ODCs

Click node...

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

5 associated genes
17 signs/symptoms

Familial clubfoot due to 5q31 microdeletion

Hypothyroidism due to deficient transcription factors involved in pituitary development or function


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PITX1	(0.78)	POU1F1

Citations in the biomedical literature:

Familial clubfoot due to 5q31 microdeletion		Hypothyroidism due to deficient transcription factors involved in pituitary development or function
	Synonym(s): - Hereditary clubfoot due to 5q31 microdeletion		Synonym(s): (no synonyms)

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: (no data available)		Epidemiological data: (no data available)

	External references: No OMIM references No MeSH references		External references: No OMIM references No MeSH references

Hypothyroidism due to deficient transcription factors involved in pituitary development or function
	Very frequent - Absent / hypotonic / flaccid abdominal wall muscles - Asthenia / fatigue / weakness - 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 - Sleep and vigilance disorders - Umbilical hernia Frequent - Cleft lip and palate - Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism - Intellectual deficit / mental / psychomotor retardation / learning disability - Septo-optic dysplasia - Short stature / dwarfism / nanism
Familial clubfoot due to 5q31 microdeletion
(no data available)