MCID: FRY006
MIFTS: 36

Fryns Microphthalmia Syndrome malady

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for Fryns Microphthalmia Syndrome

Aliases & Descriptions for Fryns Microphthalmia Syndrome:

Name: Fryns Microphthalmia Syndrome 54 50 56
Anophthalmia Plus Syndrome 50 56 29 69
Microphthalmia with Facial Clefting 50 56
Leichtman Wood Rohn Syndrome 50 69
Anophthalmia, Cleft Lip/palate, Facial Anomalies, and Cns Anomalies and Hypothalamic Disorder 50
Fryns Anophthalmia Syndrome 50
Anophthalmia 52

Characteristics:

Orphanet epidemiological data:

56
anophthalmia plus syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

HPO:

32
fryns microphthalmia syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 600776
Orphanet 56 ORPHA1104
UMLS via Orphanet 70 C1833339
ICD10 via Orphanet 34 Q87.8
MESH via Orphanet 43 C537767

Summaries for Fryns Microphthalmia Syndrome

NIH Rare Diseases : 50 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 hypertelorism, abnormal nasal morphology and low-set, posteriorly rotated ears. An important gene associated with Fryns Microphthalmia Syndrome is VSX2 (Visual System Homeobox 2), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Ectoderm Differentiation. Affiliated tissues include eye, and related phenotypes are endocrine/exocrine gland and mortality/aging

Description from OMIM: 600776

Related Diseases for Fryns Microphthalmia Syndrome

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



Diseases related to Fryns Microphthalmia Syndrome

Symptoms & Phenotypes for Fryns Microphthalmia Syndrome

Symptoms by clinical synopsis from OMIM:

600776

Clinical features from OMIM:

600776

Human phenotypes related to Fryns Microphthalmia Syndrome:

56 32 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 56 32 Frequent (79-30%) HP:0000316
2 abnormal nasal morphology 56 32 Frequent (79-30%) HP:0005105
3 low-set, posteriorly rotated ears 56 32 Frequent (79-30%) HP:0000368
4 choanal atresia 56 32 Frequent (79-30%) HP:0000453
5 spina bifida 56 32 Occasional (29-5%) HP:0002414
6 blepharophimosis 56 32 Occasional (29-5%) HP:0000581
7 vertebral segmentation defect 56 32 Occasional (29-5%) HP:0003422
8 iris coloboma 56 32 Occasional (29-5%) HP:0000612
9 anophthalmia 56 32 Very frequent (99-80%) HP:0000528
10 cleft eyelid 56 32 Occasional (29-5%) HP:0000625
11 facial cleft 56 32 Frequent (79-30%) HP:0002006
12 deviation of finger 56 32 Occasional (29-5%) HP:0004097
13 aplasia/hypoplasia of the earlobes 56 32 Occasional (29-5%) HP:0009906
14 bilateral cleft lip and palate 56 32 Frequent (79-30%) HP:0002744
15 macrotia 32 HP:0000400
16 cleft palate 56 Frequent (79-30%)
17 non-midline cleft lip 56 Frequent (79-30%)
18 microphthalmia 32 HP:0000568
19 abnormality of the vertebral column 32 HP:0000925
20 abnormality of the genitourinary system 32 HP:0000119

MGI Mouse Phenotypes related to Fryns Microphthalmia Syndrome:

44 (show all 12)
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.88 HESX1 OTX2 PAX6 SOX2 VSX2
2 mortality/aging MP:0010768 9.83 HESX1 OTX2 PAX6 SOX2 VSX2
3 craniofacial MP:0005382 9.81 HESX1 OTX2 PAX6 SOX2
4 embryo MP:0005380 9.8 HESX1 OTX2 PAX6 SOX2
5 nervous system MP:0003631 9.8 HESX1 OTX2 PAX6 SOX2 VSX2
6 hearing/vestibular/ear MP:0005377 9.76 HESX1 OTX2 PAX6 SOX2
7 normal MP:0002873 9.67 HESX1 OTX2 PAX6 SOX2
8 pigmentation MP:0001186 9.62 OTX2 PAX6 SOX2 VSX2
9 reproductive system MP:0005389 9.56 OTX2 PAX6 SOX2 VSX2
10 respiratory system MP:0005388 9.46 HESX1 OTX2 PAX6 SOX2
11 taste/olfaction MP:0005394 9.26 HESX1 OTX2 PAX6 SOX2
12 vision/eye MP:0005391 9.02 HESX1 OTX2 PAX6 SOX2 VSX2

Drugs & Therapeutics for Fryns Microphthalmia Syndrome

Search Clinical Trials , NIH Clinical Center for Fryns Microphthalmia Syndrome

Genetic Tests for Fryns Microphthalmia Syndrome

Genetic tests related to Fryns Microphthalmia Syndrome:

id Genetic test Affiliating Genes
1 Anophthalmia 29

Anatomical Context for Fryns Microphthalmia Syndrome

MalaCards organs/tissues related to Fryns Microphthalmia Syndrome:

39
Eye

Publications for Fryns Microphthalmia Syndrome

Variations for Fryns Microphthalmia Syndrome

Expression for Fryns Microphthalmia Syndrome

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

Pathways for Fryns Microphthalmia Syndrome

GO Terms for Fryns Microphthalmia Syndrome

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 transcription, DNA-templated GO:0006351 9.8 HESX1 PAX6 SOX2 VSX2
2 positive regulation of transcription, DNA-templated GO:0045893 9.65 OTX2 PAX6 SOX2
3 regulation of transcription, DNA-templated GO:0006355 9.65 HESX1 OTX2 PAX6 SOX2 VSX2
4 transcription from RNA polymerase II promoter GO:0006366 9.63 OTX2 PAX6 SOX2
5 response to wounding GO:0009611 9.43 PAX6 SOX2
6 negative regulation of neuron differentiation GO:0045665 9.4 PAX6 SOX2
7 negative regulation of epithelial cell proliferation GO:0050680 9.37 PAX6 SOX2
8 multicellular organism development GO:0007275 9.35 HESX1 OTX2 PAX6 SOX2 VSX2
9 forebrain development GO:0030900 9.33 OTX2 PAX6 SOX2
10 eye development GO:0001654 9.32 PAX6 SOX2
11 pituitary gland development GO:0021983 8.8 HESX1 PAX6 SOX2

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

id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.56 HESX1 OTX2 PAX6 SOX2
2 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.33 HESX1 OTX2 PAX6
3 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 9.13 OTX2 PAX6 SOX2
4 sequence-specific DNA binding GO:0043565 9.02 HESX1 OTX2 PAX6 SOX2 VSX2

Sources for Fryns Microphthalmia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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