MCID: HRD043
MIFTS: 16

Hereditary Congenital Facial Paresis

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

Aliases & Classifications for Hereditary Congenital Facial Paresis

MalaCards integrated aliases for Hereditary Congenital Facial Paresis:

Name: Hereditary Congenital Facial Paresis 50 24 29
Hcfp1 50 24
Congenital Facial Palsy, Unilateral or Bilateral 24
Facial Paresis, Hereditary, Congenital Hcfp1 69
Facial Paresis, Hereditary, Congenital 69
Facial Paresis Hereditary Congenital 50

Classifications:



Summaries for Hereditary Congenital Facial Paresis

MalaCards based summary : Hereditary Congenital Facial Paresis, also known as 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 HOXB1 (Homeobox B1).

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:

id Related Disease Score Top Affiliating Genes
1 facial paresis, hereditary congenital, 1 11.6
2 facial paresis, hereditary congenital, 3 11.2
3 moebius syndrome 11.0
4 hereditary koilonychia 8.4 HOXB1 MBS2 MBS3 PLXNA1

Symptoms & Phenotypes for Hereditary Congenital Facial Paresis

Drugs & Therapeutics for Hereditary Congenital Facial Paresis

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies Recruiting NCT03059420

Search NIH Clinical Center for Hereditary Congenital Facial Paresis

Genetic Tests for Hereditary Congenital Facial Paresis

Genetic tests related to Hereditary Congenital Facial Paresis:

id Genetic test Affiliating Genes
1 Hereditary Congenital Facial Paresis 29 24

Anatomical Context for Hereditary Congenital Facial Paresis

Publications for Hereditary Congenital Facial Paresis

Articles related to Hereditary Congenital Facial Paresis:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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