Details of Disease

General Information of Disease (ID: DISG5AY9)

• Disease Name: Congenital primary aphakia
• Synonyms: CPA; anterior segment dysgenesis 2; ASGD2; aphakia, congenital primary; congenital aphakia; congenital absence of lens; anterior segment dysgenesis 2, multiple subtypes
• Definition: Congenital primary aphakia (CPA) is characterized by an absence of the lens. The prevalence is unknown. CPA can be associated with variable secondary ocular defects (including aplasia/dysplasia of the anterior segment of the eye, microphthalmia, and in some cases absence of the iris, retinal dysplasia, or sclerocornea). CPA results from early developmental arrest, around the 4th-5th week of embryogenesis, which prevents the formation of any lens structure. Mutations in the FOXE3 gene were identified in three affected siblings born to consanguineous parents.
• Disease Hierarchy:
  DISF6ADC: Lens disorder
  DIS12OKO: Anterior segment dysgenesis
  DISG5AY9: Congenital primary aphakia
• Disease Identifiers:
  MONDO ID: MONDO_0012456
  MESH ID: C537786
  UMLS CUI: C1853230
  OMIM ID: 610256
  MedGen ID: 339935
  Orphanet ID: 83461

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ADK	TTL732K	Strong	Biomarker	[1]
CPA1	TT3LJ6G	Strong	Biomarker	[2]
CPB1	TT4UJX5	Strong	Biomarker	[3]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NTM	OTHF0UQU	Strong	Biomarker	[4]
FOXE3	OTAUDKC1	Definitive	Autosomal recessive	[5]

References

• [1] Profound hypothermia after adenosine kinase inhibition in A1AR-deficient mice suggests a receptor-independent effect of intracellular adenosine.Pflugers Arch. 2017 Feb;469(2):339-347. doi: 10.1007/s00424-016-1925-3. Epub 2016 Dec 14.
• [2] Interobserver Variability in Histologic Evaluation of Liver Fibrosis Using Categorical and Quantitative Scores.Am J Clin Pathol. 2017 Apr 1;147(4):364-369. doi: 10.1093/ajcp/aqx011.
• [3] Enhancement of Th1 immune response against Leishmania cysteine peptidase A, B by PLGA nanoparticle.Int Immunopharmacol. 2018 Jun;59:97-105. doi: 10.1016/j.intimp.2018.03.012. Epub 2018 Apr 9.
• [4] Risk factors for the development of chronic pulmonary aspergillosis in patients with nontuberculous mycobacterial lung disease.PLoS One. 2017 Nov 30;12(11):e0188716. doi: 10.1371/journal.pone.0188716. eCollection 2017.
• [5] Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations. BMC Med Genet. 2011 Dec 28;12:172. doi: 10.1186/1471-2350-12-172.