Cytoscape Web
Click node...


1 OMIM reference -
11 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
23 signs/symptoms
Idiopathic pulmonary fibrosis
Reticular dysgenesis

ATP11A AK2
DPP9
DSP
FAM13A
MUC5B
OBFC1
SFTPA1
SFTPA2
SFTPC
TERC
TERT


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
DSP
(0.49)
AK2



Citations in the biomedical literature:


Idiopathic pulmonary fibrosis
ATP11A DPP9 DSP FAM13A MUC5B OBFC1
SFTPA1 SFTPA2 SFTPC TERC TERT
Reticular dysgenesis
AK2



Idiopathic pulmonary fibrosis
Reticular dysgenesis

Synonym(s):
- UIP
- Usual interstitial pneumonia

Synonym(s):
- AK2 deficiency
- Congenital aleukocytosis
- De Vaal disease
- Generalized hematopoietic hypoplasia
- SCID with leukopenia
- Severe combined immunodeficiency with leukopenia

Classification (Orphanet):
- Rare respiratory disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease

Classification (ICD10):
- Diseases of the respiratory system -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

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: before age 5
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: D054990
External references:
1 OMIM reference -
1 MeSH reference: C538361

Reticular dysgenesis

Very frequent
- Acute diarrhea
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Anaemia
- Autosomal recessive inheritance
- Chronic / relapsing otitis
- Hearing loss / hypoacusia / deafness
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Leukopenia / hypoleukocytosis
- Polynuclear cells / neutrophils anomalies / neutropenia
- Repeat respiratory infections
- Respiratory chain / mitochondrial anomalies
- Sepsis severe / septicemia
- Severe combined immune deficiency syndrome / SCID
- T-cell deficiency / cellular immunity deficiency
- Thymic aplasia / hypoplasia

Frequent
- Early death / lethality
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Fever / chilling
- Malabsorption / chronic diarrhea / steatorrhea
- Weight loss / loss of appetite / break in weight curve / general health alteration

Occasional
- Chronic skin infection / ulcerations / ulcers / cancrum
- Cutaneous rash
- Dehydration / hydroelectrolytic loss


Idiopathic pulmonary fibrosis

(no data available)