MCID: MCR212
MIFTS: 25

Microphthalmia, Syndromic 12

Categories: Genetic diseases, Rare diseases, Eye diseases, Endocrine diseases, Fetal diseases, Neuronal diseases, Cardiovascular diseases, Mental diseases, Respiratory diseases, Reproductive diseases, Ear diseases

Aliases & Classifications for Microphthalmia, Syndromic 12

MalaCards integrated aliases for Microphthalmia, Syndromic 12:

Name: Microphthalmia, Syndromic 12 57 29 6 73
Microphthalmia with or Without Pulmonary Hypoplasia, Diaphragmatic Hernia, and/or Cardiac Defects 57 53 75
Mcops12 57 75
Microphthalmia, Syndromic, Type 12 40
Microphthalmia, Syndromic, 12 75
Syndromic Microphthalmia-12 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

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


HPO:

32
microphthalmia, syndromic 12:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Microphthalmia, Syndromic 12

NIH Rare Diseases : 53 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 severe 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 defects 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 lung, cerebellum and brain, and related phenotypes are cryptorchidism and retrognathia

UniProtKB/Swiss-Prot : 75 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.

Description from OMIM: 615524

Related Diseases for Microphthalmia, Syndromic 12

Symptoms & Phenotypes for Microphthalmia, Syndromic 12

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
micrognathia
retrognathia

Head And Neck Nose:
broad nasal tip
broad nasal root

Genitourinary Internal Genitalia Female:
bicornuate uterus

GenitourinaryInternal GenitaliaMale:
cryptorchidism (in some patients)

Chest Diaphragm:
diaphragmatic hernia

AbdomenSpleen:
small spleen

Head And Neck Eyes:
microphthalmia
anophthalmia, clinical

Respiratory Lung:
pulmonary hypoplasia

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

Human phenotypes related to Microphthalmia, Syndromic 12:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 occasional (7.5%) HP:0000028
2 retrognathia 32 HP:0000278
3 micrognathia 32 HP:0000347
4 wide nasal bridge 32 HP:0000431
5 broad nasal tip 32 HP:0000455
6 anophthalmia 32 HP:0000528
7 microphthalmia 32 HP:0000568
8 congenital diaphragmatic hernia 32 HP:0000776
9 bicornuate uterus 32 HP:0000813
10 intellectual disability 32 occasional (7.5%) HP:0001249
11 ventricular septal defect 32 occasional (7.5%) HP:0001629
12 pulmonary hypoplasia 32 HP:0002089
13 hypoplastic left atrium 32 occasional (7.5%) HP:0005156

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:

41
Lung, Cerebellum, Brain, Eye, Uterus, Spleen

Publications for Microphthalmia, Syndromic 12

Variations for Microphthalmia, Syndromic 12

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

75
# 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

ClinVar genetic disease variations for Microphthalmia, Syndromic 12:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 RARB NM_000965.4(RARB): c.355C> T (p.Arg119Ter) single nucleotide variant Pathogenic rs397518481 GRCh37 Chromosome 3, 25542721: 25542721
2 RARB NM_000965.4(RARB): c.355C> T (p.Arg119Ter) single nucleotide variant Pathogenic rs397518481 GRCh38 Chromosome 3, 25501230: 25501230
3 RARB NM_000965.4(RARB): c.1205_1206dupTC (p.Ile403Serfs) duplication Pathogenic rs397518482 GRCh37 Chromosome 3, 25637965: 25637966
4 RARB NM_000965.4(RARB): c.1205_1206dupTC (p.Ile403Serfs) duplication Pathogenic rs397518482 GRCh38 Chromosome 3, 25596474: 25596475
5 RARB NM_000965.4(RARB): c.1159C> T (p.Arg387Cys) single nucleotide variant Pathogenic rs397518483 GRCh37 Chromosome 3, 25637919: 25637919
6 RARB NM_000965.4(RARB): c.1159C> T (p.Arg387Cys) single nucleotide variant Pathogenic rs397518483 GRCh38 Chromosome 3, 25596428: 25596428
7 RARB NM_000965.4(RARB): c.1159C> A (p.Arg387Ser) single nucleotide variant Pathogenic rs397518483 GRCh37 Chromosome 3, 25637919: 25637919
8 RARB NM_000965.4(RARB): c.1159C> A (p.Arg387Ser) single nucleotide variant Pathogenic rs397518483 GRCh38 Chromosome 3, 25596428: 25596428
9 RARB NM_000965.4(RARB): c.638T> C (p.Leu213Pro) single nucleotide variant Likely pathogenic rs869025222 GRCh38 Chromosome 3, 25580574: 25580574
10 RARB NM_000965.4(RARB): c.638T> C (p.Leu213Pro) single nucleotide variant Likely pathogenic rs869025222 GRCh37 Chromosome 3, 25622065: 25622065
11 RARB NM_000965.4(RARB): c.887G> C (p.Gly296Ala) single nucleotide variant Likely pathogenic rs869025221 GRCh38 Chromosome 3, 25593603: 25593603
12 RARB NM_000965.4(RARB): c.887G> C (p.Gly296Ala) single nucleotide variant Likely pathogenic rs869025221 GRCh37 Chromosome 3, 25635094: 25635094
13 RARB NM_000965.4(RARB): c.1155A> G (p.Ala385=) single nucleotide variant Benign rs61733682 GRCh38 Chromosome 3, 25596424: 25596424
14 RARB NM_000965.4(RARB): c.1155A> G (p.Ala385=) single nucleotide variant Benign rs61733682 GRCh37 Chromosome 3, 25637915: 25637915
15 RARB NM_000965.4(RARB): c.410G> A (p.Arg137Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 25501285: 25501285
16 RARB NM_000965.4(RARB): c.410G> A (p.Arg137Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 25542776: 25542776

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

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