HCFP1
MCID: HRD043
MIFTS: 18

Hereditary Congenital Facial Paresis (HCFP1)

Categories: Ear diseases, 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 20 36 29
Facial Paresis, Hereditary, Congenital Hcfp1 70
Facial Paresis, Hereditary, Congenital 70
Facial Paresis Hereditary Congenital 20
Hcfp1 20

Classifications:



External Ids:

KEGG 36 H02151
UMLS 70 C1832284 C1858717

Summaries for Hereditary Congenital Facial Paresis

KEGG : 36 Hereditary congenital facial paresis (HCFP) belongs to the congenital cranial dysinnervation disorders. HCFP is characterized by the dysfunction of the seventh cranial nerve and can be associated with hearing loss, strabismus, and orofacial anomalies. Genetic heterogeneity for this disorder has been suggested. The only known causative gene for HCFP is HOXB1.

MalaCards based summary : Hereditary Congenital Facial Paresis, also known as facial paresis, hereditary, congenital hcfp1, is related to moebius syndrome and facial paresis, hereditary congenital, 3. An important gene associated with Hereditary Congenital Facial Paresis is MBS2 (Moebius Syndrome 2), and among its related pathways/superpathways is Signaling pathways regulating pluripotency of stem cells. Affiliated tissues include bone.

Related Diseases for Hereditary Congenital Facial Paresis

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 29

Anatomical Context for Hereditary Congenital Facial Paresis

MalaCards organs/tissues related to Hereditary Congenital Facial Paresis:

40
Bone

Publications for Hereditary Congenital Facial Paresis

Articles related to Hereditary Congenital Facial Paresis:

# Title Authors PMID Year
1
Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies. 61
33389762 2021
2
Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis. 61
30287925 2019
3
A novel homozygous HOXB1 mutation in a Turkish family with hereditary congenital facial paresis. 61
27640920 2017
4
Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis. 61
27144914 2016
5
The congenital cranial dysinnervation disorders. 61
25633065 2015
6
In silico identification of new candidate genes for hereditary congenital facial paresis. 61
21345367 2011
7
A family with hereditary congenital facial paresis and a brief review of the literature. 61
20577083 2010
8
Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes. 61
16912702 2006
9
Nucleotide variation analysis does not support a causal role for plexin-A1 in hereditary congenital facial paresis. 61
15996756 2005
10
Identifying new candidate genes for hereditary facial paresis on chromosome 3q21-q22 by RNA in situ hybridization in mouse. 61
15953540 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:

36
# 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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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