Holoprosencephaly 12 with or Without Pancreatic Agenesis (HPE12)

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OMIM® 57 618500 OMIM Phenotypic Series 57 PS236100 MeSH 44 D016142

Orphanet 58 ORPHA556955 MedGen 41 C5193131 CN261026 SNOMED-CT via HPO 68 128613002 15771004 199612005 22033007 221360009 224958001 246545002 253138008 253255002 263681008 267258002 271611007 27272007 276610007 313307000 35045004 389087006 397790002 44057004 44593008 46635009 5102002 60700002 707609006 84757009 86507001 91175000 95515009 more

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 type 1 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) (Updated 20-May-2021)

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, bone and brain, and related phenotypes are agenesis of corpus callosum and intrauterine growth retardation

UniProtKB/Swiss-Prot : ⁷² 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 (Updated 20-May-2021)

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.