MCID: MCR324
MIFTS: 24

Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

Categories: Genetic diseases, Eye diseases, Bone diseases, Fetal 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 75 29 6
Microphthalmia, Syndromic 14 57 73
Mcops14 57 75
Mcsks 57 75
Microphthalmia and Coloboma, with or Without Rhizomelic Skeletal Dysplasia 75
Microphthalmia or Coloboma with or Without Rhizomelic Skeletal Dysplasia 57
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 75

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 recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

UniProtKB/Swiss-Prot : 75 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 nystagmus

Description from OMIM: 615877

Related Diseases for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

Symptoms & Phenotypes for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

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)

GenitourinaryInternal GenitaliaMale:
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

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

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

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

Variations for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

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

75
# 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

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 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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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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