MCID: HRD043
MIFTS: 16

Hereditary Congenital Facial Paresis

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

Aliases & Classifications for Hereditary Congenital Facial Paresis

MalaCards integrated aliases for Hereditary Congenital Facial Paresis:

Name: Hereditary Congenital Facial Paresis 53 29
Facial Paresis, Hereditary, Congenital Hcfp1 73
Facial Paresis, Hereditary, Congenital 73
Facial Paresis Hereditary Congenital 53
Hcfp1 53

Classifications:



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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, 3 and facial paresis, hereditary congenital, 1. An important gene associated with Hereditary Congenital Facial Paresis is MBS2 (Moebius Syndrome 2).

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, 3 11.8
2 facial paresis, hereditary congenital, 1 11.7
3 moebius syndrome 11.1

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 29

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 )
2016
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

GO Terms for Hereditary Congenital Facial Paresis

Sources for Hereditary Congenital Facial Paresis

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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