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Familial thyroid dyshormonogenesis

6 OMIM references -
6 associated genes
16 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Familial thyroid dyshormonogenesis

CLN10 disease

DUOX2	(UniProt - OMIM)		CTSD	(UniProt - OMIM)
DUOXA2	(UniProt - OMIM)
IYD	(UniProt - OMIM)
SLC5A5	(UniProt - OMIM)
TG	(UniProt - OMIM)
TPO	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TG	(0.52)	CTSD

Citations in the biomedical literature:

Familial thyroid dyshormonogenesis		CLN10 disease
	Synonym(s): - Thyroid dyshormonogenesis		Synonym(s): - Cathepsin D deficiency

	Classification (Orphanet): - Rare endocrine disease - Rare genetic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: - Average age onset: variable Average age of death: - Type of inheritance: autosomal recessive

	External references: 6 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references

Familial thyroid dyshormonogenesis
	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 - Macroglossia / tongue protrusion / proeminent / hypertrophic - Sleep and vigilance disorders - Umbilical hernia Frequent - Goiter - Intellectual deficit / mental / psychomotor retardation / learning disability - Short stature / dwarfism / nanism
CLN10 disease
(no data available)