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1 OMIM reference -
11 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
29 signs/symptoms
Idiopathic pulmonary fibrosis
Loeys-Dietz syndrome type 1

ATP11A TGFBR1
DPP9 TGFBR2
DSP
FAM13A
MUC5B
OBFC1
SFTPA1
SFTPA2
SFTPC
TERC
TERT


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TERT
(0.63)
TGFBR2



Citations in the biomedical literature:


Idiopathic pulmonary fibrosis
ATP11A DPP9 DSP FAM13A MUC5B OBFC1
SFTPA1 SFTPA2 SFTPC TERC TERT
Loeys-Dietz syndrome type 1
TGFBR1 TGFBR2



Idiopathic pulmonary fibrosis
Loeys-Dietz syndrome type 1

Synonym(s):
- UIP
- Usual interstitial pneumonia

Synonym(s):
- Aortic aneurysm syndrome due to TGF-beta receptors anomalies

Classification (Orphanet):
- Rare respiratory disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare surgical thoracic disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Diseases of the respiratory system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: D054990
External references:
2 OMIM references -
No MeSH references

Loeys-Dietz syndrome type 1

Very frequent
- Aortic dissection
- Aortic root dilatation / dilation / aneurysm
- Arterial aneurism (excluding aorta)
- Arterial rupture
- Autosomal dominant inheritance
- Flat foot
- High vaulted / narrow palate
- Palate anomalies
- Patent ductus arteriosus
- Uterine rupture

Frequent
- Abnormal scarring / cheloids / hypertrophic scars
- Blue sclerae
- Camptodactyly of fingers
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Flat cheek bones / malar hypoplasia
- Long hand / arachnodactyly
- Marfanoid morphotype
- Micrognathia / retrognathia / micrognathism / retrognathism
- Scoliosis
- Striae
- Tall stature / gigantism / growth acceleration

Occasional
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- Craniostenosis / craniosynostosis / sutural synostosis
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Hyperextensible joints / articular hyperlaxity
- Joint dislocation / subluxation
- Pectus carinatum
- Pectus excavatum
- Thin skin


Idiopathic pulmonary fibrosis

(no data available)