Holoprosencephaly 12 with or Without Pancreatic Agenesis (HPE12)

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OMIM 56 618500 OMIM Phenotypic Series 56 PS236100 MeSH 43 D016142

MedGen 41 C5193131 CN261026 SNOMED-CT via HPO 68 128613002 15771004 199612005 22033007 221360009 224958001 246545002 263681008 271611007 27272007 313307000 35045004 397790002 44057004 44593008 46635009 60700002 84757009 91175000 95515009 more

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.

Clinical features from OMIM:

618500

Search Clinical Trials , NIH Clinical Center for Holoprosencephaly 12 with or Without Pancreatic Agenesis

Search GEO for disease gene expression data for Holoprosencephaly 12 with or Without Pancreatic Agenesis.