Thymic-renal-anal-lung dysplasia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 33 |
| OrphanetNr: | 3326 |
| OMIM Id: |
274265
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| ICD-10: |
Q87.8 |
| UMLs: |
C1848812 |
| MeSH: |
C536907 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 3 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis Syndromic renal or urinary tract malformation -Rare developmental defect during embryogenesis -Rare genetic disease -Rare renal disease |
Symptom Information:
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(HPO:0000089) | Renal hypoplasia | 78 / 7739 | ||||
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(HPO:0000104) | Renal agenesis | 68 / 7739 | ||||
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(HPO:0000107) | Renal cyst | Very frequent [Orphanet] | 126 / 7739 | |||
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(HPO:0012300) | Ureteral agenesis | 2 / 7739 | ||||
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(HPO:0010958) | Bilateral renal agenesis | 16 / 7739 | ||||
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(HPO:0000079) | Abnormality of the urinary system | Very frequent [Orphanet] | 88 / 7739 | |||
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(HPO:0008678) | Renal hypoplasia/aplasia | Very frequent [Orphanet] | 127 / 7739 | |||
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(HPO:0000130) | Abnormality of the uterus | Very frequent [Orphanet] | 86 / 7739 | |||
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(HPO:0008631) | Ureteral dysgenesis | 1 / 7739 | ||||
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(HPO:0012368) | Flat face | Very frequent [Orphanet] | 106 / 7739 | |||
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(HPO:0000436) | Abnormality of the nasal tip | Very frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0100720) | Hypoplasia of the ear cartilage | Very frequent [Orphanet] | 12 / 7739 | |||
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(HPO:0000357) | Abnormal location of ears | Very frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0000828) | Abnormality of the parathyroid gland | Very frequent [Orphanet] | 6 / 7739 | |||
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(HPO:0000818) | Abnormality of the endocrine system | 26 / 7739 | ||||
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(HPO:0001562) | Oligohydramnios | Very frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0002566) | Intestinal malrotation | Very frequent [Orphanet] | 89 / 7739 | |||
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(HPO:0002023) | Anal atresia | Very frequent [Orphanet] | 135 / 7739 | |||
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(HPO:0001511) | Intrauterine growth retardation | Very frequent [Orphanet] | 358 / 7739 | |||
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(HPO:0001231) | Abnormality of the fingernails | Very frequent [Orphanet] | 116 / 7739 | |||
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(HPO:0001800) | Hypoplastic toenails | Very frequent [Orphanet] | 74 / 7739 | |||
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(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
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(HPO:0002101) | Abnormal lung lobation | Very frequent [Orphanet] | 33 / 7739 | |||
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(HPO:0006703) | Aplasia/Hypoplasia of the lungs | Very frequent [Orphanet] | 79 / 7739 | |||
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(HPO:0002086) | Abnormality of the respiratory system | 17 / 7739 | ||||
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(HPO:0010515) | Aplasia/Hypoplasia of the thymus | Very frequent [Orphanet] | 17 / 7739 | |||
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(OMIM) | Ureteral agenesis/dysgenesis | 1 / 7739 | ||||
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(OMIM) | Low amniotic fluid disaccharidases | 1 / 7739 | ||||
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(OMIM) | Unilobed or absent thymus | 1 / 7739 | ||||
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(OMIM) | Cystic renal mass | 1 / 7739 | ||||
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(OMIM) | Unilobed lung | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0011420) | Death | Very frequent [Orphanet] | 184 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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