Leiomyomatosis, diffuse, with alport syndrome

Preferred Label : Leiomyomatosis, diffuse, with alport syndrome;

Symbol : DL-ATS;

CISMeF acronym : ATS-DL; DL-ATS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Chromosome xq22.3 centromeric deletion syndrome; Leiomyomatosis, esophageal and vulval, with nephropathy; Alport syndrome and diffuse leiomyomatosis; ATS-DL;

Inheritance : X-linked;

Molecular basis : Contiguous gene syndrome involving deletions of the collagen, type IV, alpha-5 (COL4A5, 303630) and collagen, type IV, alpha-6 (COL4A6, 303631) genes;

Laboratory abnormalities : Hematuria, gross and microscopic; Proteinuria;

Prefixed ID : #308940;

Details

Origin ID

308940;

UMLS CUI

C1839884;

Automatic exact mappings (from CISMeF team)
- Leiomyomatosis, esophageal and vulval, with nephropathy [MeSH concept]
Currated CISMeF NLP mapping
- Alport syndrome, X-linked diffuse leiomyomatosis [ICD-11 More detail]
- X-linked Alport syndrome-diffuse leiomyomatosis [ORDO Disease]
- X-linked diffuse leiomyomatosis with Alport syndrome (disorder) [SNOMED CT concept]
- diffuse leiomyomatosis with Alport syndrome [Disease (Nov.)]
- leiomyomatosis, esophageal and vulval, with nephropathy [MeSH Supplementary Concept]
HPO term(s)
- Abnormal renal physiology [HPO term]
- Abnormality of renal physiology [HPO term]
- Anterior lenticonus [HPO term]
- Cataract [HPO term]
- Constipation [HPO term]
- Diffuse leiomyomatosis [HPO term]
- Dysphagia [HPO term]
- Dyspnea [HPO term]
- Failure to thrive [HPO term]
- Glomerular basement membrane lamellation [HPO term]
- Hematuria [HPO term]
- High-frequency sensorineural hearing impairment [HPO term]
- Lenticonus [HPO term]
- Nephropathy [HPO term]
- Proteinuria [HPO term]
- Renal insufficiency [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Thickened glomerular basement membrane [HPO term]
- Tracheobronchial leiomyomatosis [HPO term]
- Vomiting [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- X-linked Alport syndrome-diffuse leiomyomatosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leiomyomatosis, esophageal and vulval, with nephropathy [MeSH concept]
- X-linked Alport syndrome-diffuse leiomyomatosis [ORDO Disease]
- diffuse leiomyomatosis with Alport syndrome [Disease (Nov.)]
- leiomyomatosis, esophageal and vulval, with nephropathy [MeSH Supplementary Concept]

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