PFMCCD
MCID: PRT043
MIFTS: 25
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Parietal Foramina with Cleidocranial Dysplasia (PFMCCD)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Parietal Foramina with Cleidocranial Dysplasia:
Characteristics:Orphanet epidemiological data:59
parietal foramina with clavicular hypoplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Bone diseases
ICD10:
34
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UniProtKB/Swiss-Prot
:
74
Parietal foramina with cleidocranial dysplasia: Combines skull defects in the form of enlarged parietal foramina and deficient ossification of the clavicles.
MalaCards based summary : Parietal Foramina with Cleidocranial Dysplasia, also known as cleidocranial dysplasia with parietal foramina, is related to parietal foramina and cleidocranial dysplasia. An important gene associated with Parietal Foramina with Cleidocranial Dysplasia is MSX2 (Msh Homeobox 2). Affiliated tissues include bone, and related phenotypes are macrocephaly and microtia
More information from OMIM:
168550
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Diseases related to Parietal Foramina with Cleidocranial Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Parietal Foramina with Cleidocranial Dysplasia:![]() |
Human phenotypes related to Parietal Foramina with Cleidocranial Dysplasia:32 (show all 7)
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MalaCards organs/tissues related to Parietal Foramina with Cleidocranial Dysplasia:41
Bone
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ClinVar genetic disease variations for Parietal Foramina with Cleidocranial Dysplasia:6
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Search
GEO
for disease gene expression data for Parietal Foramina with Cleidocranial Dysplasia.
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Biological processes related to Parietal Foramina with Cleidocranial Dysplasia according to GeneCards Suite gene sharing:
Molecular functions related to Parietal Foramina with Cleidocranial Dysplasia according to GeneCards Suite gene sharing:
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