HPE6
MCID: HLP021
MIFTS: 20

Holoprosencephaly 6 (HPE6)

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

Aliases & Classifications for Holoprosencephaly 6

MalaCards integrated aliases for Holoprosencephaly 6:

Name: Holoprosencephaly 6 57 12 29 15 70
Hpe6 57 12
Holoprosencephaly-6 13

Classifications:



External Ids:

Disease Ontology 12 DOID:0110874
OMIM® 57 605934
OMIM Phenotypic Series 57 PS236100
MedGen 41 C1853830
UMLS 70 C1853830

Summaries for Holoprosencephaly 6

Disease Ontology : 12 A holoprosencephaly that has material basis in variation in the chromosome region 2q37.1-q37.3.

MalaCards based summary : Holoprosencephaly 6, also known as hpe6, is related to holoprosencephaly and exencephaly. An important gene associated with Holoprosencephaly 6 is HPE6 (Holoprosencephaly 6), and among its related pathways/superpathways is Transcription_Role of VDR in regulation of genes involved in osteoporosis. Affiliated tissues include brain and fetal brain.

More information from OMIM: 605934 PS236100

Related Diseases for Holoprosencephaly 6

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 6 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 holoprosencephaly 11.1
2 exencephaly 10.9
3 intrahepatic cholestasis of pregnancy 9.5 MMP2 CYP3A4

Symptoms & Phenotypes for Holoprosencephaly 6

Clinical features from OMIM®:

605934 (Updated 05-Apr-2021)

Drugs & Therapeutics for Holoprosencephaly 6

Search Clinical Trials , NIH Clinical Center for Holoprosencephaly 6

Genetic Tests for Holoprosencephaly 6

Genetic tests related to Holoprosencephaly 6:

# Genetic test Affiliating Genes
1 Holoprosencephaly 6 29

Anatomical Context for Holoprosencephaly 6

MalaCards organs/tissues related to Holoprosencephaly 6:

40
Brain, Fetal Brain

Publications for Holoprosencephaly 6

Articles related to Holoprosencephaly 6:

# Title Authors PMID Year
1
Holoprosencephaly associated with an apparent isolated 2q37.1-->2q37.3 deletion. 57
11343300 2001
2
Fetal brain MRI findings and neonatal outcome of common diagnosis at a tertiary care center. 61
31213636 2019

Variations for Holoprosencephaly 6

Expression for Holoprosencephaly 6

Search GEO for disease gene expression data for Holoprosencephaly 6.

Pathways for Holoprosencephaly 6

Pathways related to Holoprosencephaly 6 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.28 CYP3A4 CALCR

GO Terms for Holoprosencephaly 6

Biological processes related to Holoprosencephaly 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to amyloid-beta GO:1904645 8.62 MMP2 CALCR

Sources for Holoprosencephaly 6

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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