MCID: MCR262
MIFTS: 23

Microphthalmia, Syndromic 4

Categories: Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases, Mental diseases, Genetic diseases, Endocrine diseases, Cardiovascular diseases, Respiratory diseases, Reproductive diseases, Ear diseases

Aliases & Classifications for Microphthalmia, Syndromic 4

MalaCards integrated aliases for Microphthalmia, Syndromic 4:

Name: Microphthalmia, Syndromic 4 57 13 73
Mcops4 57 53 59
Microphthalmia with Ankyloblepharon and Mental Retardation 57 53
Syndromic Microphthalmia Type 4 53 59
Microphthalmia Syndromic 4 53 29
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome 59
Anop1, Formerly 57

Characteristics:

Orphanet epidemiological data:

59
microphthalmia-ankyloblepharon-intellectual disability syndrome
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
x-linked recessive


HPO:

32
microphthalmia, syndromic 4:
Inheritance x-linked inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 57 301590
Orphanet 59 ORPHA85275
UMLS via Orphanet 74 C1844948
ICD10 via Orphanet 34 Q11.2
MedGen 42 C1844948
UMLS 73 C1844948

Summaries for Microphthalmia, Syndromic 4

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 85275Disease definitionMicrophthalmia-ankyloblepharon-intellectual disabilitysyndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessivetrait.Visit the Orphanet disease page for more resources.

MalaCards based summary : Microphthalmia, Syndromic 4, is also known as mcops4. An important gene associated with Microphthalmia, Syndromic 4 is ANOP1 (Anophthalmos 1 (With Mental Retardation, Without Limb Anomalies Or Dental Or Urogenital Abnormalities)). Affiliated tissues include skin and eye, and related phenotypes are anophthalmia and microphthalmia

Description from OMIM: 301590

Related Diseases for Microphthalmia, Syndromic 4

Symptoms & Phenotypes for Microphthalmia, Syndromic 4

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
cleft palate

Head And Neck Ears:
preauricular skin tags

Head And Neck Eyes:
ankyloblepharon
anophthalmia, clinical
underdeveloped bony orbits

Neurologic Central Nervous System:
mental retardation (iq less than 50)


Clinical features from OMIM:

301590

Human phenotypes related to Microphthalmia, Syndromic 4:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anophthalmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000528
2 microphthalmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000568
3 intellectual disability, mild 59 32 hallmark (90%) Very frequent (99-80%) HP:0001256
4 ankyloblepharon 59 32 hallmark (90%) Very frequent (99-80%) HP:0009755
5 cleft palate 32 HP:0000175
6 preauricular skin tag 32 HP:0000384
7 abnormality of the skeletal system 32 HP:0000924
8 intellectual disability 32 HP:0001249

Drugs & Therapeutics for Microphthalmia, Syndromic 4

Search Clinical Trials , NIH Clinical Center for Microphthalmia, Syndromic 4

Genetic Tests for Microphthalmia, Syndromic 4

Genetic tests related to Microphthalmia, Syndromic 4:

# Genetic test Affiliating Genes
1 Microphthalmia Syndromic 4 29

Anatomical Context for Microphthalmia, Syndromic 4

MalaCards organs/tissues related to Microphthalmia, Syndromic 4:

41
Skin, Eye

Publications for Microphthalmia, Syndromic 4

Variations for Microphthalmia, Syndromic 4

Expression for Microphthalmia, Syndromic 4

Search GEO for disease gene expression data for Microphthalmia, Syndromic 4.

Pathways for Microphthalmia, Syndromic 4

GO Terms for Microphthalmia, Syndromic 4

Sources for Microphthalmia, Syndromic 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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