STL4
MCID: STC012
MIFTS: 21
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Stickler Syndrome, Type Iv (STL4)
Categories:
Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Stickler Syndrome, Type Iv:
Characteristics:HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Eye diseases Bone diseases Ear diseases |
UniProtKB/Swiss-Prot
:
75
Stickler syndrome 4: An autosomal recessive form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable.
MalaCards based summary : Stickler Syndrome, Type Iv, is also known as stickler syndrome, type 4. An important gene associated with Stickler Syndrome, Type Iv is COL9A1 (Collagen Type IX Alpha 1 Chain). Affiliated tissues include bone, tongue and eye, and related phenotypes are genu valgum and sensorineural hearing impairment
Description from OMIM:
614134
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Diseases in the Stickler Syndrome family:
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Human phenotypes related to Stickler Syndrome, Type Iv:32 (show all 10)
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MalaCards organs/tissues related to Stickler Syndrome, Type Iv:41
Bone,
Tongue,
Eye
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ClinVar genetic disease variations for Stickler Syndrome, Type Iv:6
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Search
GEO
for disease gene expression data for Stickler Syndrome, Type Iv.
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