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 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:

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

See all MalaCards categories (disease lists)

ICD10: ³³

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: ⁵⁸

Rare eye diseases

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁶ 615877

OMIM Phenotypic Series ⁵⁶ PS309800

MeSH ⁴³ D008850

ICD10 via Orphanet ³³ Q87.5

Orphanet ⁵⁸ ORPHA424099

MedGen ⁴¹ C4014540 CN189715

UMLS ⁷¹ C4014540

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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

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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:

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

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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 ²⁹	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:

⁴⁰

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	PMID	Year
1	Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts. ⁵⁶ ⁶	Deml B...Semina EV	25719200	2015
2	Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. ⁵⁶ ⁶	Rainger J...FitzPatrick DR	24906020	2014
3	A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation. ⁵⁶	Horn D...Spranger J	26116559	2015

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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	1668.79	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	24906020 25719200
2	LRBA	LPS Responsive Beige-Like Anchor Protein	Protein Coding	8.64	GeneCards inferred via : Variants (show sections)

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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

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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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⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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

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

UniProtKB/Swiss-Prot 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