Renal tubular dysgenesis of genetic origin
- Synonyms
- Renal Tubular Dysgenesis, ACE-Related; Renal Tubular Dysgenesis, AGT-Related; Renal Tubular Dysgenesis, AGTR1-Related; Renal Tubular Dysgenesis, REN-Related
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Genes See tests for all associated and related genes
Also known as: ACE1, CD143, DCP, DCP1, ACE
Summary: angiotensin I converting enzymeAlso known as: ANHU, SERPINA8, hFLT1, AGT
Summary: angiotensinogenAlso known as: AG2S, AGTR1B, AT1, AT1AR, AT1B, AT1BR, AT1R, AT2R1, ATR1, HAT1R, AGTR1
Summary: angiotensin II receptor type 1Also known as: ADTKD4, HNFJ2, RTD, REN
Summary: renin
Clinical features
Help- Abnormality of head or neck
- Potter facies
Potter facies
- MedGen UID: 78614
- Concept ID: C0266619
- Finding: Congenital Abnormality
Abnormality of head or neck
- Potter facies
- Abnormality of prenatal development or birth
- Oligohydramnios
Oligohydramnios
- MedGen UID: 86974
- Concept ID: C0079924
- Finding: Pathologic Function
Abnormality of prenatal development or birth
- Oligohydramnios
- Abnormality of the cardiovascular system
- Hypotension
Hypotension
- MedGen UID: 5715
- Concept ID: C0020649
- Finding: Finding
Abnormality of the cardiovascular system
- Hypotension
- Abnormality of the genitourinary system
- Abnormality of the urinary system
Abnormality of the urinary system
- MedGen UID: 867444
- Concept ID: C4021821
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Anuria
Anuria
- MedGen UID: 358
- Concept ID: C0003460
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Renal tubular dysgenesis
Renal tubular dysgenesis
- MedGen UID: 82738
- Concept ID: C0266313
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Abnormality of the urinary system
- Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Widely patent fontanelles and sutures
Widely patent fontanelles and sutures
- MedGen UID: 336570
- Concept ID: C1849300
- Finding: Finding
Abnormality of the musculoskeletal system
- Microcephaly
- Abnormality of the respiratory system
- Pulmonary hypoplasia
Pulmonary hypoplasia
- MedGen UID: 78574
- Concept ID: C0265783
- Finding: Congenital Abnormality
Abnormality of the respiratory system
- Respiratory insufficiency
Respiratory insufficiency
- MedGen UID: 11197
- Concept ID: C0035229
- Finding: Pathologic Function
Abnormality of the respiratory system
- Pulmonary hypoplasia
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