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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
6 OMIM references -
6 associated genes
16 signs/symptoms
CLN10 disease
Familial thyroid dyshormonogenesis

CTSD DUOX2
DUOXA2
IYD
SLC5A5
TG
TPO


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


CLN10 disease
CTSD
Familial thyroid dyshormonogenesis
DUOX2 DUOXA2 IYD SLC5A5 TG TPO



CLN10 disease
Familial thyroid dyshormonogenesis

Synonym(s):
- Cathepsin D deficiency

Synonym(s):
- Thyroid dyshormonogenesis

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

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

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

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