Cytoscape Web
Click node...


1 OMIM reference -
11 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 associated gene
16 signs/symptoms
Idiopathic pulmonary fibrosis
X-linked intellectual deficit, Golabi-Ito-Hall type

ATP11A PQBP1
DPP9
DSP
FAM13A
MUC5B
OBFC1
SFTPA1
SFTPA2
SFTPC
TERC
TERT


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SFTPC
(0.56)
PQBP1



Citations in the biomedical literature:


Idiopathic pulmonary fibrosis
ATP11A DPP9 DSP FAM13A MUC5B OBFC1
SFTPA1 SFTPA2 SFTPC TERC TERT
X-linked intellectual deficit, Golabi-Ito-Hall type
PQBP1



Idiopathic pulmonary fibrosis
X-linked intellectual deficit, Golabi-Ito-Hall type

Synonym(s):
- UIP
- Usual interstitial pneumonia

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare respiratory disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the respiratory system -
Classification (ICD10):
(no data available)

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: normal
Type of inheritance: x-linked recessive

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

X-linked intellectual deficit, Golabi-Ito-Hall type

Very frequent
- External ear anomalies
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long face
- Microcephaly
- Narrow face
- Short stature / dwarfism / nanism
- Triangular face
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures
- X-linked recessive inheritance

Frequent
- Atrial septal defect / interauricular communication
- Brittle hair / distrix / trichorrhexis
- Epicanthic folds
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypertonia / spasticity / rigidity / stiffness

Occasional
- Seizures / epilepsy / absences / spasms / status epilepticus


Idiopathic pulmonary fibrosis

(no data available)