MCID: FRY006
MIFTS: 36

Fryns Microphthalmia Syndrome malady

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for Fryns Microphthalmia Syndrome

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Sources:
50OMIM, 46NIH Rare Diseases, 52Orphanet, 25GTR, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Fryns Microphthalmia Syndrome:

Name: Fryns Microphthalmia Syndrome 50 46 52
Anophthalmia Plus Syndrome 46 52 25 66
Microphthalmia with Facial Clefting 46 52
Leichtman Wood Rohn Syndrome 46 66
 
Anophthalmia, Cleft Lip/palate, Facial Anomalies, and Cns Anomalies and Hypothalamic Disorder 46
Fryns Anophthalmia Syndrome 46
Anophthalmia 48

Characteristics:

Orphanet epidemiological data:

52
anophthalmia plus syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal

HPO:

62
fryns microphthalmia syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 600776
Orphanet52 ORPHA1104
ICD10 via Orphanet29 Q87.8
MESH via Orphanet38 C537767
UMLS via Orphanet67 C1833339

Summaries for Fryns Microphthalmia Syndrome

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NIH Rare Diseases:46 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: Fryns Microphthalmia Syndrome, also known as anophthalmia plus syndrome, is related to oculocerebrocutaneous syndrome and microphthalmia, and has symptoms including aplasia/hypoplasia affecting the eye, cleft palate and hypertelorism. An important gene associated with Fryns Microphthalmia Syndrome is VSX2 (Visual System Homeobox 2), and among its related pathways are Neural Stem Cell Differentiation Pathways and Lineage-specific Markers and Cardiac Progenitor Differentiation. Affiliated tissues include eye, and related mouse phenotypes are pigmentation and reproductive system.

Description from OMIM:50 600776

Related Diseases for Fryns Microphthalmia Syndrome

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Graphical network of diseases related to Fryns Microphthalmia Syndrome:



Diseases related to fryns microphthalmia syndrome

Symptoms for Fryns Microphthalmia Syndrome

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Symptoms by clinical synopsis from OMIM:

600776

Clinical features from OMIM:

600776

Symptoms:

 52 (show all 16)
  • cleft palate
  • hypertelorism
  • low-set, posteriorly rotated ears
  • choanal atresia
  • anophthalmia
  • blepharophimosis
  • iris coloboma
  • cleft eyelid
  • facial cleft
  • spina bifida
  • bilateral cleft lip and palate
  • vertebral segmentation defect
  • deviation of finger
  • abnormal nasal morphology
  • aplasia/hypoplasia of the earlobes
  • non-midline cleft lip

HPO human phenotypes related to Fryns Microphthalmia Syndrome:

(show all 22)
id Description Frequency HPO Source Accession
1 aplasia/hypoplasia affecting the eye hallmark (90%) HP:0008056
2 cleft palate typical (50%) HP:0000175
3 hypertelorism typical (50%) HP:0000316
4 low-set, posteriorly rotated ears typical (50%) HP:0000368
5 choanal atresia typical (50%) HP:0000453
6 facial cleft typical (50%) HP:0002006
7 non-midline cleft lip typical (50%) HP:0100335
8 blepharophimosis occasional (7.5%) HP:0000581
9 iris coloboma occasional (7.5%) HP:0000612
10 cleft eyelid occasional (7.5%) HP:0000625
11 spina bifida occasional (7.5%) HP:0002414
12 vertebral segmentation defect occasional (7.5%) HP:0003422
13 deviation of finger occasional (7.5%) HP:0004097
14 aplasia/hypoplasia of the sacrum occasional (7.5%) HP:0008517
15 aplasia/hypoplasia of the earlobes occasional (7.5%) HP:0009906
16 abnormality of the genitourinary system HP:0000119
17 macrotia HP:0000400
18 anophthalmia HP:0000528
19 microphthalmia HP:0000568
20 abnormality of the vertebral column HP:0000925
21 facial cleft HP:0002006
22 bilateral cleft lip and palate HP:0002744

Drugs & Therapeutics for Fryns Microphthalmia Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Fryns Microphthalmia Syndrome

Genetic Tests for Fryns Microphthalmia Syndrome

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Genetic tests related to Fryns Microphthalmia Syndrome:

id Genetic test Affiliating Genes
1 Anophthalmia25

Anatomical Context for Fryns Microphthalmia Syndrome

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MalaCards organs/tissues related to Fryns Microphthalmia Syndrome:

34
Eye

Animal Models for Fryns Microphthalmia Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Fryns Microphthalmia Syndrome:

39 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.8OTX2, PAX6, SOX2, VSX2
2MP:00053898.7OTX2, PAX6, SOX2, VSX2
3MP:00053778.4HESX1, OTX2, PAX6, SOX2
4MP:00053948.4HESX1, OTX2, PAX6, SOX2
5MP:00053828.4HESX1, OTX2, PAX6, SOX2
6MP:00053888.2HESX1, OTX2, PAX6, SOX2
7MP:00053808.2HESX1, OTX2, PAX6, SOX2
8MP:00028737.9HESX1, OTX2, PAX6, SOX2
9MP:00107687.6HESX1, OTX2, PAX6, SOX2, VSX2
10MP:00036317.5HESX1, OTX2, PAX6, SOX2, VSX2
11MP:00053917.5HESX1, OTX2, PAX6, SOX2, VSX2
12MP:00053797.2HESX1, OTX2, PAX6, SOX2, VSX2

Publications for Fryns Microphthalmia Syndrome

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Variations for Fryns Microphthalmia Syndrome

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Expression for genes affiliated with Fryns Microphthalmia Syndrome

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Search GEO for disease gene expression data for Fryns Microphthalmia Syndrome.

Pathways for genes affiliated with Fryns Microphthalmia Syndrome

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GO Terms for genes affiliated with Fryns Microphthalmia Syndrome

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Biological processes related to Fryns Microphthalmia Syndrome according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1pituitary gland developmentGO:00219839.8PAX6, SOX2
2eye developmentGO:00016549.8PAX6, SOX2
3response to woundingGO:00096119.7PAX6, SOX2
4negative regulation of neuron differentiationGO:00456659.6PAX6, SOX2
5negative regulation of epithelial cell proliferationGO:00506809.6PAX6, SOX2
6axon guidanceGO:00074119.4OTX2, PAX6
7positive regulation of transcription, DNA-templatedGO:00458939.0OTX2, PAX6, SOX2
8transcription from RNA polymerase II promoterGO:00063668.9OTX2, PAX6, SOX2
9forebrain developmentGO:00309008.5OTX2, PAX6, SOX2

Molecular functions related to Fryns Microphthalmia Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.0OTX2, PAX6, SOX2
2sequence-specific DNA bindingGO:00435658.1HESX1, PAX6, SOX2, VSX2

Sources for Fryns Microphthalmia Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet