Bartter syndrome, type 4b, neonatal, with sensorineural deafness

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

Symbol : BARTS4B;

CISMeF acronym : BARTS4B;

Type : Phenotype, molecular basis known;

Inheritance : Digenic recessive;

Molecular basis : Caused by simultaneous homozygous mutations in both the chloride channel, kidney, A gene (CLCNKA, 602024.0001) and chloride channel, kidney, B gene (CLCNKB, 602023.0008);

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

Prefixed ID : #613090;

Details

Origin ID

613090;

UMLS CUI

C4310805;

Currated CISMeF NLP mapping
- Bartter disease type 4b [DO Concept]
- bartter syndrome, type 4b [MeSH concept]
- bartter syndrome, type 4b [MeSH Supplementary Concept]
DO Cross reference
- Bartter disease type 4b [DO Concept]
Genes related to phenotype
- Chloride channel, kidney, a [OMIM gene]
- Chloride channel, kidney, b [OMIM gene]
HPO term(s)
- 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]
- Heterogeneous [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]
- Motor delay [HPO term]
- Onset in utero [HPO term]
- Polyhydramnios [HPO term]
- Polyuria [HPO term]
- Premature birth [HPO term]
- Renal insufficiency [HPO term]
- Renal salt wasting [HPO term]
- Sensorineural hearing impairment [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]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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