HCFP2
MCID: FCL050
MIFTS: 17

Facial Paresis, Hereditary Congenital, 2 (HCFP2)

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

Aliases & Classifications for Facial Paresis, Hereditary Congenital, 2

MalaCards integrated aliases for Facial Paresis, Hereditary Congenital, 2:

Name: Facial Paresis, Hereditary Congenital, 2 58
Moebius Syndrome 3, Formerly; Mbs3, Formerly 58
Facial Paresis, Hereditary, Congenital 74
Moebius Syndrome 3, Formerly 58
Mobius Syndrome 3, Formerly 58
Mbs3, Formerly 58
Hcfp2 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
nonprogressive disorder
occurs in the absence of trauma
genetic heterogeneity (see hcfp1, )


HPO:

33
facial paresis, hereditary congenital, 2:
Onset and clinical course nonprogressive
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Facial Paresis, Hereditary Congenital, 2

MalaCards based summary : Facial Paresis, Hereditary Congenital, 2, also known as moebius syndrome 3, formerly; mbs3, formerly, is related to perrault syndrome 1 and hereditary congenital facial paresis. An important gene associated with Facial Paresis, Hereditary Congenital, 2 is MBS3 (Moebius Syndrome 3). Related phenotypes are facial palsy and hearing impairment

Description from OMIM: 604185

Related Diseases for Facial Paresis, Hereditary Congenital, 2

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, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 perrault syndrome 1 9.7 MBS2 MBS3
2 hereditary congenital facial paresis 9.5 MBS2 MBS3

Symptoms & Phenotypes for Facial Paresis, Hereditary Congenital, 2

Human phenotypes related to Facial Paresis, Hereditary Congenital, 2:

33
# Description HPO Frequency HPO Source Accession
1 facial palsy 33 HP:0010628
2 hearing impairment 33 HP:0000365

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Face:
facial palsy, unilateral or bilateral
facial muscle weakness of muscles innervated by cn vii

Head And Neck Ears:
a subset of patients have hearing loss

Neurologic Central Nervous System:
facial palsy, unilateral or bilateral

Clinical features from OMIM:

604185

Drugs & Therapeutics for Facial Paresis, Hereditary Congenital, 2

Search Clinical Trials , NIH Clinical Center for Facial Paresis, Hereditary Congenital, 2

Genetic Tests for Facial Paresis, Hereditary Congenital, 2

Anatomical Context for Facial Paresis, Hereditary Congenital, 2

Publications for Facial Paresis, Hereditary Congenital, 2

Variations for Facial Paresis, Hereditary Congenital, 2

Expression for Facial Paresis, Hereditary Congenital, 2

Search GEO for disease gene expression data for Facial Paresis, Hereditary Congenital, 2.

Pathways for Facial Paresis, Hereditary Congenital, 2

GO Terms for Facial Paresis, Hereditary Congenital, 2

Sources for Facial Paresis, Hereditary Congenital, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....