Facial Paresis, Hereditary Congenital, 3; Hcfp3

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

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}.

Genes related to Facial Paresis, Hereditary Congenital, 3; Hcfp3

HOXB1

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Clinical Features

Top most frequent phenotypes and symptoms related to Facial Paresis, Hereditary Congenital, 3; Hcfp3

Hearing impairment
Micrognathia
Strabismus
Sensorineural hearing impairment
Abnormal facial shape
Ptosis
Low-set ears
High palate
Feeding difficulties
Delayed speech and language development

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Facial Paresis, Hereditary Congenital, 3; Hcfp3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hearing Loss Advanced Sequencing and CNV Evaluation. By Athena Diagnostics Inc (United States). BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...) View the complete list with 149 more genes Panel complete gene list BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ACTB, ESPN, CLIC5, BDP1, CDH23, CABP2, RIPOR2, CACNA1D, ACTG1, PCDH15, P2RX2, DIAPH3, ANKH, OSBPL2, ABHD12, STRC, CD151, CD164, USH1G, WHRN, OTOA, NLRP3, SLC4A11, BSND, TMC1, TRIOBP, LARS2, CDC14A, CHSY1, ADGRV1, HOMER2, CCDC50, DCDC2, GIPC3, SLC17A8, POLR1C, CLDN14, POLR1D, CHD7, CLPP, LHFPL5, EPS8L2, DIABLO, COCH, COL11A1, COL11A2, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, PNPT1, ADCY1, MYH14, SLITRK6, CRYM, CISD2, CIB2, LRTOMT, ELMOD3, PDZD7, NARS2, MARVELD2, LOXHD1, SYNE4, TPRN, OTOGL, TMEM132E, GRHL2, GSDME, ILDR1, DIAPH1, DLX5, TBC1D24, CEMIP, PJVK, DNMT1, DSPP, TMIE, MIR96, GRXCR1, S1PR2, EDN3, EDNRA, EDNRB, CEACAM16, GRXCR2, EPS8, ERCC2, ERCC3, ESRRB, EYA1, EYA4, FGF3, FGFR1, FGFR2, FGFR3, FOXI1, GATA3, ALMS1, GJB2, GJB6, HARS2, HGF, HOXB1, HSD17B4, TNC, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, MANBA, MCM2, MET, MT-TS1, MT-TS2, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NDP, NR2F1, OPA1, ATP2B2, OTOF, OTOG, ATP6V1B1, ATP6V1B2, PAX3, AIFM1, SLC26A4, PEX1, PEX6, SERPINB6, PMP22, POU3F4, POU4F3, SLC26A5, PRPS1, PTPRQ, RDX Specificity 1 % Genes 100 %
HOXB1. By Institute for Human Genetics University Clinic Freiburg (Germany). HOXB1 Specificity 100 % Genes 100 %
Facial paresis, hereditary congenital, type 3 (sequence analysis of HOXB1 gene). By CGC Genetics (Portugal). HOXB1 Specificity 100 % Genes 100 %
Syndromic deafness (NGS panel for 62 genes). By CGC Genetics (Portugal). SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SOX10, TCOF1, TFAP2A, TIMM8A, TYR, USH1C, USH2A, CLRN1, WFS1, CDH23, CACNA1D, PCDH15, ANKH, ABHD12, CD151 , (...) View the complete list with 41 more genes Panel complete gene list SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SOX10, TCOF1, TFAP2A, TIMM8A, TYR, USH1C, USH2A, CLRN1, WFS1, CDH23, CACNA1D, PCDH15, ANKH, ABHD12, CD151, USH1G, WHRN, NLRP3, BSND, CHSY1, ADGRV1, CDKN1C, POLR1C, POLR1D, CHD7, COL11A1, COL11A2, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, SLITRK6, CIB2, PDZD7, DLX5, EDN3, EDNRB, EYA1, FGF3, FOXI1, GATA3, ALMS1, HOXB1, KCNE1, KCNJ10, KCNQ1, MANBA, MITF, MYO7A, NDP, ATP6V1B1, PAX3, SLC26A4 Specificity 2 % Genes 100 %
Syndromic and non syndromic deafness (NGS panel for 127 genes). By CGC Genetics (Portugal). SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SNAI2, SMPX, SOX10, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, TYR, USH1C, USH2A, CLRN1, TSPEAR, WFS1 , (...) View the complete list with 105 more genes Panel complete gene list SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SNAI2, SMPX, SOX10, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, TYR, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN, CLIC5, CDH23, CABP2, CACNA1D, ACTG1, PCDH15, DIAPH3, ANKH, ABHD12, STRC, CD151, USH1G, WHRN, OTOA, NLRP3, BSND, TMC1, TMC2, TRIOBP, CHSY1, ADGRV1, CDKN1C, CCDC50, GIPC3, SLC17A8, POLR1C, CLDN14, POLR1D, CHD7, LHFPL5, DIABLO, COCH, COL11A1, COL11A2, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, MYH14, SLITRK6, CRYM, CIB2, LRTOMT, PDZD7, MARVELD2, LOXHD1, TPRN, OTOGL, MSRB3, GRHL2, GSDME, ILDR1, DIAPH1, DLX5, GPSM2, PJVK, DSPP, TMIE, MIR96, GRXCR1, EDN3, EDNRB, CEACAM16, ESRRB, EYA1, EYA4, FGF3, FOXI1, GATA3, ALMS1, GJB2, GJB6, HGF, HOXB1, TNC, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, MANBA, MITF, MYH9, MYO15A, MYO1A, MYO3A, MYO6, MYO7A, NDP, OTOF, OTOG, ATP6V1B1, PAX3, SLC26A4, SERPINB6, POU3F4, POU4F3, SLC26A5, PRPS1, PTPRQ, RDX Specificity 1 % Genes 100 %
Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). ROBO3, SALL4, KIF21A, CHN1, TUBB3, TUBB2B, ECEL1, HOXA1, HOXB1, PHOX2A Specificity 10 % Genes 100 %
Facial paresis type 3. By Centogene AG - the Rare Disease Company (Germany). HOXB1 Specificity 100 % Genes 100 %
Syndromic Hearing Loss Panel. By CeGaT GmbH (Germany). SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SOX10, TCOF1, TFAP2A, TIMM8A, TYR, USH1C, USH2A, CLRN1, WFS1, CDH23, CACNA1D, PCDH15, ANKH, ABHD12, CD151 , (...) View the complete list with 41 more genes Panel complete gene list SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SOX10, TCOF1, TFAP2A, TIMM8A, TYR, USH1C, USH2A, CLRN1, WFS1, CDH23, CACNA1D, PCDH15, ANKH, ABHD12, CD151, USH1G, WHRN, NLRP3, BSND, CHSY1, ADGRV1, CDKN1C, POLR1C, POLR1D, CHD7, COL11A1, COL11A2, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, SLITRK6, CIB2, PDZD7, DLX5, EDN3, EDNRB, EYA1, FGF3, FOXI1, GATA3, ALMS1, HOXB1, KCNE1, KCNJ10, KCNQ1, MANBA, MITF, MYO7A, NDP, ATP6V1B1, PAX3, SLC26A4 Specificity 2 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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