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 57 74 29 6
Microphthalmia, Syndromic 14 57 72
Mcops14 57 74
Mcsks 57 74
Microphthalmia and/or Coloboma with or Without Rhizomelic Skeletal Dysplasia 57
Microphthalmia and Coloboma, with or Without Rhizomelic Skeletal Dysplasia 74
Colobomatous Microphthalmia-Rhizomelic Dysplasia Syndrome 59
Microphthalmia-Coloboma-Rhizomelic Skeletal Dysplasia 59
Microphthalmia, Syndromic 14; Mcops14 57
Microphthalmia, Syndromic, Type 14 40
Microphthalmia, Syndromic, 14 74

Characteristics:

Orphanet epidemiological data:

59
colobomatous microphthalmia-rhizomelic dysplasia syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
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:

32
microphthalmia/coloboma and skeletal dysplasia syndrome:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

MeSH 44 D008850
ICD10 via Orphanet 34 Q87.5
Orphanet 59 ORPHA424099
UMLS 72 C4014540

Summaries for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

UniProtKB/Swiss-Prot : 74 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:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 occasional (7.5%) HP:0000256
2 precocious puberty 32 occasional (7.5%) HP:0000826
3 pes planus 32 occasional (7.5%) HP:0001763
4 intellectual disability, moderate 32 occasional (7.5%) HP:0002342
5 rhizomelia 32 occasional (7.5%) HP:0008905
6 hypospadias 32 occasional (7.5%) HP:0000047
7 sclerocornea 32 occasional (7.5%) HP:0000647
8 microcornea 32 occasional (7.5%) HP:0000482
9 nystagmus 32 HP:0000639
10 cataract 32 HP:0000518
11 prominent forehead 32 HP:0011220
12 strabismus 32 HP:0000486
13 epicanthus 32 HP:0000286
14 periorbital fullness 32 HP:0000629
15 microphthalmia 32 HP:0000568
16 anophthalmia 32 HP:0000528
17 long eyelashes 32 HP:0000527
18 ectopia pupillae 32 HP:0009918
19 coloboma 32 HP:0000589

Symptoms via clinical synopsis from OMIM:

57
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:

41
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. 8 71
25719200 2015
2
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. 8 71
24906020 2014
3
A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation. 8
26116559 2015

Variations for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

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

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

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

74
# 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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