MCSKS
MCID: MCR324
MIFTS: 25

Microphthalmia/coloboma and Skeletal Dysplasia Syndrome (MCSKS)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

MalaCards integrated aliases for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome:

Name: Microphthalmia/coloboma and Skeletal Dysplasia Syndrome 56 73 29 6
Microphthalmia, Syndromic 14 56 71
Mcops14 56 73
Mcsks 56 73
Microphthalmia and/or Coloboma with or Without Rhizomelic Skeletal Dysplasia 56
Microphthalmia and Coloboma, with or Without Rhizomelic Skeletal Dysplasia 73
Colobomatous Microphthalmia-Rhizomelic Dysplasia Syndrome 58
Microphthalmia-Coloboma-Rhizomelic Skeletal Dysplasia 58
Microphthalmia, Syndromic 14; Mcops14 56
Microphthalmia, Syndromic, Type 14 39
Microphthalmia, Syndromic, 14 73

Characteristics:

Orphanet epidemiological data:

58
colobomatous microphthalmia-rhizomelic dysplasia syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant
autosomal recessive (1 family)

Miscellaneous:
homozygous mutation reported in 1 family, in which heterozygous parents had normal vision and ocular examination


HPO:

31
microphthalmia/coloboma and skeletal dysplasia syndrome:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

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


Summaries for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

UniProtKB/Swiss-Prot : 73 Microphthalmia/coloboma and skeletal dysplasia syndrome: A disease characterized by bilateral colobomatous microphthalmia or bilateral anophthalmia, associated with skeletal dysplasia in some cases. Additional ocular findings include microcornea, cataracts, corectopia and nystagmus. Intellectual disability is present in some patients.

MalaCards based summary : Microphthalmia/coloboma and Skeletal Dysplasia Syndrome, is also known as microphthalmia, syndromic 14. An important gene associated with Microphthalmia/coloboma and Skeletal Dysplasia Syndrome is MAB21L2 (Mab-21 Like 2). Affiliated tissues include bone and eye, and related phenotypes are macrocephaly and precocious puberty

More information from OMIM: 615877 PS309800

Related Diseases for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

Symptoms & Phenotypes for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

Human phenotypes related to Microphthalmia/coloboma and Skeletal Dysplasia Syndrome:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 occasional (7.5%) HP:0000256
2 precocious puberty 31 occasional (7.5%) HP:0000826
3 pes planus 31 occasional (7.5%) HP:0001763
4 intellectual disability, moderate 31 occasional (7.5%) HP:0002342
5 rhizomelia 31 occasional (7.5%) HP:0008905
6 hypospadias 31 occasional (7.5%) HP:0000047
7 sclerocornea 31 occasional (7.5%) HP:0000647
8 microcornea 31 occasional (7.5%) HP:0000482
9 nystagmus 31 HP:0000639
10 cataract 31 HP:0000518
11 prominent forehead 31 HP:0011220
12 strabismus 31 HP:0000486
13 epicanthus 31 HP:0000286
14 periorbital fullness 31 HP:0000629
15 microphthalmia 31 HP:0000568
16 anophthalmia 31 HP:0000528
17 long eyelashes 31 HP:0000527
18 ectopia pupillae 31 HP:0009918
19 coloboma 31 HP:0000589

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
nystagmus
cataract
microcornea
coloboma
corectopia
more
Head And Neck Head:
macrocephaly (rare)

Neurologic Central Nervous System:
intellectual disability, moderate (in some patients)

Genitourinary Internal Genitalia Male:
undescended testicles (rare)

Skeletal Hands:
cutaneous syndactyly of fingers 3 and 4 (rare)

Muscle Soft Tissue:
wasting of calf muscles (rare)

Endocrine Features:
precocious puberty (rare)

Genitourinary External Genitalia Male:
hypospadias (rare)

Skeletal Skull:
macrocephaly (rare)

Head And Neck Face:
prominent forehead (in 2 brothers with homozygous mutation)
long prominent philtrum (in 2 brothers with homozygous mutation)

Skeletal Limbs:
contractures of large joints (in some patients)
hypoplastic femoral condyles (in some patients)
rhizomelia (in some patients)
shortness of long bones, mild (in some patients)
decreased tubulation of long bones (rare)
more
Skeletal Feet:
cutaneous syndactyly of toes 2 and 3 (rare)
pes planus (rare)

Neurologic Behavioral Psychiatric Manifestations:
autistic spectrum disorder (rare)

Clinical features from OMIM:

615877

Drugs & Therapeutics for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

Search Clinical Trials , NIH Clinical Center for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

Genetic Tests for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

Genetic tests related to Microphthalmia/coloboma and Skeletal Dysplasia Syndrome:

# Genetic test Affiliating Genes
1 Microphthalmia/coloboma and Skeletal Dysplasia Syndrome 29 MAB21L2

Anatomical Context for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

MalaCards organs/tissues related to Microphthalmia/coloboma and Skeletal Dysplasia Syndrome:

40
Bone, Eye

Publications for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

Articles related to Microphthalmia/coloboma and Skeletal Dysplasia Syndrome:

# Title Authors PMID Year
1
Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts. 56 6
25719200 2015
2
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. 56 6
24906020 2014
3
A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation. 56
26116559 2015

Variations for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

ClinVar genetic disease variations for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MAB21L2 NM_006439.5(MAB21L2):c.151C>G (p.Arg51Gly)SNV Pathogenic 427785 rs587777512 4:151504332-151504332 4:150583180-150583180
2 MAB21L2 NM_006439.5(MAB21L2):c.152G>A (p.Arg51His)SNV Likely pathogenic 139620 rs587777511 4:151504333-151504333 4:150583181-150583181
3 MAB21L2 NM_006439.5(MAB21L2):c.151C>T (p.Arg51Cys)SNV Likely pathogenic 139621 rs587777512 4:151504332-151504332 4:150583180-150583180
4 MAB21L2 NM_006439.5(MAB21L2):c.145G>A (p.Glu49Lys)SNV Likely pathogenic 139622 rs587777513 4:151504326-151504326 4:150583174-150583174
5 MAB21L2 NM_006439.5(MAB21L2):c.740G>A (p.Arg247Gln)SNV Likely pathogenic 139623 rs587777514 4:151504921-151504921 4:150583769-150583769

UniProtKB/Swiss-Prot genetic disease variations for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 MAB21L2 p.Glu49Lys VAR_071831 rs587777513
2 MAB21L2 p.Arg51Cys VAR_071832 rs587777512
3 MAB21L2 p.Arg51His VAR_071833 rs587777511
4 MAB21L2 p.Arg247Gln VAR_071834 rs587777514
5 MAB21L2 p.Arg51Gly VAR_079053 rs587777512

Expression for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

Search GEO for disease gene expression data for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome.

Pathways for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

GO Terms for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

Sources for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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