HCFP2
MCID: FCL050
MIFTS: 18

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 57
Moebius Syndrome 3, Formerly; Mbs3, Formerly 57
Facial Paresis, Hereditary, Congenital 73
Moebius Syndrome 3, Formerly 57
Mobius Syndrome 3, Formerly 57
Mbs3, Formerly 57
Hcfp2 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
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 hereditary congenital facial paresis and perrault syndrome 1. 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 hereditary congenital facial paresis 9.8 MBS2 MBS3
2 perrault syndrome 1 9.7 MBS2 MBS3

Symptoms & Phenotypes for Facial Paresis, Hereditary Congenital, 2

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

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

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

32
# Description HPO Frequency HPO Source Accession
1 facial palsy 32 HP:0010628
2 hearing impairment 32 HP:0000365

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 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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