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 58 76 30 6
Microphthalmia, Syndromic 14 58 74
Mcops14 58 76
Mcsks 58 76
Microphthalmia and Coloboma, with or Without Rhizomelic Skeletal Dysplasia 76
Microphthalmia or Coloboma with or Without Rhizomelic Skeletal Dysplasia 58
Colobomatous Microphthalmia-Rhizomelic Dysplasia Syndrome 60
Microphthalmia-Coloboma-Rhizomelic Skeletal Dysplasia 60
Microphthalmia, Syndromic 14; Mcops14 58
Microphthalmia, Syndromic, Type 14 41
Microphthalmia, Syndromic, 14 76

Characteristics:

Orphanet epidemiological data:

60
colobomatous microphthalmia-rhizomelic dysplasia syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
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:

33
microphthalmia/coloboma and skeletal dysplasia syndrome:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

UniProtKB/Swiss-Prot : 76 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

Description from OMIM: 615877

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:

33 (show all 19)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 33 occasional (7.5%) HP:0000256
2 precocious puberty 33 occasional (7.5%) HP:0000826
3 pes planus 33 occasional (7.5%) HP:0001763
4 intellectual disability, moderate 33 occasional (7.5%) HP:0002342
5 rhizomelia 33 occasional (7.5%) HP:0008905
6 hypospadias 33 occasional (7.5%) HP:0000047
7 sclerocornea 33 occasional (7.5%) HP:0000647
8 microcornea 33 occasional (7.5%) HP:0000482
9 nystagmus 33 HP:0000639
10 cataract 33 HP:0000518
11 prominent forehead 33 HP:0011220
12 strabismus 33 HP:0000486
13 epicanthus 33 HP:0000286
14 periorbital fullness 33 HP:0000629
15 microphthalmia 33 HP:0000568
16 long eyelashes 33 HP:0000527
17 anophthalmia 33 HP:0000528
18 ectopia pupillae 33 HP:0009918
19 coloboma 33 HP:0000589

Symptoms via clinical synopsis from OMIM:

58
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 30 MAB21L2

Anatomical Context for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

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

42
Bone, Eye

Publications for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

Articles related to Microphthalmia/coloboma and Skeletal Dysplasia Syndrome:

# Title Authors Year
1
Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts. ( 25719200 )
2015
2
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. ( 24906020 )
2014

Variations for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

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

76
# 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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MAB21L2 NM_006439.4(MAB21L2): c.152G> A (p.Arg51His) single nucleotide variant Likely pathogenic rs587777511 GRCh37 Chromosome 4, 151504333: 151504333
2 MAB21L2 NM_006439.4(MAB21L2): c.152G> A (p.Arg51His) single nucleotide variant Likely pathogenic rs587777511 GRCh38 Chromosome 4, 150583181: 150583181
3 MAB21L2 NM_006439.4(MAB21L2): c.151C> T (p.Arg51Cys) single nucleotide variant Likely pathogenic rs587777512 GRCh37 Chromosome 4, 151504332: 151504332
4 MAB21L2 NM_006439.4(MAB21L2): c.151C> T (p.Arg51Cys) single nucleotide variant Likely pathogenic rs587777512 GRCh38 Chromosome 4, 150583180: 150583180
5 MAB21L2 NM_006439.4(MAB21L2): c.145G> A (p.Glu49Lys) single nucleotide variant Likely pathogenic rs587777513 GRCh37 Chromosome 4, 151504326: 151504326
6 MAB21L2 NM_006439.4(MAB21L2): c.145G> A (p.Glu49Lys) single nucleotide variant Likely pathogenic rs587777513 GRCh38 Chromosome 4, 150583174: 150583174
7 MAB21L2 NM_006439.4(MAB21L2): c.740G> A (p.Arg247Gln) single nucleotide variant Likely pathogenic rs587777514 GRCh37 Chromosome 4, 151504921: 151504921
8 MAB21L2 NM_006439.4(MAB21L2): c.740G> A (p.Arg247Gln) single nucleotide variant Likely pathogenic rs587777514 GRCh38 Chromosome 4, 150583769: 150583769
9 MAB21L2 NM_006439.4(MAB21L2): c.151C> G (p.Arg51Gly) single nucleotide variant Pathogenic rs587777512 GRCh37 Chromosome 4, 151504332: 151504332
10 MAB21L2 NM_006439.4(MAB21L2): c.151C> G (p.Arg51Gly) single nucleotide variant Pathogenic rs587777512 GRCh38 Chromosome 4, 150583180: 150583180

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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