MCID: FCL030
MIFTS: 19

Facial Paresis, Hereditary Congenital, 1

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

Aliases & Classifications for Facial Paresis, Hereditary Congenital, 1

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

Name: Facial Paresis, Hereditary Congenital, 1 53 13
Facial Palsy, Congenital, Unilateral or Bilateral 53
Isolated Hereditary Congenital Facial Paralysis 55
Moebius Syndrome 2, Formerly; Mbs2, Formerly 53
Facial Paresis, Hereditary, Congenital Hcfp1 69
Hereditary Congenital Facial Paresis 1 28
Moebius Syndrome 2, Formerly 53
Mobius Syndrome 2, Formerly 53
Mbs2, Formerly 53
Hcfp1 53

Characteristics:

Orphanet epidemiological data:

55
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:

53
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:



External Ids:

OMIM 53 601471
Orphanet 55 ORPHA306527
UMLS via Orphanet 70 C1832284
ICD10 via Orphanet 33 Q87.0
MedGen 39 C1832284
UMLS 69 C1832284

Summaries for Facial Paresis, Hereditary Congenital, 1

OMIM : 53 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)

MalaCards based summary : Facial Paresis, Hereditary Congenital, 1, also known as facial palsy, congenital, unilateral or bilateral, is related to hereditary congenital facial paresis, and has symptoms including abnormality of the eye and facial palsy. An important gene associated with Facial Paresis, Hereditary Congenital, 1 is MBS2 (Moebius Syndrome 2). Affiliated tissues include eye.

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

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Face:
facial palsy, unilateral or bilateral
facial muscle weakness of muscles innervated by cn vii

Neurologic Central Nervous System:
facial palsy, unilateral or bilateral

Head And Neck Eyes:
absent corneal reflex response


Clinical features from OMIM:

601471

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

31
# Description HPO Frequency HPO Source Accession
1 abnormality of the eye 31 HP:0000478
2 facial palsy 31 HP:0010628

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 28

Anatomical Context for Facial Paresis, Hereditary Congenital, 1

MalaCards organs/tissues related to Facial Paresis, Hereditary Congenital, 1:

38
Eye

Publications for Facial Paresis, Hereditary Congenital, 1

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
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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