HCFP3
MCID: FCL056
MIFTS: 19

Facial Paresis, Hereditary Congenital, 3 (HCFP3)

Categories: Fetal diseases, Genetic diseases, Neuronal 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 58 76 13 41 74
Hereditary Congenital Facial Paresis 3 30 6
Hcfp3 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
nonprogressive disorder


HPO:

33
facial paresis, hereditary congenital, 3:
Onset and clinical course nonprogressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Facial Paresis, Hereditary Congenital, 3

OMIM : 58 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 smooth philtrum

UniProtKB/Swiss-Prot : 76 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

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

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 low-set ears 33 occasional (7.5%) HP:0000369
2 smooth philtrum 33 occasional (7.5%) HP:0000319
3 anteverted nares 33 occasional (7.5%) HP:0000463
4 micrognathia 33 occasional (7.5%) HP:0000347
5 midface retrusion 33 occasional (7.5%) HP:0011800
6 posteriorly rotated ears 33 occasional (7.5%) HP:0000358
7 esotropia 33 occasional (7.5%) HP:0000565
8 esophoria 33 occasional (7.5%) HP:0025312
9 facial palsy 33 HP:0010628
10 sensorineural hearing impairment 33 HP:0000407

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
posteriorly rotated ears
hearing loss, sensorineural, mild to moderate (in some patients)
external auricular malformations (1 family)

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

Head And Neck Nose:
depressed nasal bridge
short nose
anteverted nares
upturned nasal tip

Head And Neck Mouth:
downturned corners of the mouth
palatal weakness
tented vermilion of the upper lip

Head And Neck Eyes:
ptosis
epicanthal folds
lagophthalmos
esotropia (in some patients)
esophoria (in some patients)

Abdomen Gastrointestinal:
dysphagia
feeding difficulties

Head And Neck Face:
smooth philtrum
micrognathia
midface retrusion
myopathic facies
facial muscle weakness of muscles innervated by cn vii
more

Clinical features from OMIM:

614744

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 30 HOXB1

Anatomical Context for Facial Paresis, Hereditary Congenital, 3

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

42
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:

76
# 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 rs1555632121 GRCh38 Chromosome 17, 48529833: 48529833
4 HOXB1 NM_002144.3(HOXB1): c.620G> A (p.Arg207His) single nucleotide variant Pathogenic rs1555632121 GRCh37 Chromosome 17, 46607195: 46607195
5 HOXB1 NM_002144.3(HOXB1): c.66C> G (p.Tyr22Ter) single nucleotide variant Pathogenic rs1247386618 GRCh37 Chromosome 17, 46608201: 46608201
6 HOXB1 NM_002144.3(HOXB1): c.66C> G (p.Tyr22Ter) single nucleotide variant Pathogenic rs1247386618 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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