Hyperparathyroidism, transient neonatal

Preferred Label : Hyperparathyroidism, transient neonatal;

Symbol : HRPTTN;

CISMeF acronym : HRPTTN;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the transient receptor potential cation channel, subfamily V, member-6 gene (TRPV6, 606680.0001);

Laboratory abnormalities : Normal or low calcium; Normal phosphorus; Elevated alkaline phosphatase; Elevated 1,25-dihydroxyvitamin D; Low 25-OH vitamin D;

Prefixed ID : #618188;

Details

Origin ID

618188;

UMLS CUI

C1300287;

Currated CISMeF NLP mapping
- Transient Neonatal Hyperparathyroidism [NCIt concept]
- Transient neonatal hyperparathyroidism (disorder) [SNOMED CT concept]
Genes related to phenotype
- Transient receptor potential cation channel, subfamily V, member 6 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Delayed speech and language development [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Feeding difficulties [HPO term]
- Femoral bowing [HPO term]
- Motor delay [HPO term]
- Narrow chest [HPO term]
- Osteopenia [HPO term]
- Polyhydramnios [HPO term]
- Respiratory distress [HPO term]
- Short ribs [HPO term]
- Thin ribs [HPO term]
ORDO concept(s)
- Neonatal severe primary hyperparathyroidism [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Transient Neonatal Hyperparathyroidism [NCIt concept]
- Transient neonatal hyperparathyroidism (disorder) [SNOMED CT concept]

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