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HPE12
MCID: HLP031
MIFTS: 16
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Holoprosencephaly 12 with or Without Pancreatic Agenesis (HPE12)
Categories:
Endocrine diseases, Genetic diseases
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MalaCards integrated aliases for Holoprosencephaly 12 with or Without Pancreatic Agenesis:
Name: Holoprosencephaly 12 with or Without Pancreatic Agenesis
57
6
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
variable phenotype de novo mutation onset in utero early death may occur Classifications: |
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OMIM
:
57
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 holoprosencephaly 12, with or without pancreatic agenesis. An important gene associated with Holoprosencephaly 12 with or Without Pancreatic Agenesis is CNOT1 (CCR4-NOT Transcription Complex Subunit 1). Affiliated tissues include pancreas and bone. |
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:618500 |
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MalaCards organs/tissues related to Holoprosencephaly 12 with or Without Pancreatic Agenesis:41
Pancreas,
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
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Search
GEO
for disease gene expression data for Holoprosencephaly 12 with or Without Pancreatic Agenesis.
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