MCID: FCL030
MIFTS: 19

Facial Paresis, Hereditary Congenital, 1

Categories: Neuronal diseases, Fetal diseases, Rare diseases, Genetic 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 59
Moebius Syndrome 2, Formerly; Mbs2, Formerly 57
Facial Paresis, Hereditary, Congenital Hcfp1 73
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:

59
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
Inheritance:
autosomal dominant

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


HPO:

32
facial paresis, hereditary congenital, 1:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course nonprogressive


Classifications:



External Ids:

OMIM 57 601471
Orphanet 59 ORPHA306527
ICD10 via Orphanet 34 Q87.0
UMLS via Orphanet 74 C1832284
MedGen 42 C1832284
UMLS 73 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)

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). Affiliated tissues include eye, and related phenotypes are abnormality of the eye and facial palsy

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:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of the eye 32 HP:0000478
2 facial palsy 32 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 29

Anatomical Context for Facial Paresis, Hereditary Congenital, 1

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

41
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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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