HPE9
MCID: HLP025
MIFTS: 25
|
Holoprosencephaly 9 (HPE9)
Categories:
Endocrine diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
|
|
MalaCards integrated aliases for Holoprosencephaly 9:
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
variable phenotype variable expressivity incomplete penetrance HPO:32
holoprosencephaly 9:
Onset and clinical course variable expressivity incomplete penetrance Inheritance autosomal dominant inheritance sporadic Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Endocrine diseases |
OMIM
:
57
Holoprosencephaly-9 refers to a disorder characterized by a wide phenotypic spectrum of brain developmental defects, with or without overt forebrain cleavage abnormalities. It usually includes midline craniofacial anomalies involving the first branchial arch and/or orbits, pituitary hypoplasia with panhypopituitarism, and postaxial polydactyly. The disorder shows incomplete penetrance and variable expressivity (summary by Roessler et al., 2003 and Bertolacini et al., 2012).
For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100). (610829)
MalaCards based summary : Holoprosencephaly 9, also known as pituitary anomalies with holoprosencephaly-like features, is related to culler-jones syndrome, and has symptoms including seizures An important gene associated with Holoprosencephaly 9 is GLI2 (GLI Family Zinc Finger 2). Affiliated tissues include pituitary and brain, and related phenotypes are malar flattening and hydrocephalus Disease Ontology : 12 A holoprosencephaly that has material basis in heterozygous mutation in the GLI2 gene on chromosome 2q14. UniProtKB/Swiss-Prot : 75 Holoprosencephaly 9: 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. Holoprosencephaly type 9 is characterized by defective anterior pituitary formation and pan-hypopituitarism, with or without overt forebrain cleavage abnormalities, and holoprosencephaly-like midfacial hypoplasia. |
Diseases in the Holoprosencephaly family:Diseases related to Holoprosencephaly 9 via text searches within MalaCards or GeneCards Suite gene sharing:
|
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:610829Human phenotypes related to Holoprosencephaly 9:32 (show all 34)
UMLS symptoms related to Holoprosencephaly 9:seizures |
|
MalaCards organs/tissues related to Holoprosencephaly 9:41
Pituitary,
Brain
|
ClinVar genetic disease variations for Holoprosencephaly 9:6 (show top 50) (show all 53)
|
Search
GEO
for disease gene expression data for Holoprosencephaly 9.
|
|
|