RTSC2
MCID: RTS002
MIFTS: 36
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Ritscher-Schinzel Syndrome 2 (RTSC2)
Categories:
Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Ritscher-Schinzel Syndrome 2:Characteristics:OMIM:56
Miscellaneous:
two unrelated families have been reported (last curated november 2015) variable features
Inheritance:
x-linked recessive HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases |
OMIM :
56
Ritscher-Schinzel syndrome-2 is an X-linked recessive syndromic form of intellectual disability associated with posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities (summary by Kolanczyk et al., 2015).
For a discussion of genetic heterogeneity of Ritscher-Schinzel syndrome, see RTSC1 (220210). (300963)
MalaCards based summary : Ritscher-Schinzel Syndrome 2, also known as rtsc2, is related to ritscher-schinzel syndrome and childhood disintegrative disease. An important gene associated with Ritscher-Schinzel Syndrome 2 is CCDC22 (Coiled-Coil Domain Containing 22), and among its related pathways/superpathways are G-protein signaling_Regulation of CDC42 activity and Regulation of CDC42 activity. Affiliated tissues include brain, heart and tongue, and related phenotypes are global developmental delay and hypertelorism Disease Ontology : 12 A Ritscher-Schinzel syndrome that has material basis in mutation in the CCDC22 gene on chromosome Xp11. UniProtKB/Swiss-Prot : 73 Ritscher-Schinzel syndrome 2: A form of Ritscher-Schinzel syndrome, a developmental malformation syndrome characterized by intellectual disability, cerebellar brain malformations, congenital heart defects, and craniofacial abnormalities. |
Human phenotypes related to Ritscher-Schinzel Syndrome 2:31 (show all 25)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:300963 |
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MalaCards organs/tissues related to Ritscher-Schinzel Syndrome 2:40
Brain,
Heart,
Tongue
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Articles related to Ritscher-Schinzel Syndrome 2:
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ClinVar genetic disease variations for Ritscher-Schinzel Syndrome 2:6
UniProtKB/Swiss-Prot genetic disease variations for Ritscher-Schinzel Syndrome 2:73
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Search
GEO
for disease gene expression data for Ritscher-Schinzel Syndrome 2.
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Cellular components related to Ritscher-Schinzel Syndrome 2 according to GeneCards Suite gene sharing:
Biological processes related to Ritscher-Schinzel Syndrome 2 according to GeneCards Suite gene sharing:
Molecular functions related to Ritscher-Schinzel Syndrome 2 according to GeneCards Suite gene sharing:
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