Microphthalmia/coloboma and Skeletal Dysplasia Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Eye diseases Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other congenital malformation syndromes with other skeletal changes

Orphanet: ⁶⁰

Rare eye diseases

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁸ 615877

MeSH ⁴⁵ D008850

ICD10 via Orphanet ³⁵ Q87.5

Orphanet ⁶⁰ ORPHA424099

MedGen ⁴³ C4014540 CN189715

UMLS ⁷⁴ C4014540

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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

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Related Diseases for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

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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

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Drugs & Therapeutics for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

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

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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

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Anatomical Context for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

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

⁴²

Bone, Eye

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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 )	Deml B...Semina EV	2015
2	Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. ( 24906020 )	Rainger J...FitzPatrick DR	2014

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Genes for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

Genes related to Microphthalmia/coloboma and Skeletal Dysplasia Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MAB21L2	Mab-21 Like 2	Protein Coding	1678.79	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)
2	LRBA	LPS Responsive Beige-Like Anchor Protein	Protein Coding	18.57	GeneCards inferred via : Variants (show sections)

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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

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Expression for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

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

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Pathways for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

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GO Terms for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

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Sources for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

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¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Microphthalmia/coloboma and Skeletal Dysplasia Syndrome (MCSKS)

Aliases & Classifications for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

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

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

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:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics 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:

Anatomical Context for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

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

Publications for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

Articles related to Microphthalmia/coloboma and Skeletal Dysplasia Syndrome:

Genes for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

Genes related to Microphthalmia/coloboma and Skeletal Dysplasia Syndrome (1 elite genes):

Variations for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

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

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

Expression 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