MCID: HRD043
MIFTS: 17

Hereditary Congenital Facial Paresis

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

Aliases & Classifications for Hereditary Congenital Facial Paresis

MalaCards integrated aliases for Hereditary Congenital Facial Paresis:

Name: Hereditary Congenital Facial Paresis 54 38 30
Facial Paresis, Hereditary, Congenital Hcfp1 74
Facial Paresis, Hereditary, Congenital 74
Facial Paresis Hereditary Congenital 54
Hcfp1 54

Classifications:



External Ids:

KEGG 38 H02151

Summaries for Hereditary Congenital Facial Paresis

MalaCards based summary : Hereditary Congenital Facial Paresis, also known as facial paresis, hereditary, congenital hcfp1, is related to facial paresis, hereditary congenital, 2 and facial paresis, hereditary congenital, 3. An important gene associated with Hereditary Congenital Facial Paresis is HOXB1 (Homeobox B1), and among its related pathways/superpathways is Signaling pathways regulating pluripotency of stem cells.

Related Diseases for Hereditary Congenital Facial Paresis

Diseases in the Hereditary Congenital Facial Paresis family:

Facial Paresis, Hereditary Congenital, 1 Facial Paresis, Hereditary Congenital, 2
Facial Paresis, Hereditary Congenital, 3

Diseases related to Hereditary Congenital Facial Paresis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 facial paresis, hereditary congenital, 2 12.4
2 facial paresis, hereditary congenital, 3 12.2
3 facial paresis, hereditary congenital, 1 11.9
4 moebius syndrome 11.3
5 perrault syndrome 1 9.4 MBS2 MBS3

Graphical network of the top 20 diseases related to Hereditary Congenital Facial Paresis:



Diseases related to Hereditary Congenital Facial Paresis

Symptoms & Phenotypes for Hereditary Congenital Facial Paresis

Drugs & Therapeutics for Hereditary Congenital Facial Paresis

Search Clinical Trials , NIH Clinical Center for Hereditary Congenital Facial Paresis

Genetic Tests for Hereditary Congenital Facial Paresis

Genetic tests related to Hereditary Congenital Facial Paresis:

# Genetic test Affiliating Genes
1 Hereditary Congenital Facial Paresis 30

Anatomical Context for Hereditary Congenital Facial Paresis

Publications for Hereditary Congenital Facial Paresis

Articles related to Hereditary Congenital Facial Paresis:

# Title Authors Year
1
A novel homozygous HOXB1 mutation in a Turkish family with hereditary congenital facial paresis. ( 27640920 )
2017
2
Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis. ( 27144914 )
2016
3
In silico identification of new candidate genes for hereditary congenital facial paresis. ( 21345367 )
2011
4
A family with hereditary congenital facial paresis and a brief review of the literature. ( 20577083 )
2010
5
Nucleotide variation analysis does not support a causal role for plexin-A1 in hereditary congenital facial paresis. ( 15996756 )
2005

Variations for Hereditary Congenital Facial Paresis

Expression for Hereditary Congenital Facial Paresis

Search GEO for disease gene expression data for Hereditary Congenital Facial Paresis.

Pathways for Hereditary Congenital Facial Paresis

Pathways related to Hereditary Congenital Facial Paresis according to KEGG:

38
# Name Kegg Source Accession
1 Signaling pathways regulating pluripotency of stem cells hsa04550

GO Terms for Hereditary Congenital Facial Paresis

Sources for Hereditary Congenital Facial Paresis

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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