MCID: FCL030
MIFTS: 16

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 54 13
Isolated Hereditary Congenital Facial Paralysis 56
Hereditary Congenital Facial Paresis 1 29

Characteristics:

Orphanet epidemiological data:

56
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:

54
Miscellaneous:
genetic heterogeneity (see hcfp2, )
occurs in the absence of trauma
nonprogressive disorder

Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

OMIM 54 601471
Orphanet 56 ORPHA306527
UMLS via Orphanet 70 C1832284
ICD10 via Orphanet 34 Q87.0

Summaries for Facial Paresis, Hereditary Congenital, 1

OMIM : 54
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, is also known as isolated hereditary congenital facial paralysis, and has symptoms including facial palsy and abnormality of the eye. 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

Symptoms & Phenotypes for Facial Paresis, Hereditary Congenital, 1

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
absent corneal reflex response

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

Neurologic- Central Nervous System:
facial palsy, unilateral or bilateral


Clinical features from OMIM:

601471

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

32
id Description HPO Frequency HPO Source Accession
1 facial palsy 32 HP:0010628
2 abnormality of the eye 32 HP:0000478

Drugs & Therapeutics for Facial Paresis, Hereditary Congenital, 1

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search 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:

id 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:

39
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
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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