MCID: ANP018
MIFTS: 38

Anophthalmia Plus Syndrome malady

Categories: Genetic diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Anophthalmia Plus Syndrome

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Sources:
45NIH Rare Diseases, 51Orphanet, 65UMLS, 47Novoseek, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Anophthalmia Plus Syndrome:

Name: Anophthalmia Plus Syndrome 45 51 65
Microphthalmia with Facial Clefting 45 51
Fryns Microphthalmia Syndrome 45 51
Leichtman Wood Rohn Syndrome 45 65
 
Anophthalmia 47 24
Anophthalmia, Cleft Lip/palate, Facial Anomalies, and Cns Anomalies and Hypothalamic Disorder 45
Fryns Anophthalmia Syndrome 45

Characteristics:

Orphanet epidemiological data:

51
anophthalmia plus syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal

Classifications:



External Ids:

Orphanet51 1104
ICD10 via Orphanet28 Q02
MESH via Orphanet37 C537767
UMLS via Orphanet66 C1833339
UMLS65 C1833339, C2931390

Summaries for Anophthalmia Plus Syndrome

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NIH Rare Diseases:45 Anophthalmia plus syndrome (aps) is a very rare syndrome that involves malformations in multiple organs of the body. the most common findings in affected individuals are anophthalmia (absence of one or both eyes) or severe microphthalmia (abnormally small eyes), and cleft lip and/or cleft palate. other findings may include wide-set eyes (hypertelorism); low-set ears; narrowed or blocked nasal passages (choanal stenosis or atresia); sacral neural tube defect, midline abdominal wall defects, clinodactyly, eye colobomas and congenital glaucoma. it has been suggested that aps is inherited in an autosomal recessive manner, although the genetic cause has not yet been identified. last updated: 11/17/2011

MalaCards based summary: Anophthalmia Plus Syndrome, also known as microphthalmia with facial clefting, is related to oculocerebrocutaneous syndrome and microphthalmia, and has symptoms including anophthalmos/anophthalmia/microphthalmos/microphthalmia, autosomal recessive inheritance and hypertelorism. An important gene associated with Anophthalmia Plus Syndrome is VSX2 (Visual System Homeobox 2), and among its related pathways are Cardiac Progenitor Differentiation and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include eye, t cells and skin, and related mouse phenotypes are pigmentation and reproductive system.

Related Diseases for Anophthalmia Plus Syndrome

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Graphical network of diseases related to Anophthalmia Plus Syndrome:



Diseases related to anophthalmia plus syndrome

Symptoms for Anophthalmia Plus Syndrome

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Symptoms:

 51 (show all 17)
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • autosomal recessive inheritance
  • hypertelorism
  • facial cleft
  • anomalies of nose and olfaction
  • choanal atresia
  • lateral cleft lip/gingival cleft/paramedian nasal cleft
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • low set ears/posteriorly rotated ears
  • coloboma of iris
  • blepharophimosis/short palpebral fissures
  • coloboma of the eyelid
  • small/hypoplastic/adherent/absent ear lobe
  • vertebral segmentation anomaly/hemivertebrae
  • sacrococcyx agenesis
  • clinodactyly of fingers 1,2,3,4/overlapping fingers
  • spina bifida

Drugs & Therapeutics for Anophthalmia Plus Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Anophthalmia Plus Syndrome

Genetic Tests for Anophthalmia Plus Syndrome

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Anatomical Context for Anophthalmia Plus Syndrome

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MalaCards organs/tissues related to Anophthalmia Plus Syndrome:

33
Eye, T cells, Skin, Adrenal gland

Animal Models for Anophthalmia Plus Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Anophthalmia Plus Syndrome:

38 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.7OTX2, PAX6, SOX2, VSX2
2MP:00053898.6OTX2, PAX6, SOX2, VSX2
3MP:00053808.4HESX1, OTX2, PAX6, SOX2
4MP:00053948.3HESX1, OTX2, PAX6, SOX2
5MP:00028738.3HESX1, OTX2, PAX6, SOX2
6MP:00053888.2HESX1, OTX2, PAX6, SOX2
7MP:00053828.0HESX1, OTX2, PAX6, SOX2
8MP:00053778.0HESX1, OTX2, PAX6, SOX2
9MP:00053797.9HESX1, OTX2, PAX6, SOX2, VSX2
10MP:00053917.8HESX1, OTX2, PAX6, SOX2, VSX2
11MP:00036317.6HESX1, OTX2, PAX6, SOX2, VSX2
12MP:00107687.2HESX1, OTX2, PAX6, SOX2, VSX2

Publications for Anophthalmia Plus Syndrome

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Articles related to Anophthalmia Plus Syndrome:

idTitleAuthorsYear
1
Fryns anophthalmia-plus syndrome: two rare cases. (25804017)
2014
2
Anophthalmia-plus syndrome with unusual findings. A clinical report and review of the literature. (24341146)
2013
3
Fryns anophthalmia-plus syndrome in an 18-week-old fetus. (21675878)
2012
4
Fryns anophthalmia-plus syndrome with hypoplastic adrenal glands. (18564500)
2008
5
Anophthalmia-plus syndrome: a clinical report and review of the literature. (17152069)
2007

Variations for Anophthalmia Plus Syndrome

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Expression for genes affiliated with Anophthalmia Plus Syndrome

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Search GEO for disease gene expression data for Anophthalmia Plus Syndrome.

Pathways for genes affiliated with Anophthalmia Plus Syndrome

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GO Terms for genes affiliated with Anophthalmia Plus Syndrome

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Biological processes related to Anophthalmia Plus Syndrome according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1forebrain developmentGO:00309009.9OTX2, PAX6
2regulation of gene expressionGO:00104689.8PAX6, SOX2
3eye developmentGO:00016549.7PAX6, SOX2
4negative regulation of neuron differentiationGO:00456659.5PAX6, SOX2
5visual perceptionGO:00076019.4PAX6, VSX2
6positive regulation of transcription, DNA-templatedGO:00458939.1OTX2, PAX6, SOX2
7regulation of transcription, DNA-templatedGO:00063558.8OTX2, PAX6, SOX2
8positive regulation of transcription from RNA polymerase II promoterGO:00459448.8OTX2, PAX6, SOX2

Sources for Anophthalmia Plus Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet