MCID: HLP022
MIFTS: 21

Holoprosencephaly 8

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

Aliases & Classifications for Holoprosencephaly 8

MalaCards integrated aliases for Holoprosencephaly 8:

Name: Holoprosencephaly 8 57 12 29 15 73
Hpe8 57 12
Holoprosencephaly-8 13

Classifications:



External Ids:

OMIM 57 609408
Disease Ontology 12 DOID:0110879
MedGen 42 C1836254
UMLS 73 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:

46
# 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 29

Anatomical Context for Holoprosencephaly 8

Publications for Holoprosencephaly 8

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 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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