MCSKS
MCID: MCR324
MIFTS: 25
|
Microphthalmia/coloboma and Skeletal Dysplasia Syndrome (MCSKS)
Categories:
Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
|
|
MalaCards integrated aliases for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome:
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 dominant inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Eye diseases Bone diseases
ICD10:
34
|
UniProtKB/Swiss-Prot
:
74
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 |
|
Human phenotypes related to Microphthalmia/coloboma and Skeletal Dysplasia Syndrome:32 (show all 19)
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:615877 |
|
MalaCards organs/tissues related to Microphthalmia/coloboma and Skeletal Dysplasia Syndrome:41
Bone,
Eye
|
Articles related to Microphthalmia/coloboma and Skeletal Dysplasia Syndrome:
|
ClinVar genetic disease variations for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome:6
UniProtKB/Swiss-Prot genetic disease variations for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome:74
|
Search
GEO
for disease gene expression data for Microphthalmia/coloboma and Skeletal Dysplasia Syndrome.
|
|
|