Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
v-maf musculoaponeurotic fibrosarcoma oncogene family, protein B (avian)
Synonyms:
Kreisler,  Krml,  Krml1

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Mafb mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Bilateral renal atrophy, Proteinuria, Stage 5 chronic kidney disease OMIM:166300
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia, Nephropathy, Proteinuria ORPHA:2774
Duane Retraction Syndrome
Sensorineural hearing impairment, Blepharospasm, Stenosis of the external auditory canal, Externa... ORPHA:233
Duane Retraction Syndrome 3 With Or Without Deafness
Hearing impairment OMIM:617041

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Nephrotic Syndrome, Type 23
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... OMIM:619201
Nephrotic Syndrome, Type 24
Focal segmental glomerulosclerosis, Podocyte foot process effacement, Renal cortical hyperechogen... OMIM:619263
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:301028
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... OMIM:618178
Nephrotic Syndrome, Type 21
Podocyte foot process effacement, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, St... OMIM:618594
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... OMIM:256020
Nephrotic Syndrome, Type 4
Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Focal segmental glomeruloscleros... OMIM:256370
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi... OMIM:618176
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:616893
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndrome, Hematuria, Focal segmental glo... OMIM:616892
Focal Segmental Glomerulosclerosis 2
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... OMIM:603965
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency OMIM:607832
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Cholesterol Pneumonia
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia OMIM:215030
Focal Segmental Glomerulosclerosis 6
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... OMIM:614131
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis OMIM:614650
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:615573
Lipoprotein Glomerulopathy
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria OMIM:611771
Glaucoma-Sleep Apnea Syndrome
Sleep apnea, Respiratory insufficiency ORPHA:2085
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Low-molecular-weight proteinuria,... OMIM:310468
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Nephrotic Syndrome, Type 3
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... OMIM:610725
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Nephrotic syndrome, Renal insufficiency, Diffuse mesangial sclerosis OMIM:249660
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612925
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Aminoaciduria, Renal tubular atrophy, Hyposthenuria, Glycosuria, Hypercalciuria, Low-molecular-we... OMIM:308990
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:600995
Proteinuria, Chronic Benign
Renal insufficiency, Albuminuria, Proteinuria OMIM:618884
Cyanosis And Hepatic Disease
Dyspnea, Cyanosis OMIM:219400
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612922
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612926
Phosphoserine Aminotransferase Deficiency
Apnea, Death in infancy, Cyanotic episode OMIM:610992
Apnea, Central Sleep
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration OMIM:207720
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis OMIM:614196
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Nephrotic Syndrome, Type 22
Nephrotic syndrome, Nephrotic range proteinuria, Thickened glomerular basement membrane, Podocyte... OMIM:619155
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Hyper... OMIM:161900
Oculorenocerebellar Syndrome
Nephropathy, Glomerular sclerosis OMIM:257970
Mitochondrial Complex I Deficiency, Nuclear Type 13
Apnea, Death in infancy OMIM:618235
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Elevated c... OMIM:614723
Lethal Congenital Contracture Syndrome 3
Respiratory insufficiency, Neonatal death OMIM:611369
Laryngotracheal Angioma
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Nephronophthisis 13
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... OMIM:614377
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea OMIM:611722
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Nephrotic Syndrome, Type 8
Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Thin glomer... OMIM:615244
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Parana Hard-Skin Syndrome
Respiratory insufficiency OMIM:260530
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Respiratory insufficiency OMIM:617232
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Renal insufficiency, Proteinuria, Micro... OMIM:601894
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:603278
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory insufficiency, Respiratory failure OMIM:613869
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... OMIM:619274
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Apnea, Abnormal brainstem morphology ORPHA:99852
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glomerulosclerosis, Protein... OMIM:618349
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Tracheopathia Osteoplastica
Dyspnea, Wheezing, Recurrent pneumonia, Cough OMIM:189961
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Cough, Tachypnea, Respiratory failure OMIM:263000
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Renal insuffici... OMIM:254900
Pontocerebellar Hypoplasia Type 4
Central apnea, Respiratory failure requiring assisted ventilation, Olivopontocerebellar hypoplasi... ORPHA:166063
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... OMIM:137950
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure OMIM:619773
Iga Nephropathy, Susceptibility To, 3
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chr... OMIM:616818
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death OMIM:301021
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Elevated ... ORPHA:567544
Joubert Syndrome 33
Apnea, Molar tooth sign on MRI OMIM:617767
Spinal Muscular Atrophy, Type I
Death in childhood, Respiratory insufficiency, Respiratory failure OMIM:253300
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Thickened glomerular basement membrane, Acute kidney injury, Proteinuria, Glo... OMIM:615008
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis OMIM:617609
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... ORPHA:976
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... OMIM:601331
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Elevated circulating creatinine concentration, Pur... OMIM:235400
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Nail-Patella-Like Renal Disease
Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria ORPHA:2613
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Hypoplasia of the pons, Respiratory failure, Hypoplasia of the brainstem OMIM:225753
Epilepsy, Early-Onset, Vitamin B6-Dependent
Apnea, Respiratory insufficiency OMIM:617290
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... OMIM:614817
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction ORPHA:141152
Nephrotic Syndrome, Type 16
Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Multiple Acyl-Coa Dehydrogenase Deficiency
Abnormal pinna morphology, Renal cortical cysts, Glycosuria, Neonatal death, Elevated circulating... OMIM:231680
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Iga Nephropathy, Susceptibility To, 2
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:613944
Nephrotic Syndrome, Type 11
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... OMIM:616730
Hemorrhagic Fever-Renal Syndrome
Melena, Decreased glomerular filtration rate, Hematuria, Elevated circulating creatinine concentr... ORPHA:340
Renal Tubular Dysgenesis
Anuria, Abnormality of the urinary system, Renotubular dysgenesis, Hypotension OMIM:267430
Genetic Steroid-Resistant Nephrotic Syndrome
Chronic kidney disease, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinu... ORPHA:656
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... OMIM:615861
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Nephronophthisis-Like Nephropathy 2
Polyuria, Elevated circulating creatinine concentration, Periglomerular fibrosis, Renal insuffici... OMIM:619468
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Bronchopulmonary Dysplasia
Respiratory distress, Hyperoxemia, Abnormal respiratory system physiology, Chronic lung disease, ... ORPHA:70589
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Small for gest... OMIM:256300
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Reduced forced vital capacity, Cough, Intercostal retractions, Ta... ORPHA:91359
Lethal Congenital Contracture Syndrome 4
Respiratory insufficiency OMIM:614915
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Respiratory failure, Death in infancy, Atrophy/Degeneration affecting the brainstem OMIM:616277
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Galloway-Mowat Syndrome 4
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Glo... OMIM:617730
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits ORPHA:69063
Succinic Acidemia
Respiratory distress OMIM:600335
Laryngeal Abductor Paralysis
Respiratory insufficiency ORPHA:2808
Bardet-Biedl Syndrome 10
Abnormality of the kidney, Renal cyst, Renal insufficiency OMIM:615987
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Hyperalaninemia, Increased serum pyruvate, Renal cortical cysts OMIM:617668
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Neuralgic Amyotrophy
Respiratory insufficiency, Acrocyanosis ORPHA:2901
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Cyanosis, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distress, Dysp... OMIM:265120
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease OMIM:617610
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure OMIM:616081
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... ORPHA:329918
Galloway-Mowat Syndrome 5
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Glomerular sclerosis OMIM:617731
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal... ORPHA:266
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Minimal ch... OMIM:301006
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Nonproductive cough, Cyanosis, Crackles, Wheezing, Cough, Restri... ORPHA:1302
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Cough, Respiratory failure requiring assisted ventilation, Dyspnea, Respira... ORPHA:90117
Galloway-Mowat Syndrome 10
Podocyte foot process effacement, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidne... OMIM:619609
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea OMIM:615228
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Hydrocephalus, Attention deficit hyperactivity disorder, Ataxia OMIM:618709
Pulmonary Blastoma
Dyspnea, Recurrent pneumonia, Cough ORPHA:64741
Laryngotracheoesophageal Cleft
Cyanosis, Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Stridor ORPHA:2004
Perching Syndrome
Respiratory distress OMIM:617055
Pyknoachondrogenesis
Stillbirth OMIM:265880
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Respiratory insufficiency OMIM:617892
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal glomerular visceral epithelial cell ... ORPHA:567548
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617006
Larynx Atresia
Respiratory insufficiency ORPHA:1202
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate OMIM:242530
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Respiratory insufficiency OMIM:617239
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear OMIM:618915
Congenital Pulmonary Veins Atresia Or Stenosis
Respiratory insufficiency ORPHA:3188
Bardet-Biedl Syndrome 16
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency, Recu... OMIM:615993
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Central Hypoventilation Syndrome, Congenital, 3
Central hypoventilation, Apnea, Respiratory failure OMIM:619483
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Myasthenic Syndrome, Congenital, 16
Apnea OMIM:614198
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Preeclampsia
Chronic kidney disease, Abnormality of the kidney, Elevated systolic blood pressure, Elevated cir... ORPHA:275555
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure OMIM:605711
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Galloway-Mowat Syndrome 7
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... OMIM:618348
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Tubulointerstitial Nephritis With Uveitis
Glomerulonephritis, Elevated circulating creatinine concentration, Acute tubulointerstitial nephr... OMIM:607665
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Neonatal death, Pulmonary arterial hypertension, Stil... OMIM:619751
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crackles, Acute infectious pneumonia, Respiratory failure requiring assiste... ORPHA:264675
Pontocerebellar Hypoplasia, Type 6
Apnea, Death in childhood, Atrophy/Degeneration affecting the brainstem OMIM:611523
Duplication Of Urethra
Bladder duplication, Chordee, Dysuria, Distal urethral duplication, Epispadias, Micropenis, Hyper... ORPHA:237
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Fraxe Intellectual Disability
Prominent ear helix, Clumsiness, Hyperactivity, Recurrent hand flapping, Stereotypical body rocking ORPHA:100973
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Iga Nephropathy, Susceptibility To, 1
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:161950
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep... OMIM:616963
Isolated Permanent Neonatal Diabetes Mellitus
Renal tubular dysfunction, Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, ... ORPHA:99885
Renal Tubular Acidosis, Distal, 1
Nephrolithiasis, Hypokalemia, Hypocalcemia, Distal renal tubular acidosis, Elevated circulating c... OMIM:179800
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:617805
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Apnea OMIM:300864
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:613913
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy, Attention deficit hyperactivity disorder OMIM:617787
Leukodystrophy, Hypomyelinating, 4
Apnea OMIM:612233
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Hypoxemia, Cyanosis, Neonatal death, Tachypnea, Cough, Death in infa... OMIM:610921
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Decreased body weight, Nephrotic syndrome, Proteinuria OMIM:618347
C3 Glomerulopathy 3
Renal insufficiency, Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy OMIM:604377
Galactosemia I
Increased level of galactitol in urine, Failure to thrive, Aminoaciduria, Galactosuria, Albuminuria OMIM:230400
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Decreased DLCO, Cough, Pneumonia, Restrictive ventilatory defect, Hypoxemia, Dyspnea OMIM:610910
Asbestos Intoxication
Oxygen desaturation on exertion, Reduced vital capacity, Hypoxemia, Nonproductive cough, Cyanosis... ORPHA:2302
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Ac... ORPHA:54370
Nephrotic Syndrome, Type 14
Nephrotic syndrome, Diffuse mesangial sclerosis, Micropenis, Focal segmental glomerulosclerosis, ... OMIM:617575
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Sensorineural hearing impairment, Elevated pulmonary artery pressure, Renal cortical hyperechogen... OMIM:619351
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo... OMIM:611555
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Renal Hypoplasia
Chronic kidney disease, Small for gestational age, Unilateral renal agenesis, Abnormal renal tubu... ORPHA:93101
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Nonpr... ORPHA:1303
Cryofibrinogenemia, Familial Primary
Acrocyanosis, Hematuria, Transient nephrotic syndrome OMIM:123540
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Elevated circulating creatinine con... ORPHA:79233
Mpdu1-Cdg
Absence of acoustic reflex, Elevated circulating creatine kinase concentration, Renal cortical cysts ORPHA:79323
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Cyanosis, Cough, Pleural effusion, Pulmonary... ORPHA:2414
Laryngeal Web, Familial
Respiratory distress, Stridor OMIM:150360
Infant Acute Respiratory Distress Syndrome
Cyanosis, Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring ORPHA:70587
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Respiratory insufficiency, Respiratory failure, Hypercapnia OMIM:267480
Monosodium Glutamate Sensitivity
Dyspnea, Flushing OMIM:231630
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Nephropathy OMIM:617056
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Bronchiectasis OMIM:619466
3-Methylglutaconic Aciduria, Type Viii
Apnea, Respiratory failure, Death in infancy OMIM:617248
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a... OMIM:611572
Joubert Syndrome 23
Apnea, Tachypnea OMIM:616490
Frasier Syndrome
Nephrotic syndrome, Nephroblastoma, Focal segmental glomerulosclerosis, Renal insufficiency, Prot... ORPHA:347
Hepatic Veno-Occlusive Disease
Respiratory failure, Jaundice ORPHA:890
Pneumocystosis
Hypoxemia, Nonproductive cough, Respiratory insufficiency, Interstitial pneumonitis, Acute infect... ORPHA:723
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Respiratory insufficiency, Respiratory failure, Restrictive ventilatory defect OMIM:614399
Fibronectin Glomerulopathy
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, G... ORPHA:84090
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:228940
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness OMIM:300717
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Respiratory insufficiency, Abnormal brainstem MRI signal intensity ORPHA:263410
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Hemoglobinuria, Myocardial infarction, Elevated circulating creatinine concentration... ORPHA:90038
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Abnormal renal corticomedullary differentiation, Elevated circulating creatinine... OMIM:616733
Vacterl Association With Hydrocephalus
Stillbirth, Respiratory insufficiency, Respiratory failure, Aqueductal stenosis OMIM:276950
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Cardiogenic Shock
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... ORPHA:97292
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, Hyperactivity ORPHA:436151
Recurrent Respiratory Papillomatosis
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Wheezing, T... ORPHA:60032
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Cyanosis, R... OMIM:610913
Joubert Syndrome 30
Apnea, Molar tooth sign on MRI, Tachypnea OMIM:617622
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Pleural Mesothelioma
Respiratory distress, Cough, Pleural effusion, Dyspnea, Abnormal respiratory system physiology ORPHA:50251
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Motor stereotypy, Hydrocephalus, Hyperactivity, Tremor, Spastic tetraparesis OMIM:619470
Senior-Loken Syndrome 1
Impaired renal concentrating ability, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Th... OMIM:266900
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Obesity, Hydronephrosis, Moderate albuminuria OMIM:619269
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... OMIM:618781
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated alpha-fetoprotein, Recurrent urinary tract infections, Multiple renal cysts... OMIM:613095
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Developmental And Epileptic Encephalopathy 61
Apnea OMIM:617933
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Abnormal renal physiology, Hematuria, Elevated circulating creatinine con... OMIM:123550
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress OMIM:619057
Alport Syndrome
Nephrotic syndrome, Renal glomerular foam cells, Nephritis, Mesangial hypercellularity, Thickenin... ORPHA:63
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Angioedema, Erythema, Upper airway obstruction ORPHA:100057
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Hyperactivity, Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears OMIM:609425
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Apneic episodes in infancy ORPHA:500545
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:608709
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Denys-Drash Syndrome
Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Nephropathy, Focal segmental glo... OMIM:194080
Joubert Syndrome 7
Episodic tachypnea, Tachypnea, Central apnea, Neonatal breathing dysregulation, Molar tooth sign ... OMIM:611560
Genetic Recurrent Myoglobinuria
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Arrhythmia, Oliguria, Hyperphosphatemia, Acute... ORPHA:99845
Aapoaiv Amyloidosis
Chronic kidney disease, Hyperlipidemia, Left bundle branch block, Abnormal renal medulla morpholo... ORPHA:439232
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration, Cough ORPHA:77260
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Hypergon... ORPHA:90646
Arthrogryposis Multiplex Congenita 6
Death in childhood, Respiratory failure, Neonatal death, Death in infancy OMIM:619334
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... ORPHA:254875
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Bronchospasm, Cardiorespiratory arrest, Abnormal pattern of respiration, Stridor OMIM:608800
Joubert Syndrome 9
Episodic tachypnea, Apnea, Molar tooth sign on MRI OMIM:612285
Yellow Fever
Supraventricular arrhythmia, Hyperbilirubinemia, Hematemesis, Excessive bleeding after a venipunc... ORPHA:99829
Hyperglycinemia, Lactic Acidosis, And Seizures
Apnea, Respiratory insufficiency OMIM:614462
Myasthenic Syndrome, Congenital, 24, Presynaptic
Apnea, Respiratory insufficiency OMIM:618198
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Respiratory insufficiency OMIM:616314
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Galloway-Mowat Syndrome 9
Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease OMIM:619603
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Opticocochleodentate Degeneration
Hearing impairment, Cochlear degeneration, Spastic tetraplegia OMIM:258700
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration, Ataxia OMIM:271250
Congenital Pulmonary Airway Malformation
Respiratory insufficiency ORPHA:2444
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Nephronophthisis 1
Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu... OMIM:256100
Acute Lung Injury
Respiratory distress, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure ORPHA:178320
Senior-Loken Syndrome 4
Polyuria, Nephronophthisis, Stage 5 chronic kidney disease OMIM:606996
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Combined Oxidative Phosphorylation Defect Type 23
Abnormal brainstem MRI signal intensity, Cyanosis, Respiratory failure, Paroxysmal dyspnea, Stridor ORPHA:444013
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Hematuria, Arrhythmia, Myocardial infarction, Renal insufficiency, Ac... ORPHA:54057
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Dent Disease
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Aminoaciduria, Non-acidotic pro... ORPHA:1652
Hereditary Neuropathy With Liability To Pressure Palsies
Respiratory insufficiency ORPHA:640
Mitochondrial Complex I Deficiency, Nuclear Type 10
Central hypoventilation, Apnea, Respiratory failure OMIM:618233
Mitochondrial Complex I Deficiency, Nuclear Type 14
Apnea OMIM:618236
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure, Central sleep apnea ORPHA:168486
Oligomeganephronia
Renal tubular atrophy, Decreased glomerular filtration rate, Unilateral renal agenesis, Bilateral... ORPHA:2260
Idiopathic Acute Eosinophilic Pneumonia
Abnormal pattern of respiration, Respiratory insufficiency, Restrictive ventilatory defect, Cough ORPHA:724
Familial Nasal Acilia
Respiratory distress, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Dyspnea ORPHA:922
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis OMIM:250800
Primary Pulmonary Hypoplasia
Apnea, Asthma, Cyanosis, Tachypnea, Pneumothorax, Abnormal breath sound, Restrictive ventilatory ... ORPHA:2257
Medullary cystic kidney disease 2
Renal tubular atrophy, Multiple renal cysts, Tubulointerstitial nephritis, Multiple small medulla... OMIM:603860
Nephronophthisis 4
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal corticomedu... OMIM:606966
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity DECIPHER:8
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Enlarged... OMIM:613496
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... ORPHA:36238
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Central hypoventilation, Apnea, Respiratory insufficiency OMIM:300673
Encephalopathy Due To Prosaposin Deficiency
Respiratory insufficiency, Death in infancy ORPHA:139406
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:614299
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory failure, Neonatal death, Respiratory insufficiency due to muscle weakness OMIM:611890
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... ORPHA:411703
Branchiootic Syndrome 1
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... OMIM:602588
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea OMIM:618225
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Choanal Atresia
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Chronic sinusitis... ORPHA:137914
Mitochondrial Phosphate Carrier Deficiency
Respiratory insufficiency, Cyanosis OMIM:610773
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Abnormal pons morphology, Respiratory failure ORPHA:370968
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy, Renal insufficiency,... ORPHA:1909
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology, Ataxia ORPHA:231183
Hyperekplexia 3
Apnea OMIM:614618
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Hypospadias, Proteinuria, Glomerulonephritis, Glomerular sclerosis OMIM:619428
Postsynaptic Congenital Myasthenic Syndromes
Reduced vital capacity, Cyanosis, Orthopnea, Restrictive ventilatory defect, Exertional dyspnea, ... ORPHA:98913
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Respiratory failure OMIM:313420
Intellectual Developmental Disorder, Autosomal Recessive 39
Motor stereotypy, Anteverted ears, Hyperactivity, Macrotia OMIM:615541
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Failure to thrive, Global glomerulosclerosis, Decreased glomerular filtration rate, Reduced renal... OMIM:602522
Nephronophthisis 3
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal insufficien... OMIM:604387
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Nephrotic range proteinuria, Hyperkalemia, Myocarditis, Oliguria, Acute kidney inju... ORPHA:544482
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Chronic rhinitis, Recurrent sinusit... OMIM:608647
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated creatine kinase after ... ORPHA:159
Harrod Syndrome
Renal cortical microcysts, Hypospadias, Macrotia OMIM:601095
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... ORPHA:254864
Hyperekplexia 4
Respiratory failure OMIM:618011
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Tachycardia, Arrhythmia, Hypotension, Elevated circulating creatinine concent... ORPHA:542323
Usher Syndrome Type 1
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology, Ataxia ORPHA:231169
Intellectual Developmental Disorder, X-Linked 104
Abnormal pinna morphology, Ataxia, Hyperactivity, Tremor, Spasticity OMIM:300983
Pendred Syndrome
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Vertigo, Hypoplasia of the cochle... ORPHA:705
Lassa Fever
Miscarriage, Abnormal bleeding, Oliguria, Shock, Hearing impairment ORPHA:99824
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements, Stereotypical hand wringing, Macrotia ORPHA:397933
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia ORPHA:2140
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cortical microcysts, Low-set ears, Renal cyst, Abnormal helix morphology OMIM:614866
Systemic Capillary Leak Syndrome
Abnormal renal tubule morphology, Arrhythmia, Myocarditis, Hypotension, Oliguria, Renal insuffici... ORPHA:188
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Hematuria, Proteinuria ORPHA:2134
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Malaria
Respiratory distress ORPHA:673
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Dyspnea, Pulmonary arterial hypertension, Decreased DLCO, Cough OMIM:234810
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Nephrotic syndrome, Proteinuria ORPHA:839
Circumvallate Placenta Syndrome
Respiratory insufficiency OMIM:215550
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Cyanosis, Hypoxemia ORPHA:464453
Myoclonus, Intractable, Neonatal
Apnea OMIM:617235
Auriculocondylar Syndrome 2
Apnea, Snoring OMIM:614669
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypovolemia, Arrhythmia, Cardiogenic... ORPHA:31824
Microscopic Polyangiitis
Subcutaneous hemorrhage, Arrhythmia, Hematuria, Vasculitis, Oliguria, Renal insufficiency, Glomer... ORPHA:727
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine, Hematuria, Weight loss, Proteinuria, Elevated urinary epinephrine, Ele... ORPHA:276621
C Syndrome
Low-set ears, Patent ductus arteriosus, Posteriorly rotated ears, Renal cortical cysts OMIM:211750
Renal Tubular Dysgenesis
Renotubular dysgenesis, Nephropathy, Multiple renal cysts, Proximal tubulopathy ORPHA:3033
Acute Interstitial Pneumonia
Hypoxemia, Nonproductive cough, Cyanosis, Crackles, Decreased DLCO, Tachypnea, Pleural effusion, ... ORPHA:79126
Nephronophthisis 16
Aortic valve stenosis, Nephronophthisis, Pulmonic stenosis, Enlarged kidney, Polycystic kidney dy... OMIM:615382
Peroxisome Biogenesis Disorder 1A (Zellweger)
Sensorineural hearing impairment, Abnormal helix morphology, Aminoaciduria, Elevated circulating ... OMIM:214100
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:2590
Leigh Syndrome
Focal substantia nigra T2 hyperintensity, Abnormal pattern of respiration, Respiratory insufficie... OMIM:256000
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Renal cyst OMIM:174050
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Apnea, Erythema, Neonatal death OMIM:610015
Meconium Aspiration Syndrome
Respiratory distress, Hypoxemia, Aspiration pneumonia, Wheezing, Pneumothorax, Neonatal asphyxia,... ORPHA:70588
Coenzyme Q10 Deficiency, Primary, 1
Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Glo... OMIM:607426
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Macroscopic hematuria, Focal segmental glomerulosclerosis, Microscopic he... ORPHA:567546
Mitochondrial Complex I Deficiency, Nuclear Type 5
Apnea, Respiratory insufficiency OMIM:618226
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Decreased DLCO, Cough, Restrictive ventilatory defect, Hypoxemia, Dyspnea ORPHA:747
Avian Influenza
Respiratory distress, Miscarriage, Nonproductive cough, Tachypnea, Cough, Pneumothorax, Productiv... ORPHA:454836
Mosaic Trisomy 1
Abnormal pinna morphology, Renal cortical cysts, Micropenis, Penile hypospadias, Renal cyst, Low-... ORPHA:1692
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in childhood, Respiratory insufficiency, Neonatal death, Death in infancy, Neonatal respira... OMIM:245400
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ... OMIM:618695
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress OMIM:615042
Joubert Syndrome 5
Impaired renal concentrating ability, Renal cortical cysts, Reduced renal corticomedullary differ... OMIM:610188
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, Hyperactivity, Tremor, Spasticity, Low-set ears OMIM:618718
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... OMIM:615605
Pauci-Immune Glomerulonephritis
Nephrotic range proteinuria, Decreased glomerular filtration rate, Macroscopic hematuria, Glomeru... ORPHA:93126
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Fanconi Anemia, Complementation Group O
Miscarriage, Neonatal death, Renal cyst, Death in infancy, Hydronephrosis, Stage 5 chronic kidney... OMIM:613390
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Deafness, X-Linked 2
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... OMIM:304400
Autism Spectrum Disorder Due To Auts2 Deficiency
Motor stereotypy, Hypertonia, Hyperactivity, Cerebral palsy, Attention deficit hyperactivity diso... ORPHA:352490
Myotonia, Potassium-Aggravated
Stridor, Apneic episodes in infancy OMIM:608390
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Apnea, Death in infancy OMIM:614498
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, St... OMIM:616307
Adult Acute Respiratory Distress Syndrome
Abnormal blood gas level, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure ORPHA:70578
Hypercalcemia, Infantile, 1
Nephrolithiasis, Aortic valve stenosis, Pulmonic stenosis, Polyuria, Hypercalciuria, Infantile hy... OMIM:143880
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Papillorenal Syndrome
Nephrolithiasis, Sensorineural hearing impairment, Chronic kidney disease, Absence of renal corti... OMIM:120330
Multiple Synostoses Syndrome 4
Otosclerosis OMIM:617898
Slc35A1-Cdg
Respiratory distress, Subcutaneous hemorrhage, Hypoxemia, Pneumonia ORPHA:238459
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal cortical cysts, Overfolded helix, Hypospadias, Hyperechogenic kidneys, Low-set, posteriorly... ORPHA:397715
Peroxisome Biogenesis Disorder 6A (Zellweger)
Low-set ears, Renal cyst OMIM:614870
Senior-Loken Syndrome 3
Nephronophthisis, Polyuria, Renal corticomedullary cysts, Enuresis, Stage 5 chronic kidney disease OMIM:606995
Intellectual Developmental Disorder, Autosomal Recessive 73
Recurrent hand flapping, Poor coordination, Gait ataxia, Low-set ears, Posteriorly rotated ears OMIM:619717
Myopathy, Congenital, Nonprogressive
Neonatal respiratory distress, Apneic episodes in infancy OMIM:619967
Breath-Holding Spells
Cyanosis OMIM:607578
Hereditary Methemoglobinemia
Exertional dyspnea, Cyanosis ORPHA:621
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory insufficiency, Respiratory failure OMIM:273730
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Renal hypoplasia, Elevated circulating creatinine concentra... OMIM:614376
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Supraventricular arrhythmia, Raynaud phenomenon, Nephropathy, Hematuria, Retinal hemorrhage, Rena... OMIM:611773
Diabetes Insipidus, Neurohypophyseal, X-Linked
Polyuria, Hypokalemia, Hydronephrosis OMIM:304900
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Cholera
Abnormality of renal excretion, Miscarriage, Hypokalemia, Hypocalcemia, Hypovolemic shock, Tachyc... ORPHA:173
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Congenital Disorder Of Glycosylation, Type Iiw
Failure to thrive, Membranoproliferative glomerulonephritis, Microscopic hematuria, Moderate albu... OMIM:619525
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Productive cough, Emphyse... ORPHA:60033
Cystic Hamartoma Of Lung And Kidney
Hypertension, Multicystic kidney dysplasia ORPHA:2111
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Ataxia, Slowed slurred speech, Cochlear degeneration, Progressive sensorineural hearing impairment OMIM:172500
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Jerky head movements, Involuntary movements, Postur... ORPHA:98807
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Petechiae, Renal tubular atrophy, Decreased glomerular filtration rate, Renal... ORPHA:85450
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Elevated systolic blood pressure, Decreased serum creatinine, Hypernatriuria, Hyponatremia, Decre... OMIM:300539
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Increased total bilirubin, Multiple renal cysts ORPHA:2924
Type 1 Diabetes Mellitus
Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Ciliary Dyskinesia, Primary, 21
Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Bronchiectasis, Neonatal respiratory ... OMIM:615294
Lambert Syndrome
Branchial anomaly ORPHA:1296
Pontocerebellar Hypoplasia, Type 16
Apnea, Hypoplasia of the pons OMIM:619527
Congenital Lethal Erythroderma
Respiratory insufficiency, Urticaria, Death in infancy ORPHA:1954
Relapsing Fever
Elevated circulating C-reactive protein concentration, Abnormal bleeding, Abnormality of the urin... ORPHA:91547
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Cough, Bronchiectasis, Dyspnea OMIM:613490
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Apnea OMIM:616896
2Q24 Microdeletion Syndrome
Central apnea ORPHA:1617
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress ORPHA:26792
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Vertigo, Ataxia, Abnormal head movements ORPHA:71518
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Hypoplasia of the semicircu... OMIM:611584
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Large fleshy ears, Hypertonia, Ataxia, Motor stereotypy, Overfolded helix, Myoclonus, Tremor, Gai... OMIM:619092
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Overfolded helix, Enlarged kidney, Elevated circulating creatinine concentration, Long-chain dica... OMIM:608836
Renal Glucosuria
Polyuria, Glycosuria, Enuresis nocturna OMIM:233100
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Oliguria, Renal insufficiency, Hypertensive crisis, Pulmonary arteria... ORPHA:220393
Asperger Syndrome, X-Linked, Susceptibility To, 2
Motor stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Motor stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Motor stereotypy OMIM:608631
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Nipah Virus Disease
Respiratory distress, Cough ORPHA:99825
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Hypoxemia, Nonproductive cough, Decreased ... ORPHA:79127
Intellectual Developmental Disorder, Autosomal Recessive 71
Motor stereotypy, Attention deficit hyperactivity disorder, Hyperactivity, Macrotia OMIM:618504
Xanthinuria, Type Ii
Nephrolithiasis, Increased circulating hypoxanthine concentration, Xanthinuria, Hyperxanthinemia,... OMIM:603592
Denys-Drash Syndrome
Nephroblastoma, Nephrotic syndrome, Nephropathy, Proteinuria ORPHA:220
Bor Syndrome
Abnormality of the middle ear ossicles, Renal hypoplasia/aplasia, Stenosis of the external audito... ORPHA:107
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Uplifted earlobe, Vesicoureteral reflux, Renal cortical cysts OMIM:618548
Interstitial Lung Disease 2
Decreased DLCO, Cough, Exertional dyspnea, Dyspnea, Pulmonary arterial hypertension OMIM:178500
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia OMIM:300928
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria OMIM:614231
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Recurrent hand flapping, Stereotypical body rocking, Poor coordination OMIM:309548
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Joubert Syndrome 3
Elongated superior cerebellar peduncle, Episodic tachypnea, Central apnea, Neonatal breathing dys... OMIM:608629
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy OMIM:606053
Coach Syndrome 2
Molar tooth sign on MRI, Apneic episodes in infancy OMIM:619111
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Pendred Syndrome
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Trismus OMIM:609166
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Attention deficit hyperactivity disorder, Low-set ears, Recurrent hand flapping OMIM:620021
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood OMIM:615597
Autism, Susceptibility To, X-Linked 3
Motor stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Motor stereotypy OMIM:300425
Autism
Motor stereotypy OMIM:209850
Autism, Susceptibility To, 8
Motor stereotypy OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy OMIM:608636
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine, Hematuria, Renal cell carcinoma, Weight loss, Proteinuria, Elevated ur... ORPHA:29072
Aicardi-Goutieres Syndrome 9
Failure to thrive, Micropenis, Recurrent urinary tract infections, Hyperechogenic kidneys, Thicke... OMIM:619487
Mitochondrial Complex I Deficiency, Nuclear Type 22
Respiratory insufficiency OMIM:618243
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea OMIM:619048
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Central apnea ORPHA:320385
Acute Monoblastic/Monocytic Leukemia
Oliguria, Progressive hearing impairment ORPHA:514
Hyperphosphatemia, Polyuria, And Seizures
Polyuria, Hyperphosphatemia OMIM:239350
Amyloidosis, Familial Visceral
Nephrotic syndrome, Nephropathy, Hematuria, Proteinuria OMIM:105200
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Respiratory failure OMIM:615330
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Absence of renal corticomedullary differentiation, Neonatal death, Hepatic cysts, Tubulointerstit... OMIM:263200
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Dent Disease 2
Chronic kidney disease, Aminoaciduria, Low-molecular-weight proteinuria, Hypercalciuria, Proximal... OMIM:300555
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Death in childhood, Respiratory failure, Atrophy/Degeneration affecting the brainstem, Tachypnea OMIM:615838
X-Linked Centronuclear Myopathy
Respiratory distress, Pneumonia, Respiratory failure requiring assisted ventilation ORPHA:596
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2668
Galloway-Mowat Syndrome 3
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Glo... OMIM:617729
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Posterior helix pit, Renal cortical cysts, Nephroblastoma, Enlarged kidney, Neph... OMIM:130650
Maculopapular Cutaneous Mastocytosis
Flushing, Dermatographic urticaria, Generalized abnormality of skin, Erythema, Darier's sign, Dys... ORPHA:79457
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Developmental And Epileptic Encephalopathy 99
Atrophy/Degeneration affecting the brainstem, Central apnea OMIM:619606
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dyspnea, Respiratory failure, Respiratory insufficiency due to muscle weakness ORPHA:352447
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Polyuria, Hypercalciuria, Increased circulating renin level, Hyponatremia, Medullary... OMIM:300971
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Hematuria OMIM:314000
Hyperprolinemia, Type I
Motor stereotypy, Ataxia, Hyperactivity OMIM:239500
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Decreased DLCO, Cough, Tachypnea, Restrictive ventilatory defect, Dyspnea OMIM:616414
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Nocturnal hypoventilation, Respiratory failure, Reduced vital capacity OMIM:603689
Thrombotic Thrombocytopenic Purpura, Hereditary