Bartter syndrome, type 2, antenatal

Preferred Label : Bartter syndrome, type 2, antenatal;

Symbol : BARTS2;

CISMeF acronym : BARTS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hyperprostaglandin e syndrome 2; Hypokalemic alkalosis with hypercalciuria 2, antenatal;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the potassium inwardly-rectifying channel, subfamily J, member 1 gene (KCNJ1, 600359.0001);

Laboratory abnormalities : Hypokalemia; Increased serum prostaglandin E2; Hyperprostaglandinuria; Hypercalciuria; Occasional hypomagnesemia; Hypochloremia; Increased urinary potassium; Increased urinary chloride; Hyposthenuria;

Prefixed ID : #241200;

Details

Origin ID

241200;

UMLS CUI

C1855849;

Automatic exact mappings (from CISMeF team)
- Antenatal Bartter syndrome [ORDO Disease]
Broader ORDO disease(s)
- Antenatal Bartter syndrome [ORDO Disease]
CISMeF manual mappings
- Bartter disease type 2 [DO Concept]
- Bartter syndrome antenatal type 2 (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Bartter syndrome type 2 [ICD-11 More detail]
- Bartter syndrome type 2 [ORDO Disease]
- Bartter syndrome, antenatal , type 2 [MeSH concept]
- Bartter syndrome, type 2 [Disease (Nov.)]
- bartter syndrome, antenatal , type 2 [MeSH Supplementary Concept]
DO Cross reference
- Bartter disease type 2 [DO Concept]
Genes related to phenotype
- Potassium channel, inwardly rectifying, subfamily j, member 1 [OMIM gene]
HPO term(s)
- Abnormally large globe [HPO term]
- Autosomal recessive inheritance [HPO term]
- Chondrocalcinosis [HPO term]
- Constipation [HPO term]
- Dehydration [HPO term]
- Diarrhea [HPO term]
- Failure to thrive [HPO term]
- Fetal polyuria [HPO term]
- Fever [HPO term]
- Frontal bossing [HPO term]
- Generalized muscle weakness [HPO term]
- Global developmental delay [HPO term]
- Heterogeneous [HPO term]
- Hyperactive renin-angiotensin system [HPO term]
- Hyperaldosteronism [HPO term]
- Hypercalciuria [HPO term]
- Hyperchloriduria [HPO term]
- Hyperprostaglandinuria [HPO term]
- Hypochloremia [HPO term]
- Hypokalemia [HPO term]
- Hypokalemic metabolic alkalosis [HPO term]
- Hypomagnesemia [HPO term]
- Hyposthenuria [HPO term]
- Impaired platelet aggregation [HPO term]
- Increased circulating renin level [HPO term]
- Increased serum prostaglandin E2 [HPO term]
- Increased urinary potassium [HPO term]
- Intellectual disability [HPO term]
- Low-to-normal blood pressure [HPO term]
- Macrocephaly [HPO term]
- Macrotia [HPO term]
- Muscle spasm [HPO term]
- Nephrocalcinosis [HPO term]
- Occasional hypomagnesemia [HPO term]
- Osteopenia [HPO term]
- Paresthesia [HPO term]
- Polydipsia [HPO term]
- Polyhydramnios [HPO term]
- Polyuria [HPO term]
- Premature birth [HPO term]
- Prominent forehead [HPO term]
- Renal juxtaglomerular cell hypertrophy/hyperplasia [HPO term]
- Renal potassium wasting [HPO term]
- Renal salt wasting [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Small for gestational age [HPO term]
- Tetany [HPO term]
- Triangular face [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Antenatal Bartter syndrome [ORDO Disease]
- Bartter syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bartter disease type 2 [DO Concept]
- Bartter syndrome antenatal type 2 (disorder) [SNOMED CT concept]
- Bartter syndrome, antenatal , type 2 [MeSH concept]
- Bartter syndrome, type 2 [Disease (Nov.)]
- bartter syndrome, antenatal , type 2 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Bartter syndrome [Disease (Nov.)]

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