HPE8
MCID: HLP022
MIFTS: 21

Holoprosencephaly 8 (HPE8)

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

Aliases & Classifications for Holoprosencephaly 8

MalaCards integrated aliases for Holoprosencephaly 8:

Name: Holoprosencephaly 8 58 12 30 13 15 74
Hpe8 58 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110879
OMIM 58 609408
MedGen 43 C1836254
UMLS 74 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 alacrima, achalasia, and mental retardation syndrome. An important gene associated with Holoprosencephaly 8 is HPE8 (Holoprosencephaly 8). Related phenotype is respiratory system.

Description from OMIM: 609408

Related Diseases for Holoprosencephaly 8

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

MGI Mouse Phenotypes related to Holoprosencephaly 8:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 8.92 DISP1 NPAS3 PAX9 TGIF1

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 30

Anatomical Context for Holoprosencephaly 8

Publications for Holoprosencephaly 8

Articles related to Holoprosencephaly 8:

# Title Authors Year
1
14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly. ( 22581785 )
2012

Variations for Holoprosencephaly 8

Expression for Holoprosencephaly 8

Search GEO for disease gene expression data for Holoprosencephaly 8.

Pathways for Holoprosencephaly 8

GO Terms for Holoprosencephaly 8

Biological processes related to Holoprosencephaly 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.26 NPAS3 PAX9 RALGAPA1 TGIF1
2 cellular response to growth factor stimulus GO:0071363 8.62 PAX9 TGIF1

Sources for Holoprosencephaly 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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