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MCID: MCR212
MIFTS: 25
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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
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MalaCards integrated aliases for Microphthalmia, Syndromic 12:
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:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Eye diseases Endocrine diseases Neuronal diseases Cardiovascular diseases Mental diseases Respiratory diseases Reproductive diseases Ear diseases |
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NIH Rare Diseases
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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
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:615524Human phenotypes related to Microphthalmia, Syndromic 12:32 (show all 13)
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MalaCards organs/tissues related to Microphthalmia, Syndromic 12:41
Lung,
Cerebellum,
Brain,
Eye,
Uterus,
Spleen
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Genes related to Microphthalmia, Syndromic 12 (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Microphthalmia, Syndromic 12:75
ClinVar genetic disease variations for Microphthalmia, Syndromic 12:6
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Search
GEO
for disease gene expression data for Microphthalmia, Syndromic 12.
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