Hypothyroidism, central, with testicular enlargement

Preferred Label : Hypothyroidism, central, with testicular enlargement;

Symbol : CHTE;

CISMeF acronym : CHTE;

Type : Phenotype, molecular basis known;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the immunoglobulin superfamily, member 1 gene (IGSF1, 300137.0001);

Prefixed ID : #300888;

Details

Origin ID

300888;

UMLS CUI

C3550963;

Currated CISMeF NLP mapping
- IGSF1 deficiency syndrome [DO Concept]
- Immunoglobulin Superfamily Member 1 Deficiency Syndrome [NCIt concept]
- X-linked central congenital hypothyroidism with late-onset testicular enlargement [ORDO Disease]
- X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder) [SNOMED CT concept]
DO Cross reference
- IGSF1 deficiency syndrome [DO Concept]
Genes related to phenotype
- Immunoglobulin superfamily, member 1 [OMIM gene]
HPO term(s)
- Hypothyroidism [HPO term]
- Inappropriately normal thyroid-stimulating hormone level [HPO term]
- Overweight [HPO term]
- Reduced TSH response to thyrotrophin-releasing hormone stimulation test [HPO term]
- Reduced circulating prolactin concentration [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked central congenital hypothyroidism with late-onset testicular enlargement [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- IGSF1 deficiency syndrome [DO Concept]
- Immunoglobulin Superfamily Member 1 Deficiency Syndrome [NCIt concept]
- X-linked central congenital hypothyroidism with late-onset testicular enlargement [ORDO Disease]

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