Hypothyroidism, congenital, nongoitrous, 2

Preferred Label : Hypothyroidism, congenital, nongoitrous, 2;

Symbol : CHNG2;

CISMeF acronym : CHNG2; RTSH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Thyroid hypoplasia; Thyroid, ectopic; Athyreotic hypothyroidism; RTSH; Hypothyroidism, athyreotic; Thyroid dysgenesis; Thyroid agenesis; Hypothyroidism, congenital, due to thyroid dysgenesis; Thyrotropin resistance; Resistance to thyrotropin;

Description : In 80 to 85% of cases, congenital hypothyroidism is associated with, and presumably is a consequence of, thyroid dysgenesis (Macchia et al., 1998). In these cases, the thyroid gland can be absent (agenesis), ectopically located, and/or severely reduced in size (hypoplasia). When thyroid hormone therapy is not initiated within the first 2 months of life, congenital hypothyroidism can cause severe neurologic, mental, and motor damage (cretinism).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the paired box homeotic gene 8 (PAX8, 167415.0002);

Prefixed ID : #218700;

Details

Origin ID

218700;

UMLS CUI

C1869118;

Automatic exact mappings (from CISMeF team)
- Athyreosis [ORDO Disease]
- Congenital Thyroid Gland Aplasia [NCIt concept]
- Congenital Thyroid Gland Hypoplasia [NCIt concept]
- Congenital hypothyroidism due to developmental anomaly [ORDO Disease]
- Ectopic thyroid [HPO term]
- Ectopic thyroid [MedDRA Preferred Term]
- Hypoplasia of thyroid (disorder) [SNOMED CT concept]
- Primary congenital hypothyroidism due to a developmental anomaly [ICD-11 More detail]
- Thyroid agenesis [ICD-11 More detail]
- Thyroid agenesis [HPO term]
- Thyroid atrophy [MedDRA Preferred Term]
- Thyroid dysgenesis [HPO term]
- Thyroid ectopia [ORDO Disease]
- Thyroid hemiagenesis [ORDO Disease]
- Thyroid hormone resistance syndrome (disorder) [SNOMED CT concept]
- Thyroid hormone responsiveness defect (disorder) [SNOMED CT concept]
- Thyroid hypoplasia [ICD-11 More detail]
- Thyroid hypoplasia [HPO term]
- Thyroid hypoplasia [ORDO Disease]
- Thyroid hypoplasia [MedDRA LLT]
- hypoplasia of thyroid [SNOMED Notion]
- thyroid agenesis [MeSH concept]
- thyroid hypoplasia [MeSH concept]
- thyroid, ectopic [MeSH concept]
Broader ORDO disease(s)
- Congenital hypothyroidism [ORDO Disease]
Currated CISMeF NLP mapping
- Thyroid Dysgenesis [NCIt concept]
- congenital nongoitrous hypothyroidism 2 [DO Concept]
- hypothyroidism, congenital, nongoitrous, 2 [MeSH concept]
- hypothyroidism, congenital, nongoitrous, 2 [MeSH Supplementary Concept]
- thyroid dysgenesis [MeSH Descriptor]
- thyroid dysgenesis [MeSH concept]
DO Cross reference
- congenital nongoitrous hypothyroidism 2 [DO Concept]
Genes related to phenotype
- Paired box gene 8 [OMIM gene]
HPO term(s)
- Abdominal distention [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bradycardia [HPO term]
- Congenital hypothyroidism [HPO term]
- Constipation [HPO term]
- Delayed skeletal maturation [HPO term]
- Dry skin [HPO term]
- Ectopic thyroid [HPO term]
- Elevated circulating thyroid-stimulating hormone concentration [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Goiter [HPO term]
- Growth delay [HPO term]
- Hoarse cry [HPO term]
- Hyperbilirubinemia [HPO term]
- Hypothermia [HPO term]
- Hypothyroidism [HPO term]
- Hypotonia [HPO term]
- Large posterior fontanelle [HPO term]
- Lethargy [HPO term]
- Low T4 [HPO term]
- Macroglossia [HPO term]
- Stridor [HPO term]
- Thyroid agenesis [HPO term]
- Thyroid hypoplasia [HPO term]
- Umbilical hernia [HPO term]
ORDO concept(s)
- Athyreosis [ORDO Disease]
- Thyroid ectopia [ORDO Disease]
- Thyroid hemiagenesis [ORDO Disease]
- Thyroid hypoplasia [ORDO Disease]
See also inter- (CISMeF)
- thyroid agenesis [Disease (Nov.)]
- thyroid hormone resistance syndrome [Disease (Nov.)]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- hypothyroidism, congenital, nongoitrous, 2 [MeSH Supplementary Concept]
- hypothyroidism, congenital, nongoitrous, 2 [MeSH concept]

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