OFD14
MCID: ORF036
MIFTS: 30
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Orofaciodigital Syndrome Xiv (OFD14)
Categories:
Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases, Skin diseases, Smell/Taste diseases
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MalaCards integrated aliases for Orofaciodigital Syndrome Xiv:
Characteristics:Orphanet epidemiological data:58
orofaciodigital syndrome type 14
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile; HPO:31
orofaciodigital syndrome xiv:
Inheritance autosomal recessive inheritance Onset and clinical course congenital onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Bone diseases Eye diseases Nephrological diseases Ear diseases Respiratory diseases Skin diseases Oral diseases Smell/Taste diseases
ICD10:
33
Orphanet: 58
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GARD :
20
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 434179DefinitionOrofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.Visit the Orphanet disease page for more resources.
MalaCards based summary : Orofaciodigital Syndrome Xiv, is also known as ofd14. An important gene associated with Orofaciodigital Syndrome Xiv is C2CD3 (C2 Domain Containing 3 Centriole Elongation Regulator). Affiliated tissues include tongue, brain and liver, and related phenotypes are intellectual disability and sleep apnea UniProtKB/Swiss-Prot : 73 Orofaciodigital syndrome 14: A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD14 patients show severe microcephaly, cerebral malformations the molar tooth sign, and intellectual disability in addition to canonical OFDS features. |
Human phenotypes related to Orofaciodigital Syndrome Xiv:58 31 (show top 50) (show all 65)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:615948 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Orofaciodigital Syndrome Xiv:40
Tongue,
Brain,
Liver,
Lung
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Articles related to Orofaciodigital Syndrome Xiv:
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ClinVar genetic disease variations for Orofaciodigital Syndrome Xiv:6 (show all 13)
UniProtKB/Swiss-Prot genetic disease variations for Orofaciodigital Syndrome Xiv:73
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Search
GEO
for disease gene expression data for Orofaciodigital Syndrome Xiv.
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