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Thymic-renal-anal-lung dysplasia

MedGen UID:
336425
•Concept ID:
C1848812
•
Congenital Abnormality; Disease or Syndrome
Synonym: Syndrome of unilobed or absent thymus, renal and ureter agenesis/dysgenesis, and intrauterine growth retardation (IUGR)
SNOMED CT: Thymic, renal, anal, lung dysplasia syndrome (723555007); Thymic-renal-anal-lung dysplasia (723555007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0010129
OMIM®: 274265
Orphanet: ORPHA3326

Definition

This syndrome has characteristics of intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus. It has been described in three girls born to a nonconsanguineous couple. [from SNOMEDCT_US]

Clinical features

From HPO
Renal agenesis
MedGen UID:
154237
•Concept ID:
C0542519
•
Congenital Abnormality
Agenesis, that is, failure of the kidney to develop during embryogenesis and development.
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Ureteral agenesis
MedGen UID:
868560
•Concept ID:
C4022959
•
Finding
Failure of the ureter to undergo development.
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Ureteral dysgenesis
MedGen UID:
870216
•Concept ID:
C4024653
•
Congenital Abnormality
A developmental anomaly of the ureter.
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Fetal growth restriction
MedGen UID:
4693
•Concept ID:
C0015934
•
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
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Imperforate anus
MedGen UID:
1997
•Concept ID:
C0003466
•
Congenital Abnormality
Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.
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Abnormality of the respiratory system
MedGen UID:
866322
•Concept ID:
C4018871
•
Anatomical Abnormality
An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.
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Abnormality of metabolism/homeostasis
MedGen UID:
867398
•Concept ID:
C4021768
•
Finding
See: Feature record | Search on this feature
Oligohydramnios
MedGen UID:
86974
•Concept ID:
C0079924
•
Pathologic Function
Diminished amniotic fluid volume in pregnancy.
See: Feature record | Search on this feature
Abnormality of the endocrine system
MedGen UID:
893021
•Concept ID:
C4025823
•
Anatomical Abnormality
An abnormality of the endocrine system.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVThymic-renal-anal-lung dysplasia
Follow this link to review classifications for Thymic-renal-anal-lung dysplasia in Orphanet.

Supplemental Content

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    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PubMed (OMIM)
      Related literature resources in PubMed

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