HCFP2
MCID: FCL050
MIFTS: 15

Facial Paresis, Hereditary Congenital, 2 (HCFP2)

Categories: Ear diseases, 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 70
Moebius Syndrome 3, Formerly 57
Mobius Syndrome 3, Formerly 57
Mbs3, Formerly 57
Hcfp2 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
facial paresis, hereditary congenital, 2:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course nonprogressive


Classifications:



External Ids:

OMIM® 57 604185
OMIM Phenotypic Series 57 PS601471
MedGen 41 C1858717
UMLS 70 C1858717

Summaries for Facial Paresis, Hereditary Congenital, 2

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

More information from OMIM: 604185 PS601471

Related Diseases for Facial Paresis, Hereditary Congenital, 2

Symptoms & Phenotypes for Facial Paresis, Hereditary Congenital, 2

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

31
# Description HPO Frequency HPO Source Accession
1 facial palsy 31 HP:0010628
2 hearing impairment 31 HP:0000365

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

Articles related to Facial Paresis, Hereditary Congenital, 2:

# Title Authors PMID Year
1
A second gene for autosomal dominant Möbius syndrome is localized to chromosome 10q, in a Dutch family. 57
10441582 1999
2
Hereditary congenital facial paralysis. 57
3775291 1986
3
Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis. 61
27144914 2016
4
In silico identification of new candidate genes for hereditary congenital facial paresis. 61
21345367 2011
5
Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes. 61
16912702 2006

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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