HCFP3
MCID: FCL056
MIFTS: 24

Facial Paresis, Hereditary Congenital, 3 (HCFP3)

Categories: Ear diseases, 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 57 72 13 39 70
Hereditary Congenital Facial Paresis 3 29 6
Hcfp3 57 72

Characteristics:

OMIM®:

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

Miscellaneous:
onset at birth
nonprogressive disorder


HPO:

31
facial paresis, hereditary congenital, 3:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset nonprogressive


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) (Updated 20-May-2021)

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 smooth philtrum and anteverted nares

UniProtKB/Swiss-Prot : 72 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:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 smooth philtrum 31 occasional (7.5%) HP:0000319
2 anteverted nares 31 occasional (7.5%) HP:0000463
3 micrognathia 31 occasional (7.5%) HP:0000347
4 low-set ears 31 occasional (7.5%) HP:0000369
5 midface retrusion 31 occasional (7.5%) HP:0011800
6 posteriorly rotated ears 31 occasional (7.5%) HP:0000358
7 esotropia 31 occasional (7.5%) HP:0000565
8 esophoria 31 occasional (7.5%) HP:0025312
9 ptosis 31 HP:0000508
10 dysarthria 31 HP:0001260
11 dysphagia 31 HP:0002015
12 facial palsy 31 HP:0010628
13 depressed nasal bridge 31 HP:0005280
14 delayed speech and language development 31 HP:0000750
15 short nose 31 HP:0003196
16 sensorineural hearing impairment 31 HP:0000407
17 epicanthus 31 HP:0000286
18 downturned corners of mouth 31 HP:0002714
19 feeding difficulties 31 HP:0011968
20 myopathic facies 31 HP:0002058

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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
Head And Neck Mouth:
palatal weakness
downturned corners of the mouth
tented vermilion of the upper lip

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

Clinical features from OMIM®:

614744 (Updated 20-May-2021)

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:

40
Eye

Publications for Facial Paresis, Hereditary Congenital, 3

Articles related to Facial Paresis, Hereditary Congenital, 3:

# Title Authors PMID Year
1
Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis. 6 57 61
27144914 2016
2
A new hereditary congenital facial palsy case supports arg5 in HOX-DNA binding domain as possible hot spot for mutations. 57 6
26007620 2015
3
HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice. 6 57
22770981 2012
4
Altered segmental identity and abnormal migration of motor neurons in mice lacking Hoxb-1. 57
8967950 1996
5
Mice with targeted disruption of Hoxb-1 fail to form the motor nucleus of the VIIth nerve. 57
8898234 1996

Variations for Facial Paresis, Hereditary Congenital, 3

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HOXB1 NM_002144.4(HOXB1):c.619C>T (p.Arg207Cys) SNV Pathogenic 35567 rs387907239 GRCh37: 17:46607196-46607196
GRCh38: 17:48529834-48529834
2 HOXB1 NM_002144.4(HOXB1):c.620G>A (p.Arg207His) SNV Pathogenic 495205 rs1555632121 GRCh37: 17:46607195-46607195
GRCh38: 17:48529833-48529833
3 HOXB1 NM_002144.4(HOXB1):c.66C>G (p.Tyr22Ter) SNV Pathogenic 495206 rs1247386618 GRCh37: 17:46608201-46608201
GRCh38: 17:48530839-48530839
4 HOXB1 NM_002144.4(HOXB1):c.793_794insGAGGT (p.Glu265fs) Insertion Pathogenic 1033485 GRCh37: 17:46607021-46607022
GRCh38: 17:48529659-48529660
5 HOXB1 NM_002144.4(HOXB1):c.764G>A (p.Arg255Gln) SNV Uncertain significance 635071 rs1567932264 GRCh37: 17:46607051-46607051
GRCh38: 17:48529689-48529689

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

72
# Symbol AA change Variation ID SNP ID
1 HOXB1 p.Arg207Cys VAR_068723 rs387907239

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
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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