splenomegaly, Ab... ORPHA:2072
Lactase Deficiency, Congenital
Metabolic acidosis OMIM:223000
Illum Syndrome
Apnea OMIM:208155
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Parathyroid Carcinoma
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... ORPHA:143
Glutaric Acidemia I
Metabolic acidosis, Glutaric aciduria, Ketonuria, Elevated circulating glutaric acid concentration OMIM:231670
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Apnea ORPHA:1129
Maple Syrup Urine Disease
Lactic acidosis, Increased level of hippuric acid in urine OMIM:248600
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Lactic acidosis, Aminoaciduria, Ketonuria OMIM:614520
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Increased serum lactate OMIM:617070
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Dyspn... ORPHA:275766
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Ehlers-Danlos Syndrome, Classic-Like
Poor wound healing, Unilateral renal agenesis, Proximal amyotrophy, Vesicoureteral reflux, Bruisi... OMIM:606408
Yellow Fever
Renal insufficiency, Anuria, Elevated circulating creatinine concentration, Decreased serum bicar... ORPHA:99829
Joubert Syndrome 1
Central apnea, Episodic tachypnea, Renal cyst, Nephropathy, Neonatal breathing dysregulation OMIM:213300
Combined Oxidative Phosphorylation Deficiency 34
Increased serum lactate, Lactic acidosis, Elevated circulating creatinine concentration OMIM:617872
Neurodegeneration With Brain Iron Accumulation 8
Increased serum lactate OMIM:617917
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathionin... OMIM:277400
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Lactic acidosis, Increased serum lactate ORPHA:139485
Brucellosis
Hepatomegaly, Pericarditis, Lung abscess, Transient ischemic attack, Glomerulonephritis, Bronchit... ORPHA:1304
Meckel Syndrome 14
Tricuspid regurgitation, Cyanosis, Pneumothorax, Cardiorespiratory arrest, Mitral regurgitation, ... OMIM:619879
Joubert Syndrome 21
Apnea, Dyspnea, Renal cyst, Respiratory failure, Hyperechogenic kidneys, Chronic sinusitis OMIM:615636
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Dyspnea, Right bundle branch block, Reduced left ventricula... OMIM:115195
Dermotrichic Syndrome
Aminoaciduria ORPHA:99688
Congenital Disorder Of Glycosylation, Type Ij
Apnea, Respiratory insufficiency OMIM:608093
Lethal Recessive Chondrodysplasia
Respiratory distress, Macroglossia ORPHA:1423
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Telangiectasia of the skin, Myocardial infarction... ORPHA:221
Intellectual Developmental Disorder, Autosomal Dominant 54
Urinary retention, Apnea, Hyperventilation OMIM:617799
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cryptorchidism, Patent ductus arteriosus, Cyanosis, Pulmonic stenosis ORPHA:3304
Rett Syndrome
Apnea, Intermittent hyperventilation OMIM:312750
Developmental And Epileptic Encephalopathy 82
Increased serum lactate, Hyperammonemia OMIM:618721
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Palpitations, Left ventri... OMIM:613873
Mitochondrial Complex I Deficiency, Nuclear Type 17
Lactic acidosis, Increased serum lactate OMIM:618239
X-Linked Ehlers-Danlos Syndrome
Bruising susceptibility ORPHA:75497
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Increased serum lactate, 3-Methylglutaconic aciduria ORPHA:496790
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Methylmalonic aciduria ORPHA:1933
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Lactic acidosis, Ketonuria, Lacticaciduria, Aspiration pneumonia OMIM:619167
Odontochondrodysplasia
Respiratory distress, Death in infancy, Patent ductus arteriosus ORPHA:166272
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang... ORPHA:93672
Joubert Syndrome
Apnea, Episodic tachypnea, Abnormal pattern of respiration ORPHA:475
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Pulmonary embolism, Respiratory tract infection, Dyspnea, Chro... ORPHA:567546
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality of the urinary system, Congenital megau... ORPHA:369837
Diarrhea 12, With Microvillus Atrophy
Metabolic acidosis, Bronchiectasis OMIM:619445
Late-Onset Familial Hypoaldosteronism
Renal sodium wasting ORPHA:556037
Combined Oxidative Phosphorylation Deficiency 32
Lactic acidosis, Increased serum lactate, Horseshoe kidney OMIM:617664
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Bruising susceptibility, Flexion contracture, Thenar muscle atrophy ORPHA:157965
Cystinosis
Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Nephropathy ORPHA:213
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Splenomegaly, Menorrhagia, Bruising suscep... OMIM:139090
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Renal insufficiency, Neonatal respiratory... OMIM:614748
Kcnq2-Related Epileptic Encephalopathy
Apnea ORPHA:439218
Hereditary Orotic Aciduria
Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria ORPHA:30
Myasthenia Gravis
Myositis, Raynaud phenomenon, Dyspnea, Hepatitis, Glycosuria, Acrocyanosis ORPHA:589
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, ... ORPHA:488627
Orofaciodigital Syndrome Type 6
Renal agenesis, Apnea, Episodic tachypnea, Renal hypoplasia/aplasia ORPHA:2754
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Increased serum lactate ORPHA:330050
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Lactic acidosis, Hematuria, Focal segmental glomerulosclerosis,... OMIM:232240
Hyperuricemic Nephropathy, Familial Juvenile, 3
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morphology OMIM:614227
Diaphanospondylodysostosis
Respiratory distress, Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Respiratory insuff... OMIM:608022
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Bardet-Biedl Syndrome 17
Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst OMIM:615994
Agel Amyloidosis
Proteinuria, Facial palsy, Respiratory tract infection, Stage 5 chronic kidney disease, Dry skin,... ORPHA:85448
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Megacystis, Polyuria OMIM:125800
Stt3B-Cdg
Respiratory distress, Cryptorchidism, Micropenis ORPHA:370924
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Limb joint contracture, Cyanotic episode, Ankle flexion contracture, Knee flexion contracture ORPHA:284417
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Megacystis, Polyuria OMIM:304800
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Lactic acidosis, Increased serum lactate ORPHA:255182
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypospadias, Increased serum lactate, Respiratory insufficiency, Hyperammonemia, Lactic acidosis,... OMIM:614052
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy, Acrocyanosis ORPHA:2400
Leptospirosis
Respiratory distress, Hepatomegaly, Pericarditis, First degree atrioventricular block, Cellular u... ORPHA:509
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Increased serum lactate OMIM:615159
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Familial Dysautonomia
Abnormal peritoneum morphology, Glomerulopathy, Renal insufficiency, Orthostatic hypotension, Tac... ORPHA:1764
Netherton Syndrome
Ectopic kidney, Asthma, Aminoaciduria, Emphysema, Hydronephrosis ORPHA:634
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Crackles, Right ven... ORPHA:99095
Spastic Paraplegia Type 2
Recurrent respiratory infections, Spastic/hyperactive bladder, Pulmonary embolism ORPHA:99015
Chiari Malformation Type Ii
Limb muscle weakness, Cyanosis, Inspiratory stridor OMIM:207950
Combined Oxidative Phosphorylation Deficiency 14
Lactic acidosis, Aminoaciduria, Increased serum lactate OMIM:614946
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria OMIM:250620
Mitochondrial Complex I Deficiency, Nuclear Type 12
Increased serum lactate OMIM:301020
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Hepatomegaly, Cerebral ischemia ORPHA:927
Adrenal Hypoplasia, Congenital
Renal salt wasting OMIM:300200
Early-Onset Familial Hypoaldosteronism
Renal sodium wasting ORPHA:556030
Classical Ehlers-Danlos Syndrome
Prolonged bleeding time, Orthostatic hypotension, Prematurely aged appearance, Poor wound healing... ORPHA:287
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Increased serum lactate, Metabolic acidosis, Respiratory insufficiency ORPHA:88639
Mitochondrial Complex I Deficiency, Nuclear Type 32
Increased serum lactate, Respiratory failure, Metabolic acidosis, Patent urachus OMIM:618252
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamine level, Elevated urinary norepinephrine level, Hypercalciuria, Neph... ORPHA:653
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... OMIM:618426
Diethylstilbestrol Syndrome
Central apnea, Micropenis, Hypospadias ORPHA:1916
Alport Syndrome
Mesangial hypercellularity, Cough, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 depositi... ORPHA:63
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Mitral regurgitation, Bruising susceptibility OMIM:225320
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Increased serum lactate, Dyspnea ORPHA:1349
Combined Oxidative Phosphorylation Deficiency 2
Lactic acidosis, Increased serum lactate OMIM:610498
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Respiratory distress, Congestive heart failure, Recurrent pneumonia, Flexion c... OMIM:616271
Combined Oxidative Phosphorylation Deficiency 31
Lactic acidosis, Increased serum lactate OMIM:617228
Gaucher Disease Type 1
Hepatomegaly, Proteinuria, Hypersplenism, Splenomegaly, Abnormal pulmonary interstitial morpholog... ORPHA:77259
Amish Lethal Microcephaly
Metabolic acidosis, Organic aciduria ORPHA:99742
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Mixed total anomalous pulmonary venous connection, Apneic episodes in infan... ORPHA:99125
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Bruising susceptibility, Arterial rupture, Poor wound healing, Dermal translucency OMIM:619115
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Cutis marmorata, Subarachnoid hemorrhage, Patent... ORPHA:91387
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Hypospadia... ORPHA:209905
Striatonigral Degeneration, Infantile, Mitochondrial
Increased serum lactate OMIM:500003
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Increased serum lactate, Dyspnea, Severe lactic acidosis OMIM:615418
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... ORPHA:758
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Increased serum lactate, Renal insufficiency, Mild proteinuria OMIM:619147
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema OMIM:178400
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Portal hypertension, Malformation of th... OMIM:208540
Perrault Syndrome 5
Increased serum lactate OMIM:616138
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased serum lactate, Respiratory failure requiring assisted ventilation OMIM:619026
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Hypotension, Inspiratory stridor ORPHA:100050
Moebius Syndrome
Respiratory distress, Congenital fibrosis of extraocular muscles, Facial diplegia, Camptodactyly,... OMIM:157900
Methemoglobinemia And Ambiguous Genitalia
Scrotal hypospadias, Micropenis, Cyanosis, Hypospadias OMIM:250790
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Congenital Enterovirus Infection
Abnormal bleeding, Respiratory distress, Myocarditis, Hepatitis, Cholestasis, Cardiomyopathy, Hyp... ORPHA:292
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Dyspnea ORPHA:2759
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Absent gallbladder, Asplenia, Patent ductus arteriosus, Annular pancreas, P... ORPHA:210122
Listeriosis
Respiratory distress, Pericarditis, Liver abscess, Miscarriage, Pneumonia, Congestive heart failu... ORPHA:533
Diarrhea 10, Protein-Losing Enteropathy Type
Metabolic acidosis, Polyuria, Pleural effusion, Renal dysplasia OMIM:618183
Hypoglossia With Situs Inversus
Respiratory distress, Polysplenia, Upper airway obstruction, Asplenia OMIM:612776
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Prematur... ORPHA:3342
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Lactic acidosis, Metabolic acidosis OMIM:245349
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Cyanosis, Anomalous origin of one pulmonary artery from ascend... ORPHA:3384
Radio-Renal Syndrome
Respiratory distress, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Dys... ORPHA:3015
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Lactic acidosis, Oroticaciduria, Increased serum lactate, Hyperammonemia OMIM:620358
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Elevated lactate:pyruvate ratio, Stress/infection-induced lactic acidosis, Increased serum lactate OMIM:252011
Tuberous Sclerosis Complex
Respiratory distress, Renal insufficiency, Abnormality of the kidney, Respiratory tract infection... ORPHA:805
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Increased serum lactate, Pulmonary arterial hypertension OMIM:619064
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Flexion contracture, Hypert... OMIM:619383
Acyl-Coa Dehydrogenase 9 Deficiency
Lactic acidosis, Dicarboxylic aciduria, Increased serum lactate, Hyperammonemia ORPHA:99901
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... OMIM:617180
Mitochondrial Dna Depletion Syndrome 19
Increased serum lactate, Hypospadias OMIM:618972
Esophageal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Renal agenesis, Bronchitis, Epi... ORPHA:1199
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Redundant neck skin, Hypospadias, Cryptorchi... OMIM:217980
Lysinuric Protein Intolerance
Increased serum lactate, Stage 5 chronic kidney disease, Respiratory insufficiency, Hyperammonemi... OMIM:222700
Xp21 Deletion Syndrome
Ketoacidosis, Apneic episodes in infancy ORPHA:261476
Gyrate Atrophy Of Choroid And Retina
Aminoaciduria ORPHA:414
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Central apnea OMIM:615157
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Waardenburg Syndrome Type 3
Tracheomalacia, Atelectasis, Acrocyanosis, Camptodactyly of finger ORPHA:896
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Death in infancy, 4-hydroxyphenylacetic aciduria, Congestive heart failure,... OMIM:617156
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Aminoaciduria OMIM:273400
Joubert Syndrome With Ocular Defect
Apnea, Abnormal pattern of respiration ORPHA:220493
Orofaciodigital Syndrome Xvi
Apnea OMIM:617563
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Tricuspid regurgitation, Pneumothorax, Glandular hypospadias, Pulmonary hyp... OMIM:620306
Holocarboxylase Synthetase Deficiency
Respiratory distress, Organic aciduria, Tachypnea ORPHA:79242
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Fucosidosis
Hepatomegaly, Decreased muscle mass, Abnormality of the gallbladder, Mucopolysacchariduria, Acroc... ORPHA:349
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Knee flexion contracture, Calf muscle hypertrophy, Multiple renal cysts, Mu... OMIM:618733
Mogs-Cdg
Respiratory distress, Hypoventilation, Apnea ORPHA:79330
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Lactic acidosis, Respiratory failure, Tachypnea, Increased serum lactate OMIM:615838
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Hypospadias, Atelectasis, Asthma, Chronic pulmonary obstruction, Abn... ORPHA:567
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea OMIM:619580
Hsd10 Mitochondrial Disease
Lactic acidosis, Metabolic acidosis OMIM:300438
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Myoglobi... OMIM:616878
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Nephrocalcinosis, Hypercalciuria, Renal dysplasia OMIM:300990
Tarp Syndrome
Cyanosis, Apnea, Hydronephrosis, Horseshoe kidney ORPHA:2886
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Plethora, Pancreatic adenocarcinoma, Dorsocervical fat pad, Myo... ORPHA:99889
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Respiratory distress, Renal cyst, Aplasia/Hypoplasia of the bladder, Ureteroc... ORPHA:79404
Microphthalmia, Syndromic 9
Renal malrotation, Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Cryptorchidism... OMIM:601186
Musculocontractural Ehlers-Danlos Syndrome
Abnormal bleeding, Decreased muscle mass, Redundant skin, Cryptorchidism, Abnormal mesentery morp... ORPHA:2953
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Apnea OMIM:617301
Combined Oxidative Phosphorylation Defect Type 27
Increased serum lactate ORPHA:477774
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Arrhythmia, Skin ulcer, Pulmonary embolism ORPHA:624
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Lactic acidosis, Aminoaciduria, Increased serum lactate, Metabolic acidosis OMIM:619055
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, Neonatal respiratory distress, ... OMIM:194080
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria OMIM:249270
Sarcoidosis
Renal insufficiency, Dyspnea, Pneumothorax, Bronchiectasis, Upper airway obstruction, Nephrolithi... ORPHA:797
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Prolonged bleeding time, Bruising susceptibility, Epistaxis OMIM:601399
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Stridor, Aspiration, Neonatal respiratory distress, Apnea OMIM:614653
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Neonatal asphyxia, Hypospadias, Penoscrotal hypospadias, Renal salt wasting ORPHA:90791
Adenosine Monophosphate Deaminase Deficiency
Increased serum lactate ORPHA:45
Combined Oxidative Phosphorylation Deficiency 33
Lactic acidosis, Nephrotic syndrome, Increased serum lactate OMIM:617713
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1
Lactic acidosis, Neonatal respiratory distress, Increased serum lactate OMIM:614388
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Increased serum lactate, Respiratory insufficiency OMIM:616479
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Increased serum lactate OMIM:619054
Pulmonary Hypertension, Primary, 3
Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Elevated pulmonary arte... OMIM:615343
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Hypoplastic spleen ORPHA:89844
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Periportal fibrosis, Bruising susceptibility, Bleeding requiring red ce... OMIM:619484
Combined Oxidative Phosphorylation Deficiency 47
Increased serum lactate, Metabolic acidosis OMIM:618958
Immunodeficiency 44
Increased serum lactate OMIM:616636
Multiple Mitochondrial Dysfunctions Syndrome 6
Increased serum lactate OMIM:617954
Placental Insufficiency
Hypoxemia ORPHA:439167
Hughes-Stovin Syndrome
Pulmonary embolism, Dyspnea, Vasculitis, Cardiorespiratory arrest, Cough, Pulmonary artery aneury... ORPHA:228116
Dilated Cardiomyopathy With Ataxia
Hypoplasia of penis, Increased serum lactate, Perineal hypospadias, 3-Methylglutaconic aciduria, ... ORPHA:66634
Hermansky-Pudlak Syndrome 11
Bruising susceptibility, Menorrhagia, Epistaxis, Gingival bleeding OMIM:619172
Sialidosis Type 1
Increased urinary O-linked sialopeptides, Aminoaciduria, Urinary excretion of sialylated oligosac... ORPHA:812
Combined Oxidative Phosphorylation Deficiency 13
Increased serum lactate OMIM:614932
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Respiratory failure, Nocturnal hypoventilation OMIM:620326
Leber Optic Atrophy And Dystonia
Increased serum lactate OMIM:500001
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Bilateral trilobed lung, Hepatomegaly, Cyanosis, Renal agenesis, Asplenia, ... OMIM:306955
Gaucher Disease, Type Ii
Stridor, Apnea, Recurrent aspiration pneumonia, Cough OMIM:230900
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Glomerulopathy, Renal insufficiency, Ketonuria, Pulmonary embolism, Hemolyt... ORPHA:79282
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Respiratory insufficiency, Knee flexion contracture, Weakness of facial musculature OMIM:617239
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Apnea OMIM:618056
Schwartz-Jampel Syndrome
Apnea, Abnormality of the ureter, Nephrolithiasis, Respiratory insufficiency, Abnormality of the ... ORPHA:800
Mitochondrial Complex I Deficiency, Nuclear Type 20
Lactic acidosis, Dicarboxylic aciduria OMIM:611126
Pyruvate Carboxylase Deficiency
Elevated lactate:pyruvate ratio, Increased serum lactate, Tachypnea, Lacticaciduria, Hyperammonem... ORPHA:3008
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Bruising susceptibility, Menorrhagia, Epistaxis OMIM:614074
Aromatic L-Amino Acid Decarboxylase Deficiency
Apnea, Cardiorespiratory arrest OMIM:608643
Bohring-Opitz Syndrome
Urinary retention, Apnea, Nephroblastoma ORPHA:97297
Athabaskan Brainstem Dysgenesis Syndrome
Central hypoventilation OMIM:601536
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure OMIM:620166
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Increased serum lactate, Spastic/hyperactive bladder ORPHA:137898
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Cryptorchidism, Bruising susceptibility, Hypospadias, Flexion contracture ORPHA:98791
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Prominent superficial veins, Camptodactyly of finger, Thenar muscle atrophy, Joint contracture of... OMIM:612350
Charcot-Marie-Tooth Disease, Type 4K
Increased serum lactate OMIM:616684
Diamond-Blackfan Anemia 10
Respiratory distress, Congenital diaphragmatic hernia, Ectopic kidney, Morgagni diaphragmatic her... OMIM:613309
Wilson Disease
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Proximal muscle weakness in lower limbs, Cirrhos... ORPHA:905
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Recurrent upper resp... OMIM:607143
Histidinemia
Histidinuria, Hyperhistidinemia ORPHA:2157
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation ORPHA:268943
Dravet Syndrome
Cyanotic episode, Pallor ORPHA:33069
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Recurrent respiratory infections, Myositis, Pneumonia, Splenomegaly, Hepati... ORPHA:37042
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Decreased muscle mass, Flexion contracture, Acute infantile spinal muscular... OMIM:271225
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Lactic acidosis, Increased serum lactate, Metabolic acidosis OMIM:619046
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hypertension, Bruising susceptibility, Dorsocervical fat pad, Fragile skin OMIM:615830
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Increased serum lactate, Respiratory failure, Micropenis OMIM:619847
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Tricuspid regurgitation, Poor wound healing, Dyspnea, Mitral regurgitation,... ORPHA:230851
Combined Oxidative Phosphorylation Deficiency 21
Increased serum lactate OMIM:615918
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Zika Virus Disease
Miscarriage, Subcutaneous hemorrhage ORPHA:448237
Sickle Cell Anemia
Hypoxemia, Elevated circulating creatinine concentration ORPHA:232
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Facial hypotonia, Cardiac conduction abnormality, Aspiration, Cardio... ORPHA:2131
Familial Glucocorticoid Deficiency
Hypernatriuria, Recurrent urinary tract infections, Renal salt wasting ORPHA:361
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Abnormal bleeding, Decreased muscle mass, Poor wound healing, Congestive heart failure, Recurrent... ORPHA:1900
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Flexion contracture ORPHA:544503
Perry Syndrome
Hypoventilation, Respiratory arrest, Central hypoventilation, Respiratory insufficiency OMIM:168605
Serotonin Syndrome
Lactic acidosis, Tachypnea, Acute kidney injury ORPHA:43116
Combined Oxidative Phosphorylation Deficiency 24
Metabolic alkalosis, Focal segmental glomerulosclerosis, Increased serum lactate OMIM:616239
Hermansky-Pudlak Syndrome 10
Apnea OMIM:617050
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Decreased renal tubular phosphate excretion, Nephrocalcinosis, Increased renal tubular phosphate ... OMIM:211900
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Episodic metabolic acidosis, Ethylmalonic aciduria OMIM:201470
Histidinemia
Histidinuria, Hyperhistidinemia OMIM:235800
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hepatomegaly, Scapular winging, Hip contracture, Limb joint contracture, Sh... OMIM:620369
Classic Homocystinuria
Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Intracranial hemorrhage, Hypertens... ORPHA:394
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Recurrent respiratory infections, Contractures of the large joints, Hepatom... ORPHA:329178
Glass Syndrome
Apnea OMIM:612313
Osteopathia Striata With Cranial Sclerosis
Tracheomalacia, Multicystic kidney dysplasia, Apnea OMIM:300373
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Apnea, Nephroblastoma ORPHA:1052
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Apnea, Respiratory insufficiency OMIM:617527
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Patent ductus arteriosus, Tricuspid regurgitation, Respiratory dist... OMIM:612863
Episodic Ataxia Type 1
Respiratory distress, Calf muscle hypertrophy ORPHA:37612
Plaa-Associated Neurodevelopmental Disorder
Apnea, Respiratory insufficiency ORPHA:521426
Lysosomal Acid Lipase Deficiency
Renal salt wasting, Abnormal urine potassium concentration, Hypernatriuria, Pulmonary arterial hy... ORPHA:275761
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Plethora, Dorsocervical fat pad, Nephrolithiasis, Proximal amyo... ORPHA:189427
Acute Adrenal Insufficiency
Decreased urinary potassium, Renal insufficiency, Hyperkalemic metabolic acidosis, Renal salt was... ORPHA:95409
Combined Oxidative Phosphorylation Deficiency 3
Elevated lactate:pyruvate ratio, Increased serum lactate, Dyspnea, Respiratory insufficiency, Hyp... OMIM:610505
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Prematurely aged appearance, Redundant skin, Poor wound healing, Progeroid ... OMIM:123700
Hermansky-Pudlak Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Renal insufficiency, Epistaxis, Dyspnea, Cardiomy... ORPHA:79430
Argininosuccinic Aciduria
Respiratory alkalosis, Aminoaciduria, Hyperammonemia, Oroticaciduria OMIM:207900
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Nephrocalcinosis, Lactic acidosis, Aminoaciduria OMIM:616084
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Lactic acidosis, Restrictive ventilatory defect, Increased serum lactate OMIM:600462
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
Coccidioidomycosis
Respiratory distress, Renal insufficiency, Pericarditis, Abnormality of the kidney, Pneumonia, Ab... ORPHA:228123
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter... ORPHA:2905
Cutis Laxa, Autosomal Recessive, Type Iib
Prominent superficial veins, Decreased muscle mass, Redundant skin, Lack of skin elasticity, Exce... OMIM:612940
Spinocerebellar Ataxia With Epilepsy
Increased serum lactate ORPHA:254881
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Increased serum lactate, Hypoventilation OMIM:620275
Eosinophilic Fasciitis
Muscular edema, Myositis, Acrocyanosis ORPHA:3165
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... ORPHA:66529
Hutchinson-Gilford Progeria Syndrome
Aortic regurgitation, Prominent superficial blood vessels, Cyanosis, Mitral stenosis, Angina pect... ORPHA:740
Cog8-Cdg
Spontaneous hematomas, Prolonged prothrombin time, Skeletal muscle atrophy ORPHA:95428
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Lactic acidosis, Ketonuria, Hyperammonemia, Increased serum lactate ORPHA:480864
Fumarase Deficiency
Bilateral fetal pyelectasis, Increased urine succinate level, Lactic acidosis, Metabolic acidosis... OMIM:606812
Mgat2-Cdg
Abnormal bleeding, Respiratory distress, Patent ductus arteriosus, Recurrent upper and lower resp... ORPHA:79329
Acth-Independent Macronodular Adrenal Hyperplasia
Hypertension, Bruising susceptibility, Striae distensae, Skeletal muscle atrophy OMIM:219080
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth, Pulmonary hypoplasia OMIM:151210
Farber Disease
Respiratory distress, Skeletal muscle atrophy, Intrahepatic cholestasis with episodic jaundice, N... ORPHA:333
Beckwith-Wiedemann Syndrome
Ureteral duplication, Nephrolithiasis, Hypercalciuria, Congenital megaureter, Multiple renal cyst... ORPHA:116
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Hydroureter, Tricuspid stenosis, Cyanosis, Valvular pulmonary stenosis, ... OMIM:212093
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Renal neoplasm, Torticollis, Multiple joint contractures, Repeated pneumoth... ORPHA:536467
Combined Oxidative Phosphorylation Deficiency 54
Elevated lactate:pyruvate ratio, Increased serum lactate OMIM:619737
Ehlers-Danlos Syndrome, Classic Type, 1
Poor wound healing, Recurrent sinusitis, Recurrent lower respiratory tract infections, Bruising s... OMIM:130000
Beta-Ureidopropionase Deficiency
Increased serum lactate, Bladder exstrophy, Metabolic acidosis OMIM:613161
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Flexion contracture OMIM:618201
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Lactic acidosis, Bradypnea, Respiratory failure, Increased serum lactate OMIM:617186
Postpoliomyelitis Syndrome
Hypoventilation, Respiratory insufficiency ORPHA:2942
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Hypospadias, Stridor, Tracheomalacia,... OMIM:114290
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... ORPHA:1677
Stuve-Wiedemann Syndrome 1
Pulmonary arterial hypertension, Apnea, Respiratory insufficiency OMIM:601559
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Nephrolithiasis, Death in childhood, Chronic lung disease OMIM:613848
Leprechaunism
Nephrocalcinosis, Long penis, Hypercalciuria, Enlarged kidney ORPHA:508
Glycogen Storage Disease Ia
Proteinuria, Nephrolithiasis, Lactic acidosis, Focal segmental glomerulosclerosis, Enlarged kidne... OMIM:232200
Generalized Pseudohypoaldosteronism Type 1
Metabolic acidosis, Wheezing, Cough ORPHA:171876
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Skeletal muscle atrophy, Limb-girdle muscle weakness, Premature graying of hair, Myopathy, Limb m... OMIM:112250
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hypoventilation, Aciduria, Increased serum lactate, 3-Methylglutaconic aciduria, Ethylmalonic aci... OMIM:203700
Pyridoxal Phosphate-Responsive Seizures
Increased serum lactate, Metabolic acidosis ORPHA:79096
Noonan Syndrome 4
Abnormal bleeding, Ureteral duplication, Cryptorchidism, Pulmonic stenosis, Hypertrophic cardiomy... OMIM:610733
Rett Syndrome
Increased serum lactate, Abnormal pattern of respiration, Hyperammonemia ORPHA:778
Infantile Krabbe Disease
Abnormal heart rate variability, Respiratory failure, Shoulder girdle muscle weakness, Respirator... ORPHA:206436
Agnathia-Otocephaly Complex
Respiratory distress, Pulmonary hypoplasia, Tracheomalacia OMIM:202650
Shwachman-Diamond Syndrome 1
Respiratory distress, Hepatomegaly, Neonatal respiratory distress, Myocardial necrosis, Nephrocal... OMIM:260400
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Renal salt wasting, Abnormal urine potassium concentration, Hypernatriuria, Midshaft hypospadias,... ORPHA:168558
Adiposis Dolorosa
Bruising susceptibility, Telangiectasia of the skin, Dry skin ORPHA:36397
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Renal salt wasting, Abnormal urine potassium concentration, Hypernatriuria, Midshaft hypospadias,... ORPHA:289548
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... ORPHA:141083
Mitochondrial Complex I Deficiency, Nuclear Type 36
Increased serum lactate OMIM:619170
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Renal dysplasia, Recurrent respiratory infections, Respiratory distress, Patent ductus arteriosus... OMIM:300968
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Long penis, Increased urinary 11-deoxycorticosterone level, Renal salt wasting ORPHA:90795
Marshall-Smith Syndrome
Apnea, Stridor, Aspiration pneumonia, Pulmonary arterial hypertension, Recurrent aspiration pneum... OMIM:602535
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Poor wound healing, Congestive heart failure, Recurrent pneumonia, A... OMIM:225400
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis ORPHA:93260
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Hepatomegaly, Skeletal muscle atrophy, Hepatocellular carcinoma, Microvesic... OMIM:256810
Cerebrooculofacioskeletal Syndrome 1
Metabolic acidosis, Recurrent pneumonia OMIM:214150
Arterial Tortuosity Syndrome
Aortic regurgitation, Progeroid facial appearance, Congenital diaphragmatic hernia, Pulmonary art... OMIM:208050
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Prolonged neonatal jaundice OMIM:185000
Achondroplasia
Hypoxemia, Restrictive ventilatory defect ORPHA:15
Ogden Syndrome
Global glomerulosclerosis, Apnea, Pulmonary arterial hypertension, Restrictive ventilatory defect... OMIM:300855
Harel-Yoon Syndrome
Increased serum lactate OMIM:617183
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Breathing dysregulation, Nephrolithiasis, Aspiration pneumonia, Vesicoure... ORPHA:438213
Pigmented Nodular Adrenocortical Disease, Primary, 2
Hypertension, Bruising susceptibility, Pancreatitis, Striae distensae OMIM:610475
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated lactate:pyruvate ratio, Hypertyrosinemia, Increased serum lactate, Lacticaciduria, Lacti... OMIM:124000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal bleeding, Hepatomegaly, Proteinuria, Epistaxis, Prolonged bleeding following procedure, ... ORPHA:79259
Macs Syndrome
Prolonged bleeding time, Redundant skin, Cryptorchidism, Urethral stenosis, Bronchiectasis, Cutis... OMIM:613075
Cryptococcosis
Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Peritonitis, Limb mu... ORPHA:1546
Pontocerebellar Hypoplasia, Type 9
Increased serum lactate OMIM:615809
Pseudohypoaldosteronism, Type Iia
Hyperchloremic acidosis OMIM:145260
Rin2 Syndrome
Cryptorchidism, Bruising susceptibility, Redundant skin ORPHA:217335
Lead Poisoning
Asthma, Chronic kidney disease, Abnormal respiratory system physiology, Renal tubular dysfunction... ORPHA:330015
Osteogenesis Imperfecta
Hypercalciuria, Neonatal respiratory distress, Nephrolithiasis ORPHA:666
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Redundant neck skin, Hypospadias, Hypertension, Palmoplantar cutis laxa OMIM:123790
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Unilateral renal agenesis, Patent ductus arteriosus, Splenic cyst, Enlarged... OMIM:618188
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring OMIM:268320
Pseudohypoaldosteronism, Type Iic
Metabolic acidosis, Decreased serum bicarbonate concentration, Hyperchloremic metabolic acidosis OMIM:614492
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Increased serum lactate OMIM:619060
Hermansky-Pudlak Syndrome 8
Epistaxis, Excessive bleeding after a venipuncture, Menorrhagia, Gingival bleeding, Excessive ble... OMIM:614077
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Hypoxemia, Pulmonary arterial hypertension, Micropenis, Hypospadias ORPHA:2282
Nocardiosis
Respiratory distress, Pericarditis, Liver abscess, Pneumonia, Productive cough, Nonproductive cou... ORPHA:31204
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Ehlers-Danlos Syndrome, Periodontal Type, 1
Prominent superficial veins, Poor wound healing, Gingival bleeding, Palmoplantar cutis laxa, Brui... OMIM:130080
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Contracture of the proximal interphalangeal joint of the 2nd finger, Thenar muscle atrophy, Elbow... OMIM:612394
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Cutis marmorata, Angina pectoris, Telangiectasia, Intracranial hemorrhag... ORPHA:109
Melas
Proteinuria, Increased serum lactate, Nephropathy, Lactic acidosis, Focal segmental glomeruloscle... ORPHA:550
Aregenerative Anemia
Abnormal bleeding, Dyspnea, Bruising susceptibility, Pallor ORPHA:101096
Meacham Syndrome
Accessory spleen, Death in infancy, Congenital alveolar dysplasia, Aplasia of the right hemidiaph... OMIM:608978
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Hypertension, Abnormality of the pancreas, Cryptorchidism ORPHA:1555
Pericardial And Diaphragmatic Defect
Hypoxemia, Neonatal respiratory distress ORPHA:2847
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Hypoplasia of penis ORPHA:990
Noonan Syndrome 13
Duplicated collecting system, Cryptorchidism, Dry skin, Mitral regurgitation, Bruising susceptibi... OMIM:619087
Hereditary Fructose Intolerance
Metabolic acidosis, Renal insufficiency, Chronic kidney disease ORPHA:469
Chronic Bilirubin Encephalopathy
Central apnea ORPHA:529808
Acute Bilirubin Encephalopathy
Central apnea ORPHA:529799
Lissencephaly 7 With Cerebellar Hypoplasia
Increased serum lactate OMIM:616342
Spondyloepimetaphyseal Dysplasia, Krakow Type
Allergic rhinitis, Elbow contracture, Patent ductus arteriosus, Asthma, Knee flexion contracture,... OMIM:618162
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Bladder diverticulum, Bruising susceptibility, Fragile skin OMIM:617821
Ehlers-Danlos Syndrome, Classic-Like, 2
Prominent superficial veins, Prematurely aged appearance, Redundant skin, Poor wound healing, Cry... OMIM:618000
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Increased serum lactate, Micropenis OMIM:618810
Neuroleptic Malignant Syndrome
Proteinuria, Urinary incontinence, Pulmonary embolism, Metabolic acidosis, Aspiration pneumonia, ... ORPHA:94093
Glycogen Storage Disease Ib
Proteinuria, Nephrolithiasis, Lactic acidosis, Focal segmental glomerulosclerosis, Enlarged kidne... OMIM:232220
Glycerol Kinase Deficiency
Ketoacidosis, Increased urinary glycerol, Metabolic acidosis OMIM:307030
Noonan Syndrome 14
Aortic regurgitation, Scapular winging, Cryptorchidism, Dry skin, Pulmonic stenosis, Hypertrophic... OMIM:619745
Shprintzen-Goldberg Syndrome
Apnea ORPHA:2462
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Hypertension, Bruising susceptibility, Striae distensae OMIM:610489
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Redundant skin, Spontaneous neonatal pneumothorax, Gingival bleeding, Bruising susceptibility, Fr... OMIM:225410
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Congenital diaphragmatic hernia OMIM:606164
Combined Oxidative Phosphorylation Defect Type 13
Increased serum lactate ORPHA:319514
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Hepatomegaly, Pulmonary fibrosis, Splenomegaly OMIM:612852
Williams-Beuren Syndrome
Recurrent urinary tract infections, Renal insufficiency, Abnormal renal morphology, Urethral sten... OMIM:194050
Gaisböck Syndrome
Nephrocalcinosis, Dyspnea, Hypernatriuria ORPHA:90041
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Fetal pyelectasis ORPHA:50810
Primary Dystonia, Dyt4 Type
Respiratory distress, Torticollis ORPHA:98805
Childhood-Onset Spasticity With Hyperglycinemia
Increased serum lactate ORPHA:401866
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility ORPHA:49042
Kniest Dysplasia
Respiratory distress, Hip contracture, Tracheomalacia OMIM:156550
Williams Syndrome
Recurrent urinary tract infections, Hypoplasia of penis, Renal insufficiency, Proteinuria, Urethr... ORPHA:904
Muscular Dystrophy, Duchenne Type
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... OMIM:310200
Loeys-Dietz Syndrome 4
Torticollis, Pneumothorax, Emphysema, Bruising susceptibility, Striae distensae OMIM:614816
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Myositis, Orchitis, Recurrent pharyngitis, Splenomegaly, Vasculitis, Erythema, Peri... ORPHA:32960
Oromandibular Dystonia
Respiratory distress, Torticollis ORPHA:93958
Japanese Encephalitis
Respiratory distress, Skeletal muscle atrophy, Pulmonary edema, Facial palsy, Elbow flexion contr... ORPHA:79139
Sudden Cardiac Failure, Infantile
Metabolic acidosis OMIM:617222
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Skeletal muscle atrophy, Tricuspid regurgitation, Patent ductus arteriosus, Cutis laxa, Bladder d... OMIM:614557
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Respiratory distress, Tricuspid regurgitation, Hypospadias, Congenital... ORPHA:2556
Pseudohypoaldosteronism, Type Iie
Metabolic acidosis, Hyperchloremic metabolic acidosis OMIM:614496
Chediak-Higashi Syndrome
Spontaneous, recurrent epistaxis, Hepatomegaly, Splenomegaly, Jaundice, Bruising susceptibility, ... OMIM:214500
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Increased serum lactate, Heparan sulfate excretion in urine, 3-Methylglutac... OMIM:615273
Multiple Endocrine Neoplasia Type 1
Hypercalciuria, Nephrolithiasis ORPHA:652
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Lactic acidosis, Increased serum lactate OMIM:617710
Bilateral Perisylvian Polymicrogyria
Aspiration, Apnea ORPHA:98889
Achondroplasia
Respiratory distress, Death in infancy, Upper airway obstruction, Pulmonary hypoplasia OMIM:100800
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased serum lactate, Metabolic acidosis OMIM:618528
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Renal agenesis, Anemic pallor, Ectopic kidney, Cryptorchidism, Abno... OMIM:227650
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Central apnea, Hyperventilation ORPHA:522077
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, Polysplenia, Pulm... OMIM:616749
Addison Disease
Decreased urinary potassium, Hyperkalemic metabolic acidosis, Renal salt wasting ORPHA:85138
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Renal agenesis, Anemic pallor, Ectopic kidney, Cryptorchidism, Hors... OMIM:600901
Peroxisome Biogenesis Disorder 12A (Zellweger)
Renal tubular dysfunction OMIM:614886
Rh Deficiency Syndrome
Hypoxemia, Tachypnea ORPHA:71275
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Recurrent upper respiratory tract inf... ORPHA:293987
Developmental And Epileptic Encephalopathy 51
Elevated lactate:pyruvate ratio, Increased serum lactate OMIM:617339
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Scapular winging, Progeroid facial appearance, Hypertension,... OMIM:616914
Thyrotoxic Periodic Paralysis
Urinary retention, Respiratory paralysis, Decreased urinary potassium ORPHA:79102
Lymphatic Malformation 7
Respiratory distress, Pleural effusion, Chylothorax, Pulmonary edema OMIM:617300
Glycogen Storage Disease Ixc
Increased serum lactate, Lactic acidosis OMIM:613027
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Ureteral duplication, Congenital diaphragmatic hernia, Pulmonary artery ste... ORPHA:2255
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Abnormality of the upper urinary tract, Renal tubular dysfunction, Glycosuria, Moderat... ORPHA:99885
Combined Oxidative Phosphorylation Deficiency 27
Increased serum lactate, Hyperammonemia OMIM:616672
Pancreatic And Cerebellar Agenesis
Apnea OMIM:609069
Methanol Poisoning
Metabolic acidosis ORPHA:31825
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Neonatal respiratory distress, Apnea, Unilateral renal agenesis, Asthma, Urinary urgency, Aspirat... OMIM:619503
Meier-Gorlin Syndrome 1
Respiratory distress, Death in infancy, Cryptorchidism, Emphysema, Flexion contracture, Camptodac... OMIM:224690
Peroxisome Biogenesis Disorder 1A (Zellweger)
Neonatal respiratory distress, Hypospadias, Albuminuria, Aminoaciduria, Renal cortical microcysts... OMIM:214100
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Renal agenesis, Anemic pallor, Ectopic kidney, Cryptorchidism, Flex... OMIM:227645
Behçet Disease
Aortic regurgitation, Glomerulopathy, Renal insufficiency, Gastrointestinal hemorrhage, Pericardi... ORPHA:117
Immunodeficiency With Hyper-Igm, Type 1
Hypoxemia OMIM:308230
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hypoxemia ORPHA:456312
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Cutis marmorata, Raynaud phenomenon, Dry skin, Micropenis,... ORPHA:51
Fanconi Anemia, Complementation Group D2
Duplicated collecting system, Renal agenesis, Anemic pallor, Ectopic kidney, Cryptorchidism, Pate... OMIM:227646
Laubry-Pezzi Syndrome
Aortic regurgitation, Mildly reduced left ventricular ejection fraction, Congestive heart failure... ORPHA:99094
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Metabolic acidosis OMIM:620126
Autosomal Recessive Malignant Osteopetrosis
Recurrent respiratory infections, Hepatomegaly, Apnea, Splenomegaly, Pulmonary artery stenosis, P... ORPHA:667
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Facial hypotonia ORPHA:438216
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Metabolic acidosis OMIM:620125
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Recurrent urinary tract infections, Neona... OMIM:616268
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central apnea ORPHA:98754
Plague
Abnormal bleeding, Respiratory distress, Tachycardia, Hepatomegaly, Hematemesis, Splenomegaly, Sk... ORPHA:707
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central apnea ORPHA:98793
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Respiratory distress, Respiratory failure requiring assisted ventilati... ORPHA:95455
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central apnea ORPHA:177904
Brittle Cornea Syndrome 2
Bruising susceptibility OMIM:614170
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central apnea ORPHA:177901
Marshall-Smith Syndrome
Bruising susceptibility ORPHA:561
Congenital Short Bowel Syndrome
Metabolic acidosis OMIM:615237
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Cerebral hemorrhage, Poor wound healing, Subdural hemorrhage, Arterial r... ORPHA:536545
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Vesicoureteral reflux, Metabolic acidosis OMIM:615895
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections, Patent ductus arteriosus, Abnormality of ... ORPHA:177907
Pearson Syndrome
Elevated lactate:pyruvate ratio, Renal insufficiency, Proteinuria, Increased serum lactate, Lacti... ORPHA:699
Pitt-Hopkins Syndrome
Cryptorchidism, Micropenis, Acrocyanosis, Abnormal pattern of respiration, Hyperventilation ORPHA:2896
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Respiratory distress, Abnormality of the kidney, Unilateral renal ag... ORPHA:508488
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Increased serum lactate ORPHA:438114
Menkes Disease
Gastrointestinal hemorrhage, Aplasia/Hypoplasia of the abdominal wall musculature, Intracranial h... ORPHA:565
Spinocerebellar Ataxia, Autosomal Recessive 30
Increased serum lactate OMIM:619405
Autosomal Dominant Progressive External Ophthalmoplegia
Increased serum lactate, Nocturia, Respiratory insufficiency, Exertional dyspnea ORPHA:254892
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Increased serum lactate OMIM:609286
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Camptodactyly, Bruising susceptibility, Pulmonic stenosis, Dermal translucency OMIM:618343
Schinzel-Giedion Syndrome
Respiratory distress, Hypospadias, Recurrent pneumonia, Abnormality of the ureter, Nephrolithiasi... ORPHA:798
Osteogenesis Imperfecta, Type Xvi
Prolonged bleeding time, Bruising susceptibility OMIM:616229
Chédiak-Higashi Syndrome
Abnormal bleeding, Recurrent respiratory infections, Epistaxis, Splenomegaly, Jaundice, Hepatospl... ORPHA:167
Stüve-Wiedemann Syndrome
Respiratory distress, Asthma, Apnea ORPHA:3206
Optic Atrophy 11
Increased serum lactate OMIM:617302
Ear-Patella-Short Stature Syndrome
Respiratory distress, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Epispadias, Dysp... ORPHA:2554
Slc39A8-Cdg
Sudden episodic apnea ORPHA:468699
Dehydrated Hereditary Stomatocytosis
Portal vein thrombosis, Splenomegaly, Intermittent jaundice, Pulmonary venous hypertension, Chole... ORPHA:3202
Adnp Syndrome
Respiratory distress, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, R... ORPHA:404448
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea ORPHA:2751
Combined Oxidative Phosphorylation Deficiency 7
Increased serum lactate OMIM:613559
Autoimmune Lymphoproliferative Syndrome
Abnormal bleeding, Hepatomegaly, Renal insufficiency, Glomerulonephritis, Hypersplenism, Splenome... ORPHA:3261
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ketonuria, Hypospadias, Increased serum lactate, Tachypnea, Hyperammonemia, Lactic acidosis, Seve... OMIM:220111
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Metabolic acidosis OMIM:177735
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydronephrosis OMIM:617913
Loeys-Dietz Syndrome 5
Reduced subcutaneous adipose tissue, Scapular winging, Decreased muscle mass, Mitral regurgitatio... OMIM:615582
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Restrictive ventilatory defect OMIM:183900
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis, Cystocele, Apnea ORPHA:285
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Hepatomegaly, Biliary hyperplasia, Cryptorchidism, Contracture of the dista... ORPHA:83617
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Spastic Tetraplegia And Axial Hypotonia, Progressive
Increased serum lactate OMIM:618598
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles, Dry skin OMIM:305100
Ramos-Arroyo Syndrome
Respiratory distress, Patent ductus arteriosus ORPHA:1051
Brittle Cornea Syndrome
Bruising susceptibility, Pulmonic stenosis, Camptodactyly ORPHA:90354
Cranioectodermal Dysplasia 1
Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubulointerstiti... OMIM:218330
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Familial Chylomicronemia Syndrome
Acute pancreatitis, Pulmonary embolism, Jaundice, Hepatosplenomegaly, Recurrent pancreatitis, Hep... ORPHA:444490
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Horseshoe kidney OMIM:617088
Chronic Visceral Acid Sphingomyelinase Deficiency
Progressive pulmonary function impairment, Respiratory failure requiring assisted ventilation, Ab... ORPHA:77293
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Increased serum lactate ORPHA:521411
Bethlem Myopathy
Hypoventilation, Reduced maximal expiratory pressure ORPHA:610
Neonatal Marfan Syndrome
Neonatal respiratory distress, Emphysema, Hypoxemia ORPHA:284979
Andersen-Tawil Syndrome
Renal tubular dysfunction, Renal hypoplasia ORPHA:37553
Rubinstein-Taybi Syndrome 1
Respiratory distress, Accessory spleen, Hypospadias, Respiratory tract infection, Bilateral crypt... OMIM:180849
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure,... ORPHA:258
Alkaptonuria
Aminoaciduria, Nephrolithiasis ORPHA:56
Alström Syndrome
Respiratory distress, Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of ... ORPHA:64
Noonan Syndrome 3
Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Hypertrophic cardiomyopathy, Bruisin... OMIM:609942
Osteoglophonic Dysplasia
Respiratory distress, Hypospadias, Camptodactyly of finger, Cryptorchidism, Chordee OMIM:166250
Alobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93924
Semilobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:220386
Vici Syndrome
Acidosis, Penile hypospadias OMIM:242840
Rabin-Pappas Syndrome
Tracheomalacia, Hypoventilation OMIM:620155
Congenital Disorder Of Glycosylation, Type Iib
Hypoventilation OMIM:606056
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hypoventilation, Recurrent pneumonia OMIM:618493
Combined Oxidative Phosphorylation Defect Type 39
Increased serum lactate ORPHA:565624
Combined Oxidative Phosphorylation Deficiency 15
Increased serum lactate, Respiratory arrest OMIM:614947
Lipodystrophy, Familial Partial, Type 7
Pulmonary arterial hypertension, Pleural effusion, Spontaneous pneumothorax, Polyuria OMIM:606721
Combined Oxidative Phosphorylation Deficiency 12
Lactic acidosis, Increased serum lactate OMIM:614924
Pancreatic Agenesis-Holoprosencephaly Syndrome
Hypoxemia ORPHA:556955
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Dilatation of renal calices, Asthma, Pelvic kidney, Nasal flaring ORPHA:466943
Meester-Loeys Syndrome
Poor wound healing, Camptodactyly, Pulmonary artery aneurysm, Joint contracture, Bruising suscept... OMIM:300989
Wars2-Related Combined Oxidative Phosphorylation Defect
Lactic acidosis, Increased serum lactate ORPHA:572798
Prader-Willi Syndrome
Hypoventilation, Micropenis OMIM:176270
Occipital Horn Syndrome
Orthostatic hypotension, Redundant skin, Ureteral obstruction, Bladder diverticulum, Bruising sus... OMIM:304150
X-Linked Intellectual Disability, Armfield Type
Aminoaciduria, Organic aciduria, Galactosuria ORPHA:85276
Zttk Syndrome
Polyuria, Unilateral renal agenesis, Horseshoe kidney OMIM:617140
Classical-Like Ehlers-Danlos Syndrome Type 2
Cryptorchidism, Bruising susceptibility, Redundant skin, Prominent veins on trunk ORPHA:536532
Osteogenesis Imperfecta, Type I
Bruising susceptibility OMIM:166200
Loeys-Dietz Syndrome
Abnormal bleeding, Cardiac arrest, Camptodactyly of finger, Patent ductus arteriosus, Bruising su... ORPHA:60030
Noonan Syndrome 1
Abnormal bleeding, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Dry skin, Chylothorax, ... OMIM:163950
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Increased serum lactate OMIM:610131
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Increased serum lactate, Respiratory insufficiency OMIM:607459
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased serum lactate ORPHA:70595
Combined Oxidative Phosphorylation Deficiency 29
Increased serum lactate OMIM:616811
Liver Disease, Severe Congenital
Recurrent urinary tract infections, Hypospadias, Pneumonia, Hyperammonemia, Metabolic acidosis, A... OMIM:619991
Combined Oxidative Phosphorylation Deficiency 39
Increased serum lactate OMIM:618397
Ulbright-Hodes Syndrome
Abnormal penis morphology, Respiratory distress, Cryptorchidism, Pneumothorax, Renal hypoplasia, ... ORPHA:3404
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Renal dysplasia, Respiratory distress, Cyst of the ductus choledochus, Patent ductus arteriosus, ... ORPHA:480880
Mitochondrial Complex I Deficiency, Nuclear Type 28
Increased serum lactate OMIM:618249
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Increased serum lactate OMIM:618321
Combined Oxidative Phosphorylation Defect Type 29
Increased serum lactate ORPHA:478029
Vascular Ehlers-Danlos Syndrome
Abnormal bleeding, Hypospadias, Telangiectasia of the skin, Transient ischemic attack, Prematurel... ORPHA:286
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Atrial fibrillation, Camptodactyly of finger, Patent ductus arteriosus, Mit... ORPHA:284984
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Respiratory distress, Nephrocalcinosis, Abnorm... ORPHA:79500
Pmm2-Cdg
Respiratory distress, Pericarditis, Multiple joint contractures, Angina pectoris, Proteinuria, Ab... ORPHA:79318
Loeys-Dietz Syndrome 3
Atrial fibrillation, Subarachnoid hemorrhage, Patent ductus arteriosus, Cystocele, Pneumothorax, ... OMIM:613795
Coffin-Lowry Syndrome
Mitral regurgitation, Acrocyanosis, Cutis marmorata, Cutis laxa OMIM:303600
Viss Syndrome
Epidural hemorrhage, Prominent superficial blood vessels, Dyspnea, Asthma, Pneumothorax, Patent d... OMIM:619472
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased serum lactate OMIM:157640
Multiple Osteochondromas
Pneumothorax, Urinary retention, Hemothorax ORPHA:321
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress OMIM:119600
Hereditary Sensory And Autonomic Neuropathy Type 4
Chronic kidney disease, Dry skin, Syncope, Bruising susceptibility, Recurrent aspiration pneumoni... ORPHA:642
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Renal insufficiency, Increased serum lactate, Asthma, Dilatation of the renal pelvis,... OMIM:619534
Charcot-Marie-Tooth Disease Type 4C
Hypoventilation, Respiratory insufficiency ORPHA:99949
Occipital Horn Syndrome
Recurrent urinary tract infections, Jaundice, Hepatitis, Cholestasis, Bladder diverticulum, Bruis... ORPHA:198
Isolated Arrhinia
Respiratory distress ORPHA:1134
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Multiple joint contractures, Unilateral renal agenesis, Recurrent pneumonia... ORPHA:99646
Immunodeficiency 87 And Autoimmunity
Metabolic acidosis, Pulmonary arterial hypertension, Pleural effusion OMIM:619573
Pallister-Killian Syndrome
Hypospadias, Renal cyst, Apneic episodes in infancy, Renal dysplasia, Hyperventilation OMIM:601803
Carney Complex
Neoplasm of the pancreas, Dorsocervical fat pad, Testicular neoplasm, Hepatocellular carcinoma, C... ORPHA:1359
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Increased serum lactate OMIM:619418
Cerebrotendinous Xanthomatosis
Increased serum lactate ORPHA:909

Histopathology

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

There is no histopathology data for Gpr4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gpr4.

No publications found that use IMPC mice or data for Gpr4.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Gpr4tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gpr4tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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