MCID: FCL056
MIFTS: 17

Facial Paresis, Hereditary Congenital, 3

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

Aliases & Classifications for Facial Paresis, Hereditary Congenital, 3

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

Name: Facial Paresis, Hereditary Congenital, 3 53 71 13 69
Hcfp3 53 71
Hereditary Congenital Facial Paresis 3 28

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
nonprogressive disorder


HPO:

31
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 hcfp3, and has symptoms including low-set ears, facial palsy and smooth philtrum. 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:

53
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 Ears:
posteriorly rotated ears (in some patients)
low-set ears (in some patients)
hearing loss, sensorineural, mild to moderate

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

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

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


Clinical features from OMIM:

614744

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

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 low-set ears 31 occasional (7.5%) HP:0000369
2 facial palsy 31 HP:0010628
3 smooth philtrum 31 occasional (7.5%) HP:0000319
4 sensorineural hearing impairment 31 HP:0000407
5 anteverted nares 31 occasional (7.5%) HP:0000463
6 micrognathia 31 occasional (7.5%) HP:0000347
7 midface retrusion 31 occasional (7.5%) HP:0011800
8 posteriorly rotated ears 31 occasional (7.5%) HP:0000358
9 esotropia 31 occasional (7.5%) HP:0000565
10 esophoria 31 occasional (7.5%) HP:0025312

Drugs & Therapeutics for Facial Paresis, Hereditary Congenital, 3

Search Clinical Trials , 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:

# Genetic test Affiliating Genes
1 Hereditary Congenital Facial Paresis 3 28 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
# 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
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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