MCOPS12
MCID: MCR212
MIFTS: 28

Microphthalmia, Syndromic 12 (MCOPS12)

Categories: Cardiovascular diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Microphthalmia, Syndromic 12

MalaCards integrated aliases for Microphthalmia, Syndromic 12:

Name: Microphthalmia, Syndromic 12 57 29 6 70
Microphthalmia with or Without Pulmonary Hypoplasia, Diaphragmatic Hernia, and/or Cardiac Defects 57 12 20 72
Mcops12 57 12 72
Microphthalmia, Syndromic, Type 12 39
Microphthalmia, Syndromic, 12 72
Syndromic Microphthalmia 12 12
Syndromic Microphthalmia-12 20

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
early lethality in most cases
compound heterozygous mutations have been reported in one family


HPO:

31
microphthalmia, syndromic 12:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Microphthalmia, Syndromic 12

GARD : 20 Syndromic microphthalmia-12 is a genetic syndrome with the main features of small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia). People with this syndrome also have progressive movement disorders that cause s evere global developmental delay. These movement disorders include spasticity and/or dystonia, with or without abnormal quick movements that resemble dancing (chorea). Within the brain, there can be de fects of the cerebellum ( Chiari type I malformation ) and a build up of cerebrospinal fluid (hydrocephaly). This syndrome causes severe feeding problems and language delay. Facial features seen in people with this syndrome include a broad nose, and a very small chin ( micrognathia ). Syndromic microphthalmia-12 is caused by mutations in the RARB gene. Treatment for this syndrome is based on addressing any symptoms that a person experiences.

MalaCards based summary : Microphthalmia, Syndromic 12, is also known as microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects. An important gene associated with Microphthalmia, Syndromic 12 is RARB (Retinoic Acid Receptor Beta). Affiliated tissues include eye, cerebellum and uterus, and related phenotypes are intellectual disability and cryptorchidism

Disease Ontology : 12 A syndromic microphthalmia characterized by bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia that has material basis in compound heterozygous or heterozygous mutation in RARB on chromosome 3p24.2.

UniProtKB/Swiss-Prot : 72 Microphthalmia, syndromic, 12: A form of microphthalmia, a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS12 patients manifest variable features, including diaphragmatic hernia, pulmonary hypoplasia, and cardiac abnormalities.

More information from OMIM: 615524 PS309800

Related Diseases for Microphthalmia, Syndromic 12

Symptoms & Phenotypes for Microphthalmia, Syndromic 12

Human phenotypes related to Microphthalmia, Syndromic 12:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 occasional (7.5%) HP:0001249
2 cryptorchidism 31 occasional (7.5%) HP:0000028
3 ventricular septal defect 31 occasional (7.5%) HP:0001629
4 hypoplastic left atrium 31 occasional (7.5%) HP:0005156
5 wide nasal bridge 31 HP:0000431
6 retrognathia 31 HP:0000278
7 micrognathia 31 HP:0000347
8 anophthalmia 31 HP:0000528
9 microphthalmia 31 HP:0000568
10 congenital diaphragmatic hernia 31 HP:0000776
11 pulmonary hypoplasia 31 HP:0002089
12 broad nasal tip 31 HP:0000455
13 bicornuate uterus 31 HP:0000813

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Face:
retrognathia
micrognathia

Respiratory Lung:
pulmonary hypoplasia

Genitourinary Internal Genitalia Female:
bicornuate uterus

Cardiovascular Heart:
ventricular septal defect (in some patients)
hypoplastic left atrium (in some patients)

Chest Diaphragm:
diaphragmatic hernia

Abdomen Spleen:
small spleen

Head And Neck Eyes:
microphthalmia
anophthalmia, clinical

Head And Neck Nose:
broad nasal tip
broad nasal root

Genitourinary Internal Genitalia Male:
cryptorchidism (in some patients)

Neurologic Central Nervous System:
mental retardation (rare)

Cardiovascular Vascular:
enlarged pulmonary trunk (in some patients)

Abdomen Gastrointestinal:
malrotation of bowel

Clinical features from OMIM®:

615524 (Updated 05-Apr-2021)

Drugs & Therapeutics for Microphthalmia, Syndromic 12

Search Clinical Trials , NIH Clinical Center for Microphthalmia, Syndromic 12

Genetic Tests for Microphthalmia, Syndromic 12

Genetic tests related to Microphthalmia, Syndromic 12:

# Genetic test Affiliating Genes
1 Microphthalmia, Syndromic 12 29 RARB

Anatomical Context for Microphthalmia, Syndromic 12

MalaCards organs/tissues related to Microphthalmia, Syndromic 12:

40
Eye, Cerebellum, Uterus, Spleen

Publications for Microphthalmia, Syndromic 12

Articles related to Microphthalmia, Syndromic 12:

# Title Authors PMID Year
1
Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia. 6 57
24075189 2013
2
Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment. 6 20
27120018 2016
3
Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia. 57
22686418 2013
4
The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance. 57
17506106 2007

Variations for Microphthalmia, Syndromic 12

ClinVar genetic disease variations for Microphthalmia, Syndromic 12:

6 (show all 29)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RARB NM_000965.4(RARB):c.355C>T (p.Arg119Ter) SNV Pathogenic 88760 rs397518481 GRCh37: 3:25542721-25542721
GRCh38: 3:25501230-25501230
2 RARB NM_000965.4(RARB):c.1203_1204TC[3] (p.Ile403fs) Microsatellite Pathogenic 88761 rs397518482 GRCh37: 3:25637961-25637962
GRCh38: 3:25596470-25596471
3 RARB NM_000965.4(RARB):c.1159C>A (p.Arg387Ser) SNV Pathogenic 88763 rs397518483 GRCh37: 3:25637919-25637919
GRCh38: 3:25596428-25596428
4 RARB NM_000965.4(RARB):c.1159C>T (p.Arg387Cys) SNV Pathogenic/Likely pathogenic 88762 rs397518483 GRCh37: 3:25637919-25637919
GRCh38: 3:25596428-25596428
5 RARB NM_000965.4(RARB):c.835T>G (p.Phe279Val) SNV Likely pathogenic 870386 GRCh37: 3:25635042-25635042
GRCh38: 3:25593551-25593551
6 RARB NM_000965.5(RARB):c.1151G>A (p.Gly384Asp) SNV Likely pathogenic 988076 GRCh37: 3:25637911-25637911
GRCh38: 3:25596420-25596420
7 RARB NM_000965.4(RARB):c.887G>C (p.Gly296Ala) SNV Likely pathogenic 218338 rs869025221 GRCh37: 3:25635094-25635094
GRCh38: 3:25593603-25593603
8 RARB NM_000965.4(RARB):c.638T>C (p.Leu213Pro) SNV Likely pathogenic 218339 rs869025222 GRCh37: 3:25622065-25622065
GRCh38: 3:25580574-25580574
9 RARB NM_000965.4(RARB):c.872A>T (p.His291Leu) SNV Likely pathogenic 559901 rs1553637470 GRCh37: 3:25635079-25635079
GRCh38: 3:25593588-25593588
10 RARB NM_001290216.2(RARB):c.1201G>T (p.Glu401Ter) SNV Likely pathogenic 800775 rs1575553528 GRCh37: 3:25637940-25637940
GRCh38: 3:25596449-25596449
11 RARB NC_000003.12:g.(?_25569738)_(25596636_?)dup Duplication Uncertain significance 830946 GRCh37: 3:25611229-25638127
GRCh38:
12 RARB NM_000965.4(RARB):c.841G>T (p.Asp281Tyr) SNV Uncertain significance 842240 GRCh37: 3:25635048-25635048
GRCh38: 3:25593557-25593557
13 RARB NM_000965.4(RARB):c.806G>C (p.Arg269Thr) SNV Uncertain significance 862649 GRCh37: 3:25635013-25635013
GRCh38: 3:25593522-25593522
14 RARB NM_000965.4(RARB):c.1211A>C (p.Gln404Pro) SNV Uncertain significance 567090 rs1559485305 GRCh37: 3:25637971-25637971
GRCh38: 3:25596480-25596480
15 RARB NM_000965.4(RARB):c.851C>T (p.Thr284Ile) SNV Uncertain significance 664808 rs1575550287 GRCh37: 3:25635058-25635058
GRCh38: 3:25593567-25593567
16 RARB NM_000965.4(RARB):c.409C>T (p.Arg137Ter) SNV Uncertain significance 488977 rs1553624279 GRCh37: 3:25542775-25542775
GRCh38: 3:25501284-25501284
17 RARB NM_000965.5(RARB):c.836T>C (p.Phe279Ser) SNV Uncertain significance 936633 GRCh37: 3:25635043-25635043
GRCh38: 3:25593552-25593552
18 RARB NC_000003.11:g.(?_25611229)_(25638127_?)dup Duplication Uncertain significance 1003191 GRCh37: 3:25611229-25638127
GRCh38:
19 RARB NM_000965.5(RARB):c.224dup (p.Arg76fs) Duplication Uncertain significance 1035194 GRCh37: 3:25502745-25502746
GRCh38: 3:25461254-25461255
20 RARB NM_000965.4(RARB):c.410G>A (p.Arg137Gln) SNV Uncertain significance 541542 rs1387195672 GRCh37: 3:25542776-25542776
GRCh38: 3:25501285-25501285
21 RARB NM_000965.4(RARB):c.1038A>G (p.Glu346=) SNV Likely benign 774994 rs760433691 GRCh37: 3:25636057-25636057
GRCh38: 3:25594566-25594566
22 RARB NM_000965.4(RARB):c.991+10A>G SNV Likely benign 783192 rs772873447 GRCh37: 3:25635208-25635208
GRCh38: 3:25593717-25593717
23 RARB NM_000965.4(RARB):c.288C>T (p.Ser96=) SNV Likely benign 738015 rs138872395 GRCh37: 3:25502814-25502814
GRCh38: 3:25461323-25461323
24 RARB NM_000965.4(RARB):c.960C>A (p.Gly320=) SNV Benign 755841 rs775637491 GRCh37: 3:25635167-25635167
GRCh38: 3:25593676-25593676
25 RARB NM_000965.4(RARB):c.768C>T (p.Ala256=) SNV Benign 767504 rs115482149 GRCh37: 3:25622195-25622195
GRCh38: 3:25580704-25580704
26 RARB NM_000965.4(RARB):c.270G>A (p.Gly90=) SNV Benign 772966 rs116825683 GRCh37: 3:25502796-25502796
GRCh38: 3:25461305-25461305
27 RARB NM_000965.4(RARB):c.1316G>C (p.Ser439Thr) SNV Benign 707365 rs368432868 GRCh37: 3:25638076-25638076
GRCh38: 3:25596585-25596585
28 RARB NM_000965.4(RARB):c.158-9C>G SNV Benign 707589 rs78470280 GRCh37: 3:25502675-25502675
GRCh38: 3:25461184-25461184
29 RARB NM_000965.4(RARB):c.1155A>G (p.Ala385=) SNV Benign 474675 rs61733682 GRCh37: 3:25637915-25637915
GRCh38: 3:25596424-25596424

UniProtKB/Swiss-Prot genetic disease variations for Microphthalmia, Syndromic 12:

72
# Symbol AA change Variation ID SNP ID
1 RARB p.Arg394Cys VAR_070780
2 RARB p.Arg394Ser VAR_070781
3 RARB p.Leu220Pro VAR_077141
4 RARB p.Gly303Ala VAR_077142

Expression for Microphthalmia, Syndromic 12

Search GEO for disease gene expression data for Microphthalmia, Syndromic 12.

Pathways for Microphthalmia, Syndromic 12

GO Terms for Microphthalmia, Syndromic 12

Sources for Microphthalmia, Syndromic 12

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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30 HMDB
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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