Holoprosencephaly (HPE)

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Disease Ontology 12 DOID:4621 KEGG 36 H00267 MeSH 43 D016142 NCIt 49 C74988 SNOMED-CT 67 30915001 ICD10 32 Q04.2

MESH via Orphanet 44 D016142 ICD10 via Orphanet 33 Q04.2 UMLS via Orphanet 72 C0079541 C3711749 Orphanet 58 ORPHA2162 SNOMED-CT via HPO 68 102594003 111266001 11934000 126962006 128613002 14447001 14760008 15771004 16331000 17190001 18735004 194021007 204099004 204108000 204508009 204519007 204878001 205798005 22006008 221360009 224958001 225595004 230745008 235595009 237630007 246545002 246799009 246923005 248200007 253098009 253101008 253207002 253549006 26544005 271327008 271611007 271700006 275480001 29555009 29738008 302866003 30288003 304068004 313307000 32003007 32390006 34911001 386806002 39302008 397790002 398151007 398152000 398206004 398302004 398309008 409623005 43476002 44169009 44593008 44808001 448643005 48777005 55999004 61142002 64217002 69056000 698065002 698247007 707609006 708670007 7183006 73211009 76976005 80093006 81793007 83156004 84757009 86299006 89627008 90145001 91175000 93278002 95427009 more UMLS 71 C0079541

NINDS : ⁵³ Holoprosencephaly is a disorder caused by the failure of the prosencephalon (the embryonic forebrain) to sufficiently divide into the double lobes of the cerebral hemispheres. The result is a single-lobed brain structure and severe skull and facial defects. In most cases of holoprosencephaly, the malformations are so severe that babies die before birth. In less severe cases, babies are born with normal or near-normal brain development and facial deformities that may affect the eyes, nose, and upper lip. There are three classifications of holoprosencephaly. Alobar, in which the brain has not divided at all, is usually associated with severe facial deformities. Semilobar, in which the brain's hemispheres have somewhat divided, causes an intermediate form of the disorder. Lobar, in which there is considerable evidence of separate brain hemispheres, is the least severe form. In some cases of lobar holoprosencephaly the baby's brain may be nearly normal. The least severe of the facial anomalies is the median cleft lip (premaxillary agenesis). The most severe is cyclopia, an abnormality characterized by a single eye located in the area normally occupied by the root of the nose, and a missing nose or a proboscis (a tubular-shaped nose) located above the eye. The least common facial anomaly is ethmocephaly, in which a proboscis separates closely-set eyes. Cebocephaly, another facial anomaly, is characterized by a small, flattened nose with a single nostril situated below incomplete or underdeveloped closely-set eyes.

MalaCards based summary : Holoprosencephaly, also known as holoprosencephaly sequence, is related to holoprosencephaly 9 and holoprosencephaly 1. An important gene associated with Holoprosencephaly is FGFR1 (Fibroblast Growth Factor Receptor 1), and among its related pathways/superpathways are Hedgehog signaling pathway and Pathways in cancer. Affiliated tissues include Primitive Streak, brain and eye, and related phenotypes are abnormal facial shape and holoprosencephaly

Disease Ontology : ¹² A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies.

NIH Rare Diseases : ⁵² Holoprosencephaly is an abnormality of brain development in which the brain doesn't properly divide into the right and left hemispheres. The condition can also affect development of the head and face. There are 4 types of holoprosencephaly, distinguished by severity. From most to least severe, the 4 types are alobar, semi-lobar, lobar, and middle interhemispheric variant (MIHV). In general, the severity of any facial defects corresponds to the severity of the brain defect. The most severely affected people have one central eye (cyclopia) and a tubular nasal structure (proboscis) located above the eye. In the less severe forms, the brain is only partially divided, and the eyes usually are set close together. Other signs and symptoms often include intellectual disability and pituitary gland problems . Holoprosencephaly can be caused by mutations in any of at least 14 different genes ; chromosome abnormalities; or agents that can cause birth defects (teratogens ). It may also be a feature of several unique genetic syndromes . In many cases, the exact cause is unknown. Life expectancy for people with this condition varies, and treatment depends on the symptoms and severity in each person.

KEGG : ³⁶ Holoprosencephaly (HPE) is characterized by incomplete separation of forebrain and facial components into left and right sides.

Wikipedia : ⁷⁴ Holoprosencephaly (HPE) is a cephalic disorder in which the prosencephalon (the forebrain of the embryo)... more...

GeneReviews: NBK1530

Search NIH Clinical Center for Holoprosencephaly

Search GEO for disease gene expression data for Holoprosencephaly.