Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome

Preferred Label : Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome;

Symbol : HDRS;

CISMeF acronym : HDR; HDRS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : HDR; Hypoparathyroidism, sensorineural deafness, and renal disease; Nephrosis, nerve deafness, and hypoparathyroidism; Barakat syndrome; Hdr syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the GATA-binding protein-3 gene (GATA3, 131320.0001);

Prefixed ID : #146255;

Details

Origin ID

146255;

UMLS CUI

C1840333;

Automatic exact mappings (from CISMeF team)
- GATA binding protein 3 [ORDO Gene]
- GATA binding protein 3 [HGNC gene]
- GATA3 wt Allele [NCIt concept]
- Hamilton rating scale for depression (assessment scale) [SNOMED CT concept]
- double-strand break repair via homologous recombination [GO term]
Currated CISMeF NLP mapping
- Barakat Syndrome [NCIt concept]
- Barakat syndrome [Disease (Nov.)]
- Barakat syndrome [MedDRA Preferred Term]
- Barakat syndrome [MeSH concept]
- Hypoparathyroidism - deafness - renal disease [ICD-11 More detail]
- Hypoparathyroidism, deafness, renal disease syndrome (disorder) [SNOMED CT concept]
- Hypoparathyroidism-sensorineural deafness-renal disease syndrome [ORDO Disease]
- barakat syndrome [MeSH Supplementary Concept]
- hypoparathyroidism-deafness-renal disease syndrome [DO Concept]
DO Cross reference
- hypoparathyroidism-deafness-renal disease syndrome [DO Concept]
Genes related to phenotype
- Gata-binding protein 3 [OMIM gene]
HPO term(s)
- Aplasia of the uterus [HPO term]
- Aplasia of the vagina [HPO term]
- Autosomal dominant inheritance [HPO term]
- Basal ganglia calcification [HPO term]
- Chronic kidney disease [HPO term]
- Distal renal tubular acidosis [HPO term]
- Hematuria [HPO term]
- Horizontal nystagmus [HPO term]
- Hypoparathyroidism [HPO term]
- Nephrocalcinosis [HPO term]
- Nephrotic syndrome [HPO term]
- Primary amenorrhea [HPO term]
- Progressive renal insufficiency [HPO term]
- Proteinuria [HPO term]
- Proximal renal tubular acidosis [HPO term]
- Pseudopapilledema [HPO term]
- Ptosis [HPO term]
- Renal dysplasia [HPO term]
- Sensorineural hearing impairment [HPO term]
- Septate vagina [HPO term]
- Tetany [HPO term]
- Thickened glomerular basement membrane [HPO term]
- Unilateral renal dysplasia [HPO term]
- Uterus didelphys [HPO term]
ORDO concept(s)
- Hypoparathyroidism-sensorineural deafness-renal disease syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Barakat Syndrome [NCIt concept]
- Barakat syndrome [MeSH concept]
- Barakat syndrome [MedDRA Preferred Term]
- Barakat syndrome [Disease (Nov.)]
- HDR syndrome [MedDRA LLT]
- Hypoparathyroidism, deafness, renal disease syndrome (disorder) [SNOMED CT concept]
- Hypoparathyroidism-sensorineural deafness-renal disease syndrome [ORDO Disease]
- barakat syndrome [MeSH Supplementary Concept]
- hypoparathyroidism-deafness-renal disease syndrome [DO Concept]

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