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 57 75 13 40 73
Hereditary Congenital Facial Paresis 3 29 6
Hcfp3 57 75

Characteristics:

OMIM:

57
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

OMIM : 57 HCFP3 is an autosomal recessive congenital cranial dysinnervation disorder characterized by isolated dysfunction of the seventh cranial nerve resulting in facial palsy. Additional features may include orofacial anomalies, such as smooth philtrum, lagophthalmos, swallowing difficulties, and dysarthria, as well as hearing loss. There is some phenotypic overlap with Moebius syndrome (see, e.g., 157900), but patients with HCFP usually retain full eye motility or have esotropia without paralysis of the sixth cranial nerve (summary by Vogel et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of hereditary congenital facial paresis, see 601471. (614744)

MalaCards based summary : Facial Paresis, Hereditary Congenital, 3, is also known as hereditary congenital facial paresis 3. An important gene associated with Facial Paresis, Hereditary Congenital, 3 is HOXB1 (Homeobox B1). Affiliated tissues include eye, and related phenotypes are low-set ears and facial palsy

UniProtKB/Swiss-Prot : 75 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.

Related Diseases for Facial Paresis, Hereditary Congenital, 3

Symptoms & Phenotypes for Facial Paresis, Hereditary Congenital, 3

Symptoms via clinical synopsis from OMIM:

57
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:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 occasional (7.5%) HP:0000369
2 facial palsy 32 HP:0010628
3 smooth philtrum 32 occasional (7.5%) HP:0000319
4 sensorineural hearing impairment 32 HP:0000407
5 anteverted nares 32 occasional (7.5%) HP:0000463
6 micrognathia 32 occasional (7.5%) HP:0000347
7 midface retrusion 32 occasional (7.5%) HP:0011800
8 posteriorly rotated ears 32 occasional (7.5%) HP:0000358
9 esotropia 32 occasional (7.5%) HP:0000565
10 esophoria 32 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 29 HOXB1

Anatomical Context for Facial Paresis, Hereditary Congenital, 3

MalaCards organs/tissues related to Facial Paresis, Hereditary Congenital, 3:

41
Eye

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:

75
# 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
2 HOXB1 NM_002144.3(HOXB1): c.619C> T (p.Arg207Cys) single nucleotide variant Pathogenic rs387907239 GRCh38 Chromosome 17, 48529834: 48529834
3 HOXB1 NM_002144.3(HOXB1): c.620G> A (p.Arg207His) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 48529833: 48529833
4 HOXB1 NM_002144.3(HOXB1): c.620G> A (p.Arg207His) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 46607195: 46607195
5 HOXB1 NM_002144.3(HOXB1): c.66C> G (p.Tyr22Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 46608201: 46608201
6 HOXB1 NM_002144.3(HOXB1): c.66C> G (p.Tyr22Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 48530839: 48530839

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
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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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