MCID: MCR300
MIFTS: 16

Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome

Categories: Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome

MalaCards integrated aliases for Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome:

Name: Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome 58 29 6
Syndromic Microphthalmia Type 4 58
Mcops4 58

Characteristics:

Orphanet epidemiological data:

58
microphthalmia-ankyloblepharon-intellectual disability syndrome
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q11.2
UMLS via Orphanet 72 C1844948
Orphanet 58 ORPHA85275

Summaries for Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome

MalaCards based summary : Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome, also known as syndromic microphthalmia type 4, is related to microphthalmia, syndromic 1. An important gene associated with Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome is NAA10 (N-Alpha-Acetyltransferase 10, NatA Catalytic Subunit). Affiliated tissues include eye, and related phenotypes are intellectual disability, mild and anophthalmia

Related Diseases for Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome

Diseases related to Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 microphthalmia, syndromic 1 11.3

Symptoms & Phenotypes for Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome

Human phenotypes related to Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
2 anophthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000528
3 microphthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000568
4 ankyloblepharon 58 31 hallmark (90%) Very frequent (99-80%) HP:0009755

Drugs & Therapeutics for Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome

Search Clinical Trials , NIH Clinical Center for Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome

Genetic Tests for Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome

Genetic tests related to Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome:

# Genetic test Affiliating Genes
1 Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome 29

Anatomical Context for Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome

MalaCards organs/tissues related to Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome:

40
Eye

Publications for Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome

Variations for Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome

ClinVar genetic disease variations for Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NAA10 NM_003491.4(NAA10):c.*40A>G SNV Likely pathogenic 617458 rs1342269961 X:153195400-153195400 X:153929947-153929947
2 NAA10 NM_003491.4(NAA10):c.*39A>G SNV Likely pathogenic 617462 rs1603289774 X:153195401-153195401 X:153929948-153929948
3 NAA10 NM_003491.4(NAA10):c.*43A>G SNV Likely pathogenic 617463 rs1603289772 X:153195397-153195397 X:153929944-153929944

Expression for Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome

Search GEO for disease gene expression data for Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome.

Pathways for Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome

GO Terms for Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome

Sources for Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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