MCID: HRD043
MIFTS: 16

Hereditary Congenital Facial Paresis

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

Aliases & Classifications for Hereditary Congenital Facial Paresis

MalaCards integrated aliases for Hereditary Congenital Facial Paresis:

Name: Hereditary Congenital Facial Paresis 49 28
Facial Paresis, Hereditary, Congenital Hcfp1 69
Facial Paresis, Hereditary, Congenital 69
Facial Paresis Hereditary Congenital 49
Hcfp1 49

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, 1 and facial paresis, hereditary congenital, 3. 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, 1 11.7
2 facial paresis, hereditary congenital, 3 11.2
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 28

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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