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 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:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

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: ⁵⁹

Rare eye diseases

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 615877

Orphanet ⁵⁹ ORPHA424099

ICD10 via Orphanet ³⁴ Q87.5

MedGen ⁴² C4014540 CN189715

MeSH ⁴⁴ D008850

UMLS ⁷³ C4014540

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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

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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

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

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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:

⁴¹

Bone, Eye

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Publications for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome

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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	1678.98	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)
2	LRBA	LPS Responsive Beige-Like Anchor Protein	Protein Coding	18.67	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:

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

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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

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⁷¹ TGDB

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⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia