Anophthalmia Plus Syndrome malady

Genetic diseases, Rare diseases, Fetal diseases categories

Aliases & Classifications for Anophthalmia Plus Syndrome

About this section
45NIH Rare Diseases, 47Novoseek, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all 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, Cleft Lip/palate, Facial Anomalies, and Cns Anomalies and Hypothalamic Disorder 45
Fryns Anophthalmia Syndrome 45
Anophthalmia 47


Characteristics (Orphanet epidemiological data):

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

External Ids:

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

Summaries for Anophthalmia Plus Syndrome

About this section
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 aniridia and anophthalmos with limb anomalies, 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 Signaling pathways regulating pluripotency of stem cells. Affiliated tissues include eye and adrenal gland, and related mouse phenotypes are pigmentation and taste/olfaction.

Related Diseases for Anophthalmia Plus Syndrome

About this section

Diseases in the Anophthalmia Plus Syndrome family:

Pax6-Related Anophthalmia

Diseases related to Anophthalmia Plus Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 235)
idRelated DiseaseScoreTop Affiliating Genes
1aniridia29.7OTX2, PAX6
2anophthalmos with limb anomalies29.3HESX1, OTX2, PAX6, SOX2, VSX2
3optic nerve hypoplasia29.3HESX1, PAX6, SOX2
4oculocerebrocutaneous syndrome10.7
5sox2 anophthalmia syndrome10.5
6microphthalmia, syndromic 310.4
8microphthalmia, syndromic 910.3
9microphthalmia, syndromic 110.3
10microphthalmia with limb anomalies10.3
11microphthalmia, syndromic 610.3
15cleft lip10.3
16esophageal atresia10.3
17anophthalmia megalocornea cardiopathy skeletal anomalies10.2
18manitoba oculotrichoanal syndrome10.2
19microphthalmia, syndromic 510.2
20focal dermal hypoplasia10.2
22microphthalmia/anophthalmia/coloboma spectrum10.2
23mental retardation anophthalmia craniosynostosis10.2
24anophthalmia-esophageal atresia-genital abnormalities syndrome10.2
25microphthalmia, syndromic 1210.1
26microphthalmia, syndromic 1410.1
27microphthalmia, syndromic 810.1
28hemifacial microsomia10.1
29linear skin defects with multiple congenital anomalies 110.1
30microphthalmia, syndromic 210.1
31pituitary hypoplasia10.1
34anophthalmia cleft lip palate hypothalamic disorder10.1
35anophthalmia cleft palate micrognathia10.1
36anophthalmia esophageal atresia cryptorchidism10.1
37anophthalmia microcephaly hypogonadism10.1
38anophthalmia or microphthalmia, retinal dystrophy and/or myopia associated with brain anomalies10.1
39growth hormone deficiency10.1
40pax6-related anophthalmia10.1
41rax-related anophthalmia/microphthalmia10.1
42microphthalmia, syndromic 1110.0
43microphthalmia, isolated 210.0
44microphthalmia, isolated 310.0
46microphthalmia, syndromic 1310.0
47diaphragmatic eventration10.0
50aplastic anemia, ifng-related10.0SOX2, VSX2

Graphical network of the top 20 diseases related to Anophthalmia Plus Syndrome:

Diseases related to anophthalmia plus syndrome

Symptoms for Anophthalmia Plus Syndrome

About this section


 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

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Anophthalmia Plus Syndrome

Genetic Tests for Anophthalmia Plus Syndrome

About this section

Anatomical Context for Anophthalmia Plus Syndrome

About this section

MalaCards organs/tissues related to Anophthalmia Plus Syndrome:

Eye, Adrenal gland

Animal Models for Anophthalmia Plus Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Anophthalmia Plus Syndrome:

38 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.8OTX2, PAX6, SOX2, VSX2
2MP:00053948.7HESX1, OTX2, PAX6, SOX2
3MP:00053778.3HESX1, OTX2, PAX6, SOX2
4MP:00053828.3HESX1, OTX2, PAX6, SOX2
5MP:00028738.3HESX1, OTX2, PAX6, SOX2
6MP:00053808.2HESX1, OTX2, PAX6, SOX2
7MP:00053898.1OTX2, PAX6, SOX2, VSX2
8MP:00053888.1HESX1, OTX2, PAX6, SOX2
9MP:00107687.7HESX1, OTX2, PAX6, SOX2, VSX2
10MP:00053917.6HESX1, OTX2, PAX6, SOX2, VSX2
11MP:00053797.5HESX1, OTX2, PAX6, SOX2, VSX2
12MP:00036317.4HESX1, OTX2, PAX6, SOX2, VSX2

Publications for Anophthalmia Plus Syndrome

About this section

Articles related to Anophthalmia Plus Syndrome:

Fryns anophthalmia-plus syndrome: two rare cases. (25804017)
Anophthalmia-plus syndrome with unusual findings. A clinical report and review of the literature. (24341146)
Fryns anophthalmia-plus syndrome in an 18-week-old fetus. (21675878)
Fryns anophthalmia-plus syndrome with hypoplastic adrenal glands. (18564500)
Anophthalmia-plus syndrome: a clinical report and review of the literature. (17152069)

Variations for Anophthalmia Plus Syndrome

About this section

Expression for genes affiliated with Anophthalmia Plus Syndrome

About this section
Search GEO for disease gene expression data for Anophthalmia Plus Syndrome.

Pathways for genes affiliated with Anophthalmia Plus Syndrome

About this section

Pathways related to Anophthalmia Plus Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3PAX6, SOX2
28.5HESX1, PAX6, SOX2
38.5HESX1, PAX6, SOX2

GO Terms for genes affiliated with Anophthalmia Plus Syndrome

About this section

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1neuron fate commitmentGO:004866310.1OTX2, PAX6
2dorsal/ventral pattern formationGO:000995310.1OTX2, PAX6
3camera-type eye developmentGO:00430109.9PAX6, VSX2
4anterior/posterior pattern specificationGO:00099529.9OTX2, PAX6
5response to woundingGO:00096119.9PAX6, SOX2
6pituitary gland developmentGO:00219839.8PAX6, SOX2
7negative regulation of epithelial cell proliferationGO:00506809.8PAX6, SOX2
8negative regulation of neuron differentiationGO:00456659.8PAX6, SOX2
9eye developmentGO:00016549.8PAX6, SOX2
10organ morphogenesisGO:00098879.8OTX2, PAX6
11cell fate commitmentGO:00451659.5OTX2, PAX6, VSX2
12central nervous system developmentGO:00074179.5OTX2, PAX6
13positive regulation of transcription, DNA-templatedGO:00458939.1OTX2, PAX6, SOX2
14forebrain developmentGO:00309009.0OTX2, PAX6, SOX2
15transcription from RNA polymerase II promoterGO:00063668.5OTX2, PAX6, SOX2
16positive regulation of transcription from RNA polymerase II promoterGO:00459448.4OTX2, PAX6, SOX2, VSX2
17regulation of transcription, DNA-templatedGO:00063557.4HESX1, OTX2, PAX6, SOX2, VSX2

Molecular functions related to Anophthalmia Plus Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.3OTX2, PAX6, SOX2
2sequence-specific DNA bindingGO:00435657.5HESX1, OTX2, PAX6, SOX2, VSX2
3DNA bindingGO:00036777.2HESX1, OTX2, PAX6, SOX2, VSX2

Sources for Anophthalmia Plus Syndrome

About this section
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet