HPE8
MCID: HLP022
MIFTS: 23

Holoprosencephaly 8 (HPE8)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Holoprosencephaly 8

MalaCards integrated aliases for Holoprosencephaly 8:

Name: Holoprosencephaly 8 57 12 29 13 15 70
Hpe8 57 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110879
OMIM® 57 609408
OMIM Phenotypic Series 57 PS236100
MedGen 41 C1836254
UMLS 70 C1836254

Summaries for Holoprosencephaly 8

Disease Ontology : 12 A holoprosencephaly that has material basis in variation in the chromosome region 14q13.

MalaCards based summary : Holoprosencephaly 8, also known as hpe8, is related to holoprosencephaly and holoprosencephaly 2. An important gene associated with Holoprosencephaly 8 is HPE8 (Holoprosencephaly 8), and among its related pathways/superpathways is Hedgehog signaling pathway (KEGG). Affiliated tissues include eye.

More information from OMIM: 609408 PS236100

Related Diseases for Holoprosencephaly 8

Diseases in the Holoprosencephaly family:

Holoprosencephaly 3 Holoprosencephaly 4
Holoprosencephaly 2 Holoprosencephaly 1
Holoprosencephaly 6 Holoprosencephaly 8
Holoprosencephaly 5 Holoprosencephaly 7
Holoprosencephaly 9 Holoprosencephaly 11
Nonsyndromic Holoprosencephaly

Diseases related to Holoprosencephaly 8 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 holoprosencephaly 29.7 ZIC2 PPP2R3C NPAS3 HPE8 EAPP DISP1
2 holoprosencephaly 2 10.0 ZIC2 DISP1
3 holoprosencephaly 3 9.9 ZIC2 DISP1
4 coloboma of macula 9.9
5 alacrima, achalasia, and mental retardation syndrome 9.9
6 microphthalmia 9.9
7 patau syndrome 9.9 ZIC2 DISP1
8 orofaciodigital syndrome viii 9.9 ZIC2 DISP1
9 holoprosencephaly 1 9.8 ZIC2 CDON
10 culler-jones syndrome 9.7 ZIC2 CDON
11 midline interhemispheric variant of holoprosencephaly 9.6 ZIC2 DISP1 CDON
12 septopreoptic holoprosencephaly 9.6 ZIC2 DISP1 CDON
13 holoprosencephaly 9 9.6 ZIC2 DISP1 CDON
14 holoprosencephaly 4 9.6 ZIC2 DISP1 CDON
15 alobar holoprosencephaly 9.6 ZIC2 DISP1 CDON
16 lobar holoprosencephaly 9.6 ZIC2 DISP1 CDON
17 holoprosencephaly 11 9.6 ZIC2 DISP1 CDON
18 pallister-hall syndrome 9.6 ZIC2 CDON
19 holoprosencephaly 5 9.6 ZIC2 DISP1 CDON
20 microform holoprosencephaly 9.6 ZIC2 DISP1 CDON
21 holoprosencephaly 7 9.6 ZIC2 DISP1 CDON
22 solitary median maxillary central incisor 9.6 ZIC2 DISP1 CDON
23 semilobar holoprosencephaly 9.5 ZIC2 DISP1 CDON
24 congenital nervous system abnormality 9.5 ZIC2 CDON

Graphical network of the top 20 diseases related to Holoprosencephaly 8:



Diseases related to Holoprosencephaly 8

Symptoms & Phenotypes for Holoprosencephaly 8

Clinical features from OMIM®:

609408 (Updated 20-May-2021)

Drugs & Therapeutics for Holoprosencephaly 8

Search Clinical Trials , NIH Clinical Center for Holoprosencephaly 8

Genetic Tests for Holoprosencephaly 8

Genetic tests related to Holoprosencephaly 8:

# Genetic test Affiliating Genes
1 Holoprosencephaly 8 29

Anatomical Context for Holoprosencephaly 8

MalaCards organs/tissues related to Holoprosencephaly 8:

40
Eye

Publications for Holoprosencephaly 8

Articles related to Holoprosencephaly 8:

# Title Authors PMID Year
1
Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential candidate genes. 57 61
15820313 2005
2
14q13 distal microdeletion encompassing NKX2-1 and PAX9: Patient report and refinement of the associated phenotype. 61
27148860 2016
3
14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly. 61
22581785 2012
4
Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE. 61
20066439 2010
5
Cranio-facial skeletal development in three human synophthalmic holoprosencephalic fetuses. 61
9488905 1998
6
Anatomy of the circle of Willis in three cases of human fetal synophthalmic holoprosencephaly. 61
9010572 1996
7
An algorithm for prenatal ultrasound diagnosis of congenital CNS abnormalities. 61
3886921 1985

Variations for Holoprosencephaly 8

Expression for Holoprosencephaly 8

Search GEO for disease gene expression data for Holoprosencephaly 8.

Pathways for Holoprosencephaly 8

Pathways related to Holoprosencephaly 8 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.37 DISP1 CDON

GO Terms for Holoprosencephaly 8

Sources for Holoprosencephaly 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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