MCID: SYN112
MIFTS: 20

Syndromic Microphthalmia-Anophthalmia-Coloboma

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Syndromic Microphthalmia-Anophthalmia-Coloboma

MalaCards integrated aliases for Syndromic Microphthalmia-Anophthalmia-Coloboma:

Name: Syndromic Microphthalmia-Anophthalmia-Coloboma 59
Microphthalmia, Syndromic 37 40
Syndromic Microphthalmia 59 29

Classifications:



External Ids:

KEGG 37 H02170
Orphanet 59 ORPHA202948

Summaries for Syndromic Microphthalmia-Anophthalmia-Coloboma

KEGG : 37
Microphthalmia can be defined as a reduced size of the globe in the orbit. More than 50% of individuals with microphthalmia have extraocular findings, most commonly involving the limbs, musculoskeletal system and the craniofacial region with anomalies of the face, ear and neck.

MalaCards based summary : Syndromic Microphthalmia-Anophthalmia-Coloboma, also known as microphthalmia, syndromic, is related to bosma arhinia microphthalmia syndrome and microphthalmia, syndromic 11. An important gene associated with Syndromic Microphthalmia-Anophthalmia-Coloboma is ANOP1 (Anophthalmos 1 (With Mental Retardation, Without Limb Anomalies Or Dental Or Urogenital Abnormalities)). Affiliated tissues include eye, brain and pituitary.

Related Diseases for Syndromic Microphthalmia-Anophthalmia-Coloboma

Diseases related to Syndromic Microphthalmia-Anophthalmia-Coloboma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 90)
# Related Disease Score Top Affiliating Genes
1 bosma arhinia microphthalmia syndrome 12.6
2 microphthalmia, syndromic 11 12.4
3 microphthalmia, syndromic 12 12.4
4 colobomatous microphthalmia 12.0
5 microphthalmia, syndromic 3 11.9
6 microphthalmia, syndromic 5 11.6
7 microphthalmia, syndromic 2 11.4
8 microphthalmia/coloboma and skeletal dysplasia syndrome 11.4
9 microphthalmia, syndromic 8 11.3
10 microphthalmia, syndromic 6 11.3
11 microphthalmia, syndromic 4 11.2
12 microphthalmia, isolated 5 11.2
13 microphthalmia, syndromic 13 11.1
14 microphthalmia, syndromic 9 11.1
15 microphthalmia, syndromic 10 11.1
16 microphthalmia, isolated 6 11.1
17 microphthalmia microtia fetal akinesia 11.1
18 oculo-cerebral dysplasia 11.1
19 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 11.1
20 arhinia choanal atresia microphthalmia 11.1
21 intellectual disability - athetosis - microphthalmia 11.1
22 obsolete: microphthalmia-cataract syndrome 11.1
23 anophthalmos with limb anomalies 11.0
24 microphthalmia 10.4
25 coloboma of macula 10.4
26 microphthalmia with limb anomalies 10.4
27 microphthalmia, syndromic 1 10.4
28 linear skin defects with multiple congenital anomalies 1 10.4
29 fryns microphthalmia syndrome 10.4
30 coloboma of iris 10.4
31 muscular dystrophy 10.1
32 sclerocornea 10.1
33 facioscapulohumeral muscular dystrophy 1 10.1
34 facioscapulohumeral muscular dystrophy 2 10.1
35 cryptorchidism, unilateral or bilateral 10.0
36 alacrima, achalasia, and mental retardation syndrome 10.0
37 hypogonadism 10.0
38 hypogonadotropism 10.0
39 focal dermal hypoplasia 9.9
40 microphthalmia, isolated, with coloboma 3 9.9
41 microphthalmia, isolated 2 9.9
42 microcephaly 9.9
43 chromosome 2q35 duplication syndrome 9.9
44 ptosis 9.9
45 hypogonadotropic hypogonadism 9.9
46 hypospadias 9.9
47 hypotonia 9.9
48 cleft palate, isolated 9.8
49 coffin-siris syndrome 1 9.8
50 solitary median maxillary central incisor 9.8

Graphical network of the top 20 diseases related to Syndromic Microphthalmia-Anophthalmia-Coloboma:



Diseases related to Syndromic Microphthalmia-Anophthalmia-Coloboma

Symptoms & Phenotypes for Syndromic Microphthalmia-Anophthalmia-Coloboma

Drugs & Therapeutics for Syndromic Microphthalmia-Anophthalmia-Coloboma

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Molecular Analysis of Microphthalmia/Anophthalmia and Related Disorders Completed NCT00011843

Search NIH Clinical Center for Syndromic Microphthalmia-Anophthalmia-Coloboma

Genetic Tests for Syndromic Microphthalmia-Anophthalmia-Coloboma

Genetic tests related to Syndromic Microphthalmia-Anophthalmia-Coloboma:

# Genetic test Affiliating Genes
1 Syndromic Microphthalmia 29

Anatomical Context for Syndromic Microphthalmia-Anophthalmia-Coloboma

MalaCards organs/tissues related to Syndromic Microphthalmia-Anophthalmia-Coloboma:

41
Eye, Brain, Pituitary

Publications for Syndromic Microphthalmia-Anophthalmia-Coloboma

Articles related to Syndromic Microphthalmia-Anophthalmia-Coloboma:

(show all 16)
# Title Authors PMID Year
1
Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases. 38
31053785 2019
2
Syndromic chorioretinal coloboma associated with heterozygous de novo RARA mutation affecting an amino acid critical for retinoic acid interaction. 38
31343737 2019
3
NAA10 polyadenylation signal variants cause syndromic microphthalmia. 38
30842225 2019
4
Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment. 38
30773800 2019
5
Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu. 38
30450806 2018
6
Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2. 38
28388256 2017
7
Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches. 38
28098148 2017
8
Syndromic microphthalmia-3 caused by a mutation on gene SOX2 in a Colombian male patient. 38
27206652 2016
9
Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia. 38
25026905 2015
10
Whole-genome copy number variation analysis in anophthalmia and microphthalmia. 38
23701296 2013
11
Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome. 38
23815237 2013
12
Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes. 38
20003547 2009
13
Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar. 38
17661825 2007
14
CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds. 38
15257456 2004
15
Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder? 38
12116202 2002
16
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. 38
10932181 2000

Variations for Syndromic Microphthalmia-Anophthalmia-Coloboma

Expression for Syndromic Microphthalmia-Anophthalmia-Coloboma

Search GEO for disease gene expression data for Syndromic Microphthalmia-Anophthalmia-Coloboma.

Pathways for Syndromic Microphthalmia-Anophthalmia-Coloboma

GO Terms for Syndromic Microphthalmia-Anophthalmia-Coloboma

Sources for Syndromic Microphthalmia-Anophthalmia-Coloboma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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