MCID: MCR245
MIFTS: 27

Microphthalmia, Syndromic 8

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

Aliases & Classifications for Microphthalmia, Syndromic 8

MalaCards integrated aliases for Microphthalmia, Syndromic 8:

Name: Microphthalmia, Syndromic 8 57 13 73
Mcops8 57 53 59 75
Mmep Syndrome 53 59 75
Mmep 57 53 75
Syndromic Microphthalmia Type 8 53 59
Microphthalmia Syndromic 8 53 29
Viljoen-Smart Syndrome 59 75
Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism; Mmep 57
Microcephaly-Microphthalmia-Ectrodactyly of Lower Limbs-Prognathism Syndrome 59
Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism 57
Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs and Prognathism 75
Microcephaly Microphthalmia Ectrodactyly of Lower Limbs and Prognathism 53
Microphthalmia, Syndromic, 8 75
Viljoen Smart Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
mmep syndrome
Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
? autosomal dominant


Classifications:



Summaries for Microphthalmia, Syndromic 8

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3434Disease definitionThe MMEP syndrome is a congenital syndromic form of split-hand/foot malformation (SHFM; see this term). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies.Visit the Orphanet disease page for more resources.

MalaCards based summary : Microphthalmia, Syndromic 8, also known as mcops8, is related to microphthalmia and microcephaly. An important gene associated with Microphthalmia, Syndromic 8 is SNX3 (Sorting Nexin 3). Affiliated tissues include eye and skin, and related phenotypes are intellectual disability and mandibular prognathia

UniProtKB/Swiss-Prot : 75 Microphthalmia, syndromic, 8: A very rare congenital syndrome characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities.

Description from OMIM: 601349

Related Diseases for Microphthalmia, Syndromic 8

Diseases in the Microphthalmia, Syndromic 3 family:

Microphthalmia, Syndromic 2 Microphthalmia, Syndromic 13
Microphthalmia, Syndromic 4 Microphthalmia, Syndromic 1
Microphthalmia, Syndromic 9 Microphthalmia, Syndromic 8
Microphthalmia, Syndromic 6 Microphthalmia, Syndromic 5
Microphthalmia, Syndromic 10 Microphthalmia, Syndromic 11
Microphthalmia, Syndromic 12

Diseases related to Microphthalmia, Syndromic 8 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 microphthalmia 10.2
2 microcephaly 10.2

Symptoms & Phenotypes for Microphthalmia, Syndromic 8

Symptoms via clinical synopsis from OMIM:

57
GU:
cryptorchidism

Mouth:
cleft lip/palate

Neuro:
mental retardation

Head:
borderline microcephaly

Teeth:
wide gap between upper central incisors

Eyes:
microphthalmia
microcornea
short palpebral fissures

Mandible:
prognathism

Limbs:
ectrodactyly of feet

Skin:
premature skin aging

Lab:
de novo translocation 46,xx,t(6,13)(q21,q12)


Clinical features from OMIM:

601349

Human phenotypes related to Microphthalmia, Syndromic 8:

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 mandibular prognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000303
3 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
4 visual impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000505
5 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
6 microphthalmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000568
7 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
8 triphalangeal thumb 59 32 frequent (33%) Frequent (79-30%) HP:0001199
9 oral cleft 59 32 Very frequent (99-80%) HP:0000202
10 median cleft lip 59 32 hallmark (90%) Very frequent (99-80%) HP:0000161
11 split foot 59 32 hallmark (90%) Very frequent (99-80%) HP:0001839
12 cleft palate 32 HP:0000175
13 blepharophimosis 32 HP:0000581
14 cleft upper lip 32 HP:0000204
15 microcornea 32 HP:0000482
16 short palpebral fissure 32 HP:0012745
17 premature skin wrinkling 32 HP:0100678
18 widely-spaced maxillary central incisors 32 HP:0001566

Drugs & Therapeutics for Microphthalmia, Syndromic 8

Search Clinical Trials , NIH Clinical Center for Microphthalmia, Syndromic 8

Genetic Tests for Microphthalmia, Syndromic 8

Genetic tests related to Microphthalmia, Syndromic 8:

# Genetic test Affiliating Genes
1 Microphthalmia Syndromic 8 29

Anatomical Context for Microphthalmia, Syndromic 8

MalaCards organs/tissues related to Microphthalmia, Syndromic 8:

41
Eye, Skin

Publications for Microphthalmia, Syndromic 8

Variations for Microphthalmia, Syndromic 8

Expression for Microphthalmia, Syndromic 8

Search GEO for disease gene expression data for Microphthalmia, Syndromic 8.

Pathways for Microphthalmia, Syndromic 8

GO Terms for Microphthalmia, Syndromic 8

Sources for Microphthalmia, Syndromic 8

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
Content
Loading form....