Hypothyroidism, congenital, nongoitrous, 6

Preferred Label : Hypothyroidism, congenital, nongoitrous, 6;

Symbol : CHNG6;

CISMeF acronym : CHNG6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the alpha-1 subunit of the thyroid hormone receptor gene (THRA, 190120.0001);

Laboratory abnormalities : Slightly elevated cholesterol; Slightly elevated creatine kinase;

Prefixed ID : #614450;

Details

Origin ID

614450;

UMLS CUI

C3280817;

Automatic exact mappings (from CISMeF team)
- Peripheral resistance to thyroid hormones [ORDO Disease]
- congenital nongoitrous hypothyroidism 6 [DO Concept]
DO Cross reference
- congenital nongoitrous hypothyroidism 6 [DO Concept]
Genes related to phenotype
- Thyroid hormone receptor, alpha-1 [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad-based gait [HPO term]
- Congenital hip dislocation [HPO term]
- Congenital hypothyroidism [HPO term]
- Constipation [HPO term]
- Delayed eruption of teeth [HPO term]
- Delayed skeletal maturation [HPO term]
- Drowsiness [HPO term]
- Dry skin [HPO term]
- Growth delay [HPO term]
- Hoarse voice [HPO term]
- Hypertelorism [HPO term]
- Impaired sensitivity to thyroid hormone [HPO term]
- Increased T3/T4 ratio [HPO term]
- Increased body mass index [HPO term]
- Increased body weight [HPO term]
- Macroglossia [HPO term]
- Omphalocele [HPO term]
- Relative macrocephaly [HPO term]
- Wormian bones [HPO term]
ORDO concept(s)
- Peripheral resistance to thyroid hormones [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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