MCID: FCL056
MIFTS: 19

Facial Paresis, Hereditary Congenital, 3

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

Aliases & Classifications for Facial Paresis, Hereditary Congenital, 3

MalaCards integrated aliases for Facial Paresis, Hereditary Congenital, 3:

Name: Facial Paresis, Hereditary Congenital, 3 54 71 13 69
Hereditary Congenital Facial Paresis 3 24 29
Hcfp3 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
nonprogressive disorder


HPO:

32
facial paresis, hereditary congenital, 3:
Onset and clinical course nonprogressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Facial Paresis, Hereditary Congenital, 3

UniProtKB/Swiss-Prot : 71 Facial paresis, hereditary congenital, 3: A form of facial paresis, a disease characterized by isolated dysfunction of the facial nerve (CN VII). HCFP3 patients are affected by bilateral facial palsy, facial muscle weakness of muscles innervated by CN VII, hearing loss, and strabismus.

MalaCards based summary : Facial Paresis, Hereditary Congenital, 3, is also known as hereditary congenital facial paresis 3, and has symptoms including low-set ears, micrognathia and posteriorly rotated ears. An important gene associated with Facial Paresis, Hereditary Congenital, 3 is HOXB1 (Homeobox B1).

Description from OMIM: 614744

Related Diseases for Facial Paresis, Hereditary Congenital, 3

Symptoms & Phenotypes for Facial Paresis, Hereditary Congenital, 3

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Ears:
hearing loss, sensorineural, mild to moderate
low-set ears (in some patients)
posteriorly rotated ears (in some patients)

Neurologic- Central Nervous System:
facial muscle weakness of muscles innervated by cn vii
facial paresis, congenital bilateral

Head And Neck- Nose:
upturned nasal tip (in some patients)

Head And Neck- Face:
micrognathia (in some patients)
facial muscle weakness of muscles innervated by cn vii
smooth philtrum (in some patients)
facial paresis, congenital bilateral
midface retrusion (in some patients)

Head And Neck- Eyes:
esotropia (in some patients)
esophoria (in some patients)


Clinical features from OMIM:

614744

Human phenotypes related to Facial Paresis, Hereditary Congenital, 3:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 low-set ears 32 occasional (7.5%) HP:0000369
2 micrognathia 32 occasional (7.5%) HP:0000347
3 posteriorly rotated ears 32 occasional (7.5%) HP:0000358
4 anteverted nares 32 occasional (7.5%) HP:0000463
5 esotropia 32 occasional (7.5%) HP:0000565
6 midface retrusion 32 occasional (7.5%) HP:0011800
7 smooth philtrum 32 occasional (7.5%) HP:0000319
8 facial palsy 32 HP:0010628

Drugs & Therapeutics for Facial Paresis, Hereditary Congenital, 3

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, 3

Genetic Tests for Facial Paresis, Hereditary Congenital, 3

Genetic tests related to Facial Paresis, Hereditary Congenital, 3:

id Genetic test Affiliating Genes
1 Hereditary Congenital Facial Paresis 3 29 24 HOXB1

Anatomical Context for Facial Paresis, Hereditary Congenital, 3

Publications for Facial Paresis, Hereditary Congenital, 3

Variations for Facial Paresis, Hereditary Congenital, 3

UniProtKB/Swiss-Prot genetic disease variations for Facial Paresis, Hereditary Congenital, 3:

71
id Symbol AA change Variation ID SNP ID
1 HOXB1 p.Arg207Cys VAR_068723 rs387907239

ClinVar genetic disease variations for Facial Paresis, Hereditary Congenital, 3:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 HOXB1 NM_002144.3(HOXB1): c.619C> T (p.Arg207Cys) single nucleotide variant Pathogenic rs387907239 GRCh37 Chromosome 17, 46607196: 46607196

Expression for Facial Paresis, Hereditary Congenital, 3

Search GEO for disease gene expression data for Facial Paresis, Hereditary Congenital, 3.

Pathways for Facial Paresis, Hereditary Congenital, 3

GO Terms for Facial Paresis, Hereditary Congenital, 3

Sources for Facial Paresis, Hereditary Congenital, 3

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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