MCID: CHR390
MIFTS: 38
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Chromosome 14q11-Q22 Deletion Syndrome
Categories:
Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Chromosome 14q11-Q22 Deletion Syndrome:
Characteristics:Orphanet epidemiological data:58
14q11.2 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM:56
Inheritance:
isolated cases
Miscellaneous:
contiguous gene deletion syndrome variable features HPO:31Classifications:
ICD10:
33
Orphanet: 58
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Disease Ontology :
12
A chromosomal deletion syndrome that is characterized by microcephaly, dysmorphic facies, psychomotor delay and failure to thrive, has material basis in isolated cases of partial deletion of the long arm of chromosome 14.
MalaCards based summary : Chromosome 14q11-Q22 Deletion Syndrome, also known as 14q11.2 microdeletion syndrome, is related to mucinous lung adenocarcinoma and lung carcinoma in situ, and has symptoms including seizures and muscle spasticity. An important gene associated with Chromosome 14q11-Q22 Deletion Syndrome is DEL14Q11Q22 (Chromosome 14q11-Q22 Deletion Syndrome), and among its related pathways/superpathways are T-Cell Receptor and Co-stimulatory Signaling and Serotonin Receptor 2 and ELK-SRF/GATA4 signaling. Affiliated tissues include eye, brain and lung, and related phenotypes are depressed nasal bridge and hypertelorism
More information from OMIM:
613457
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Diseases related to Chromosome 14q11-Q22 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:(show all 15)
Graphical network of the top 20 diseases related to Chromosome 14q11-Q22 Deletion Syndrome:![]() |
Human phenotypes related to Chromosome 14q11-Q22 Deletion Syndrome:58 31 (show all 49)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:613457UMLS symptoms related to Chromosome 14q11-Q22 Deletion Syndrome:seizures, muscle spasticity MGI Mouse Phenotypes related to Chromosome 14q11-Q22 Deletion Syndrome:45
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Genetic tests related to Chromosome 14q11-Q22 Deletion Syndrome:
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MalaCards organs/tissues related to Chromosome 14q11-Q22 Deletion Syndrome:40
Eye,
Brain,
Lung,
Thyroid
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Articles related to Chromosome 14q11-Q22 Deletion Syndrome:(show all 12)
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Search
GEO
for disease gene expression data for Chromosome 14q11-Q22 Deletion Syndrome.
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Cellular components related to Chromosome 14q11-Q22 Deletion Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Chromosome 14q11-Q22 Deletion Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Chromosome 14q11-Q22 Deletion Syndrome according to GeneCards Suite gene sharing:
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