MCID: FRY006
MIFTS: 34

Fryns Microphthalmia Syndrome malady

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for Fryns Microphthalmia Syndrome

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Sources:
26GTR, 30ICD10 via Orphanet, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Fryns Microphthalmia Syndrome:

Name: Fryns Microphthalmia Syndrome 51 47 53
Anophthalmia Plus Syndrome 47 53 26 67
Microphthalmia with Facial Clefting 47 53
Leichtman Wood Rohn Syndrome 47 67
 
Anophthalmia, Cleft Lip/palate, Facial Anomalies, and Cns Anomalies and Hypothalamic Disorder 47
Fryns Anophthalmia Syndrome 47
Anophthalmia 49

Characteristics:

Orphanet epidemiological data:

53
anophthalmia plus syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal

HPO:

63
fryns microphthalmia syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 600776
Orphanet53 ORPHA1104
UMLS via Orphanet68 C1833339
ICD10 via Orphanet30 Q87.8
MESH via Orphanet39 C537767

Summaries for Fryns Microphthalmia Syndrome

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NIH Rare Diseases:47 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:51 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

Human phenotypes related to Fryns Microphthalmia Syndrome:

 63 53 (show all 22)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aplasia/hypoplasia affecting the eye63 hallmark (90%) HP:0008056
2 cleft palate63 53 typical (50%) Frequent (79-30%) HP:0000175
3 hypertelorism63 53 typical (50%) Frequent (79-30%) HP:0000316
4 low-set, posteriorly rotated ears63 53 typical (50%) Frequent (79-30%) HP:0000368
5 choanal atresia63 53 typical (50%) Frequent (79-30%) HP:0000453
6 facial cleft63 53 typical (50%) Frequent (79-30%) HP:0002006
7 non-midline cleft lip63 53 typical (50%) Frequent (79-30%) HP:0100335
8 blepharophimosis63 53 occasional (7.5%) Occasional (29-5%) HP:0000581
9 iris coloboma63 53 occasional (7.5%) Occasional (29-5%) HP:0000612
10 cleft eyelid63 53 occasional (7.5%) Occasional (29-5%) HP:0000625
11 spina bifida63 53 occasional (7.5%) Occasional (29-5%) HP:0002414
12 vertebral segmentation defect63 53 occasional (7.5%) Occasional (29-5%) HP:0003422
13 deviation of finger63 53 occasional (7.5%) Occasional (29-5%) HP:0004097
14 aplasia/hypoplasia of the sacrum63 occasional (7.5%) HP:0008517
15 aplasia/hypoplasia of the earlobes63 53 occasional (7.5%) Occasional (29-5%) HP:0009906
16 abnormality of the genitourinary system63 HP:0000119
17 macrotia63 HP:0000400
18 anophthalmia63 53 Very frequent (99-80%) HP:0000528
19 microphthalmia63 HP:0000568
20 abnormality of the vertebral column63 HP:0000925
21 bilateral cleft lip and palate63 53 Frequent (79-30%) HP:0002744
22 abnormal nasal morphology53 Frequent (79-30%)

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 Anophthalmia26

Anatomical Context for Fryns Microphthalmia Syndrome

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MalaCards organs/tissues related to Fryns Microphthalmia Syndrome:

35
Eye

Animal Models for Fryns Microphthalmia Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Fryns Microphthalmia Syndrome:

40 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.1OTX2, PAX6, SOX2, VSX2
2MP:00053899.1OTX2, PAX6, SOX2, VSX2
3MP:00053828.8HESX1, OTX2, PAX6, SOX2
4MP:00053808.8HESX1, OTX2, PAX6, SOX2
5MP:00053778.8HESX1, OTX2, PAX6, SOX2
6MP:00028738.8HESX1, OTX2, PAX6, SOX2
7MP:00053888.7HESX1, OTX2, PAX6, SOX2
8MP:00053948.7HESX1, OTX2, PAX6, SOX2
9MP:00053798.4HESX1, OTX2, PAX6, SOX2, VSX2
10MP:00107688.4HESX1, OTX2, PAX6, SOX2, VSX2
11MP:00036318.3HESX1, OTX2, PAX6, SOX2, VSX2
12MP:00053917.5HESX1, 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 epithelial cell proliferationGO:00506809.6PAX6, SOX2
5negative regulation of neuron differentiationGO:00456659.5PAX6, SOX2
6axon guidanceGO:00074119.1OTX2, PAX6
7transcription from RNA polymerase II promoterGO:00063669.0OTX2, PAX6, SOX2
8positive regulation of transcription, DNA-templatedGO:00458939.0OTX2, PAX6, SOX2
9forebrain developmentGO:00309008.8OTX2, 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:00010779.1OTX2, 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet