HCFP1
MCID: FCL030
MIFTS: 19

Facial Paresis, Hereditary Congenital, 1 (HCFP1)

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

Aliases & Classifications for Facial Paresis, Hereditary Congenital, 1

MalaCards integrated aliases for Facial Paresis, Hereditary Congenital, 1:

Name: Facial Paresis, Hereditary Congenital, 1 57 13
Facial Palsy, Congenital, Unilateral or Bilateral 57
Isolated Hereditary Congenital Facial Paralysis 58
Moebius Syndrome 2, Formerly; Mbs2, Formerly 57
Facial Paresis, Hereditary, Congenital Hcfp1 70
Hereditary Congenital Facial Paresis 1 29
Moebius Syndrome 2, Formerly 57
Mobius Syndrome 2, Formerly 57
Mbs2, Formerly 57
Hcfp1 57

Characteristics:

Orphanet epidemiological data:

58
isolated hereditary congenital facial paralysis
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
nonprogressive disorder
occurs in the absence of trauma
genetic heterogeneity (see hcfp2, )


HPO:

31
facial paresis, hereditary congenital, 1:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course nonprogressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 601471
OMIM Phenotypic Series 57 PS601471
ICD10 via Orphanet 33 Q87.0
UMLS via Orphanet 71 C1832284
Orphanet 58 ORPHA306527
MedGen 41 C1832284
UMLS 70 C1832284

Summaries for Facial Paresis, Hereditary Congenital, 1

OMIM® : 57 Hereditary congenital facial paresis (HCFP) is the isolated dysfunction of the facial nerve (CN VII). HCFP is considered to be distinct from Moebius syndrome (157900), which shares some of the same clinical features. (601471) (Updated 05-Apr-2021)

MalaCards based summary : Facial Paresis, Hereditary Congenital, 1, also known as facial palsy, congenital, unilateral or bilateral, is related to hereditary congenital facial paresis. An important gene associated with Facial Paresis, Hereditary Congenital, 1 is MBS2 (Moebius Syndrome 2). Related phenotypes are facial palsy and decreased corneal reflex

Related Diseases for Facial Paresis, Hereditary Congenital, 1

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 Facial Paresis, Hereditary Congenital, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hereditary congenital facial paresis 11.1

Symptoms & Phenotypes for Facial Paresis, Hereditary Congenital, 1

Human phenotypes related to Facial Paresis, Hereditary Congenital, 1:

31
# Description HPO Frequency HPO Source Accession
1 facial palsy 31 HP:0010628
2 decreased corneal reflex 31 HP:0008000
3 weakness of orbicularis oculi muscle 31 HP:0012507

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Face:
facial palsy, unilateral or bilateral
facial muscle weakness of muscles innervated by cn vii

Head And Neck Eyes:
absent corneal reflex response

Neurologic Central Nervous System:
facial palsy, unilateral or bilateral

Clinical features from OMIM®:

601471 (Updated 05-Apr-2021)

Drugs & Therapeutics for Facial Paresis, Hereditary Congenital, 1

Search Clinical Trials , NIH Clinical Center for Facial Paresis, Hereditary Congenital, 1

Genetic Tests for Facial Paresis, Hereditary Congenital, 1

Genetic tests related to Facial Paresis, Hereditary Congenital, 1:

# Genetic test Affiliating Genes
1 Hereditary Congenital Facial Paresis 1 29

Anatomical Context for Facial Paresis, Hereditary Congenital, 1

Publications for Facial Paresis, Hereditary Congenital, 1

Articles related to Facial Paresis, Hereditary Congenital, 1:

# Title Authors PMID Year
1
Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes. 57 61
16912702 2006
2
Identifying new candidate genes for hereditary facial paresis on chromosome 3q21-q22 by RNA in situ hybridization in mouse. 57
15953540 2005
3
The neuropathology of hereditary congenital facial palsy vs Möbius syndrome. 57
15728286 2005
4
Localization of a gene for Möbius syndrome to chromosome 3q by linkage analysis in a Dutch family. 57
8872479 1996
5
Congenital bilateral facial paralysis. 57
5094540 1971
6
Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis. 61
27144914 2016
7
In silico identification of new candidate genes for hereditary congenital facial paresis. 61
21345367 2011

Variations for Facial Paresis, Hereditary Congenital, 1

Expression for Facial Paresis, Hereditary Congenital, 1

Search GEO for disease gene expression data for Facial Paresis, Hereditary Congenital, 1.

Pathways for Facial Paresis, Hereditary Congenital, 1

GO Terms for Facial Paresis, Hereditary Congenital, 1

Sources for Facial Paresis, Hereditary Congenital, 1

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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