MCID: FRY006
MIFTS: 36

Fryns Microphthalmia Syndrome malady

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for Fryns Microphthalmia Syndrome

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Sources:
27GTR, 31ICD10 via Orphanet, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Fryns Microphthalmia Syndrome:

Name: Fryns Microphthalmia Syndrome 52 48 54
Anophthalmia Plus Syndrome 48 54 27 68
Microphthalmia with Facial Clefting 48 54
Leichtman Wood Rohn Syndrome 48 68
 
Anophthalmia, Cleft Lip/palate, Facial Anomalies, and Cns Anomalies and Hypothalamic Disorder 48
Fryns Anophthalmia Syndrome 48
Anophthalmia 50

Characteristics:

Orphanet epidemiological data:

54
anophthalmia plus syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal

HPO:

64
fryns microphthalmia syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 600776
Orphanet54 ORPHA1104
UMLS via Orphanet69 C1833339
ICD10 via Orphanet31 Q87.8
MESH via Orphanet40 C537767

Summaries for Fryns Microphthalmia Syndrome

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NIH Rare Diseases:48 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 amelogenesis imperfecta, type iia5, and has symptoms including Array, Array and Array. An important gene associated with Fryns Microphthalmia Syndrome is VSX2 (Visual System Homeobox 2), and among its related pathways are Dopaminergic Neurogenesis and Cardiac Progenitor Differentiation. Affiliated tissues include eye, and related mouse phenotypes are pigmentation and reproductive system.

Description from OMIM:52 600776

Related Diseases for Fryns Microphthalmia Syndrome

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Graphical network of the top 20 diseases related to Fryns Microphthalmia Syndrome:



Diseases related to fryns microphthalmia syndrome

Symptoms & Phenotypes 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:

 54 64 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate54 Frequent (79-30%)
2 hypertelorism64 54 Frequent (79-30%) HP:0000316
3 low-set, posteriorly rotated ears64 54 Frequent (79-30%) HP:0000368
4 choanal atresia64 54 Frequent (79-30%) HP:0000453
5 anophthalmia64 54 Very frequent (99-80%) HP:0000528
6 blepharophimosis64 54 Occasional (29-5%) HP:0000581
7 iris coloboma64 54 Occasional (29-5%) HP:0000612
8 cleft eyelid64 54 Occasional (29-5%) HP:0000625
9 facial cleft64 54 Frequent (79-30%) HP:0002006
10 spina bifida64 54 Occasional (29-5%) HP:0002414
11 bilateral cleft lip and palate64 54 Frequent (79-30%) HP:0002744
12 vertebral segmentation defect64 54 Occasional (29-5%) HP:0003422
13 deviation of finger64 54 Occasional (29-5%) HP:0004097
14 abnormal nasal morphology64 54 Frequent (79-30%) HP:0005105
15 aplasia/hypoplasia of the earlobes64 54 Occasional (29-5%) HP:0009906
16 non-midline cleft lip54 Frequent (79-30%)
17 abnormality of the genitourinary system64 HP:0000119
18 macrotia64 HP:0000400
19 microphthalmia64 HP:0000568
20 abnormality of the vertebral column64 HP:0000925

MGI Mouse Phenotypes related to Fryns Microphthalmia Syndrome according to GeneCards Suite gene sharing:

41 (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

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 Anophthalmia27

Anatomical Context for Fryns Microphthalmia Syndrome

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MalaCards organs/tissues related to Fryns Microphthalmia Syndrome:

36
Eye

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 11)
idNameGO IDScoreTop Affiliating Genes
1eye developmentGO:000165410.1PAX6, SOX2
2negative regulation of epithelial cell proliferationGO:005068010.1PAX6, SOX2
3negative regulation of neuron differentiationGO:004566510.1PAX6, SOX2
4response to woundingGO:000961110.1PAX6, SOX2
5forebrain developmentGO:00309009.6OTX2, PAX6, SOX2
6positive regulation of transcription, DNA-templatedGO:00458939.6OTX2, PAX6, SOX2
7transcription from RNA polymerase II promoterGO:00063669.6OTX2, PAX6, SOX2
8pituitary gland developmentGO:00219839.3HESX1, PAX6, SOX2
9multicellular organism developmentGO:00072758.3HESX1, OTX2, PAX6, SOX2, VSX2
10regulation of transcription, DNA-templatedGO:00063558.3HESX1, OTX2, PAX6, SOX2, VSX2
11transcription, DNA-templatedGO:00063518.1HESX1, PAX6, SOX2, VSX2

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.3HESX1, OTX2, PAX6
2transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010778.8OTX2, PAX6, SOX2
3DNA bindingGO:00036778.7HESX1, OTX2, PAX6, SOX2
4sequence-specific DNA bindingGO:00435658.1HESX1, OTX2, PAX6, SOX2, VSX2

Sources for Fryns Microphthalmia Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet