Bartter syndrome, type 4a, neonatal, with sensorineural deafness - CISMeF

" /> Bartter syndrome, type 4a, neonatal, with sensorineural deafness - CISMeF

CISMeF

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Bartter syndrome, type 4a, neonatal, with sensorineural deafnessOMIM Phenotype

Preferred Label : Bartter syndrome, type 4a, neonatal, with sensorineural deafness;

Symbol : BARTS4A;

CISMeF acronym : BARTS4A; BSND;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bartter syndrome, neonatal, with sensorineural deafness; BSND;

Included titles and symbols : Sensorineural deafness with mild renal dysfunction;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the barttin gene (BSND, 606412.0001);

Laboratory abnormalities : Hypokalemia; Hyponatremia; Hypochloremia; Urinary prostaglandin E; Increased urinary sodium; Increased urinary potassium; Increased urinary chloride;

Prefixed ID : #602522;

Details

Origin ID

602522;

UMLS CUI

C1865270;

Automatic exact mappings (from CISMeF team)
- BSND Gene [NCIt concept]
- Barttin [NCIt concept]
- barttin CLCNK type accessory subunit beta [ORDO Gene]
- sensorineural deafness with mild renal dysfunction [MeSH Supplementary Concept]
- sensorineural deafness with mild renal dysfunction [MeSH concept]
CISMeF manual mappings
- Bartter syndrome type 4a (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Bartter disease type 4a [DO Concept]
- bartter syndrome, type 4A [MeSH concept]
- bartter syndrome, type 4A [MeSH Supplementary Concept]
DO Cross reference
- Bartter disease type 4a [DO Concept]
Genes related to phenotype
- Barttin clcnk-type accessory subunit beta [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Decreased glomerular filtration rate [HPO term]
- Edema [HPO term]
- Failure to thrive [HPO term]
- Fetal polyuria [HPO term]
- Generalized hypotonia [HPO term]
- Global glomerulosclerosis [HPO term]
- Heterogeneous [HPO term]
- Hydrops fetalis [HPO term]
- Hyperaldosteronism [HPO term]
- Hyperaldosteronism [HPO term]
- Hyperchloriduria [HPO term]
- Hypernatriuria [HPO term]
- Hypochloremia [HPO term]
- Hypokalemia [HPO term]
- Hypokalemic hypochloremic metabolic alkalosis [HPO term]
- Hyponatremia [HPO term]
- Hyporeflexia [HPO term]
- Hypotonia [HPO term]
- Increased urinary potassium [HPO term]
- Increased urinary sodium [HPO term]
- Intellectual disability [HPO term]
- Loss of definition of corticomedullary differentiation [HPO term]
- Motor delay [HPO term]
- Onset in utero [HPO term]
- Polyhydramnios [HPO term]
- Polyuria [HPO term]
- Premature birth [HPO term]
- Reduced renal corticomedullary differentiation [HPO term]
- Renal insufficiency [HPO term]
- Renal salt wasting [HPO term]
- Sensorineural hearing impairment [HPO term]
- Tubulointerstitial fibrosis [HPO term]
- renal biopsy shows tubulointerstitial fibrosis [HPO term]
ORDO concept(s)
- Bartter syndrome [ORDO Disease]
- Bartter syndrome type 4 [ORDO Disease]
See also inter- (CISMeF)
- Bartter syndrome type 4 [ORDO Disease]
- bartter syndrome, type 4b [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bartter syndrome type 4a (disorder) [SNOMED CT concept]
- bartter syndrome, type 4A [MeSH Supplementary Concept]
- bartter syndrome, type 4A [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients

Nous contacter.
05/05/2025

© Rouen University Hospital. Any partial or total use of this material must mention the source.

" /> Bartter syndrome, type 4a, neonatal, with sensorineural deafness - CISMeF

CISMeF

chu

Bartter syndrome, type 4a, neonatal, with sensorineural deafnessOMIM Phenotype

Preferred Label : Bartter syndrome, type 4a, neonatal, with sensorineural deafness;

Symbol : BARTS4A;

CISMeF acronym : BARTS4A; BSND;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bartter syndrome, neonatal, with sensorineural deafness; BSND;

Included titles and symbols : Sensorineural deafness with mild renal dysfunction;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the barttin gene (BSND, 606412.0001);

Laboratory abnormalities : Hypokalemia; Hyponatremia; Hypochloremia; Urinary prostaglandin E; Increased urinary sodium; Increased urinary potassium; Increased urinary chloride;

Prefixed ID : #602522;

Details

Origin ID

602522;

UMLS CUI

C1865270;

Automatic exact mappings (from CISMeF team)
- BSND Gene [NCIt concept]
- Barttin [NCIt concept]
- barttin CLCNK type accessory subunit beta [ORDO Gene]
- sensorineural deafness with mild renal dysfunction [MeSH Supplementary Concept]
- sensorineural deafness with mild renal dysfunction [MeSH concept]
CISMeF manual mappings
- Bartter syndrome type 4a (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Bartter disease type 4a [DO Concept]
- bartter syndrome, type 4A [MeSH concept]
- bartter syndrome, type 4A [MeSH Supplementary Concept]
DO Cross reference
- Bartter disease type 4a [DO Concept]
Genes related to phenotype
- Barttin clcnk-type accessory subunit beta [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Decreased glomerular filtration rate [HPO term]
- Edema [HPO term]
- Failure to thrive [HPO term]
- Fetal polyuria [HPO term]
- Generalized hypotonia [HPO term]
- Global glomerulosclerosis [HPO term]
- Heterogeneous [HPO term]
- Hydrops fetalis [HPO term]
- Hyperaldosteronism [HPO term]
- Hyperaldosteronism [HPO term]
- Hyperchloriduria [HPO term]
- Hypernatriuria [HPO term]
- Hypochloremia [HPO term]
- Hypokalemia [HPO term]
- Hypokalemic hypochloremic metabolic alkalosis [HPO term]
- Hyponatremia [HPO term]
- Hyporeflexia [HPO term]
- Hypotonia [HPO term]
- Increased urinary potassium [HPO term]
- Increased urinary sodium [HPO term]
- Intellectual disability [HPO term]
- Loss of definition of corticomedullary differentiation [HPO term]
- Motor delay [HPO term]
- Onset in utero [HPO term]
- Polyhydramnios [HPO term]
- Polyuria [HPO term]
- Premature birth [HPO term]
- Reduced renal corticomedullary differentiation [HPO term]
- Renal insufficiency [HPO term]
- Renal salt wasting [HPO term]
- Sensorineural hearing impairment [HPO term]
- Tubulointerstitial fibrosis [HPO term]
- renal biopsy shows tubulointerstitial fibrosis [HPO term]
ORDO concept(s)
- Bartter syndrome [ORDO Disease]
- Bartter syndrome type 4 [ORDO Disease]
See also inter- (CISMeF)
- Bartter syndrome type 4 [ORDO Disease]
- bartter syndrome, type 4b [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bartter syndrome type 4a (disorder) [SNOMED CT concept]
- bartter syndrome, type 4A [MeSH Supplementary Concept]
- bartter syndrome, type 4A [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients

Nous contacter.
05/05/2025

© Rouen University Hospital. Any partial or total use of this material must mention the source.