HPE3
MCID: HLP026
MIFTS: 48
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Holoprosencephaly 3 (HPE3)
Categories:
Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Holoprosencephaly 3:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
variable features may be present severe alobar form may result in death in infancy mild form may include microcephaly, hypotelorism, and single maxillary central incisor HPO:31
holoprosencephaly 3:
Inheritance autosomal dominant inheritance Onset and clinical course incomplete penetrance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Endocrine diseases Eye diseases |
UniProtKB/Swiss-Prot :
73
Holoprosencephaly 3: A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. The majority of holoprosencephaly type 3 cases are apparently sporadic, although clear examples of autosomal dominant inheritance have been described.
MalaCards based summary : Holoprosencephaly 3, also known as hpe3, is related to holoprosencephaly and radial hemimelia. An important gene associated with Holoprosencephaly 3 is SHH (Sonic Hedgehog Signaling Molecule), and among its related pathways/superpathways are cAMP signaling pathway and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. Affiliated tissues include brain and eye, and related phenotypes are intellectual disability and global developmental delay Disease Ontology : 12 A holoprosencephaly that has material basis in heterozygous mutation in the SHH gene on chromosome 7q36. |
Human phenotypes related to Holoprosencephaly 3:31 (show all 19)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:142945 (Updated 05-Mar-2021)MGI Mouse Phenotypes related to Holoprosencephaly 3:46
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MalaCards organs/tissues related to Holoprosencephaly 3:40
Brain,
Eye
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Articles related to Holoprosencephaly 3:(show all 46)
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ClinVar genetic disease variations for Holoprosencephaly 3:6 (show top 50) (show all 61)
UniProtKB/Swiss-Prot genetic disease variations for Holoprosencephaly 3:73 (show top 50) (show all 79)
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Search
GEO
for disease gene expression data for Holoprosencephaly 3.
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Pathways related to Holoprosencephaly 3 according to GeneCards Suite gene sharing:
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Biological processes related to Holoprosencephaly 3 according to GeneCards Suite gene sharing:(show all 26)
Molecular functions related to Holoprosencephaly 3 according to GeneCards Suite gene sharing:
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