ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

2 OMIM references -
2 associated genes
13 signs/symptoms

Blepharophimosis-intellectual deficit syndrome, MKB type

Peripheral resistance to thyroid hormones

MED12	(UniProt - OMIM)		THRA	(UniProt - OMIM)
			THRB	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MED12	(0.76)	THRA

Citations in the biomedical literature:

Blepharophimosis-intellectual deficit syndrome, MKB type		Peripheral resistance to thyroid hormones
	Synonym(s): - BMRS, MKB type - BMRS, Maat-Kievit-Brunner type - Blepharophimosis-intellectual deficit syndrome, Maat-Kievit-Brunner type		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare endocrine disease - Rare genetic disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked recessive		Epidemiological data: (no data available)

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - No MeSH references

Peripheral resistance to thyroid hormones
	Very frequent - Absent / hypotonic / flaccid abdominal wall muscles - Autosomal dominant inheritance - Coarse face - Constipation - Face / facial anomalies - Failure to thrive / difficulties for feeding in infancy / growth delay - Hepatitis / icterus / cholestasis - Hypothyroidy - Hypotonia - Large fontanelle / delayed fontanelle closure - Macroglossia / tongue protrusion / proeminent / hypertrophic - Sleep and vigilance disorders - Umbilical hernia
Blepharophimosis-intellectual deficit syndrome, MKB type
(no data available)