HPE12
MCID: HLP031
MIFTS: 21
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Holoprosencephaly 12 with or Without Pancreatic Agenesis (HPE12)
Categories:
Endocrine diseases, Genetic diseases, Neuronal diseases
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MalaCards integrated aliases for Holoprosencephaly 12 with or Without Pancreatic Agenesis:
Characteristics:OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
variable phenotype de novo mutation onset in utero early death may occur HPO:31
holoprosencephaly 12 with or without pancreatic agenesis:
Inheritance autosomal dominant inheritance Onset and clinical course congenital onset Classifications: |
OMIM :
56
Holoprosencephaly-12 with or without pancreatic agenesis (HPE12) is a developmental disorder characterized by abnormal separation of the embryonic forebrain (HPE) resulting in dysmorphic facial features and often, but not always, impaired neurologic development. Most patients with this form of HPE also have congenital absence of the pancreas, resulting in early-onset insulin-dependent diabetes mellitus and requiring pancreatic enzyme replacement. Other features may include hearing loss and absence of the gallbladder (summary by De Franco et al., 2019 and Kruszka et al., 2019).
For a phenotypic description and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100). (618500)
MalaCards based summary : Holoprosencephaly 12 with or Without Pancreatic Agenesis, is also known as hpe12. An important gene associated with Holoprosencephaly 12 with or Without Pancreatic Agenesis is CNOT1 (CCR4-NOT Transcription Complex Subunit 1). Affiliated tissues include pancreas, brain and bone, and related phenotypes are spasticity and diabetes insipidus UniProtKB/Swiss-Prot : 73 Holoprosencephaly 12 with or without pancreatic agenesis: An autosomal dominant form of holoprosencephaly, 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. HPE12 clinical features include abnormal forebrain development, dysmorphic features, global developmental delay, learning difficulties, and congenital absence of the pancreas in most patients, resulting in early-onset insulin-dependent diabetes mellitus. Other features may include hearing loss and absence of the gallbladder. |
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Human phenotypes related to Holoprosencephaly 12 with or Without Pancreatic Agenesis:31 (show all 18)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:618500 |
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MalaCards organs/tissues related to Holoprosencephaly 12 with or Without Pancreatic Agenesis:40
Pancreas,
Brain,
Bone
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Articles related to Holoprosencephaly 12 with or Without Pancreatic Agenesis:
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ClinVar genetic disease variations for Holoprosencephaly 12 with or Without Pancreatic Agenesis:6
UniProtKB/Swiss-Prot genetic disease variations for Holoprosencephaly 12 with or Without Pancreatic Agenesis:73
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Search
GEO
for disease gene expression data for Holoprosencephaly 12 with or Without Pancreatic Agenesis.
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