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1 OMIM reference -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
6 associated genes
14 signs/symptoms
Generalized juvenile polyposis/juvenile polyposis coli
Athyreosis

BMPR1A FOXE1
ENG NKX2-1
SMAD4 NKX2-5
PAX8
SLC26A4
TSHR


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SMAD4
(0.63)
NKX2-5



Citations in the biomedical literature:


Generalized juvenile polyposis/juvenile polyposis coli
BMPR1A ENG SMAD4
Athyreosis
FOXE1 NKX2-1 NKX2-5 PAX8 SLC26A4 TSHR



Generalized juvenile polyposis/juvenile polyposis coli
Athyreosis

Classification (Orphanet):
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

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

Athyreosis

Very frequent
- Absent / hypotonic / flaccid abdominal wall muscles
- Asthenia / fatigue / weakness
- Coarse face
- Constipation
- Ectopic / agenesis / dysgenesis / hypoplastic thyroid
- Face / facial anomalies
- Hypothyroidy
- Hypotonia
- Large fontanelle / delayed fontanelle closure
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Muscle weakness / flaccidity
- Sleep and vigilance disorders

Frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Short stature / dwarfism / nanism



Generalized juvenile polyposis/juvenile polyposis coli

(no data available)