MFDA
MCID: MND025
MIFTS: 39

Mandibulofacial Dysostosis with Alopecia (MFDA)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Mandibulofacial Dysostosis with Alopecia

MalaCards integrated aliases for Mandibulofacial Dysostosis with Alopecia:

Name: Mandibulofacial Dysostosis with Alopecia 57 12 58 72 36 29 6 15 39
Mfda 57 12 58 72

Characteristics:

Orphanet epidemiological data:

58
mandibulofacial dysostosis with alopecia
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
somatic mosaicism has been observed in some patients


HPO:

31
mandibulofacial dysostosis with alopecia:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Mandibulofacial Dysostosis with Alopecia

UniProtKB/Swiss-Prot : 72 Mandibulofacial dysostosis with alopecia: A form of mandibulofacial dysostosis, a disorder characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids. MFDA features include maxillary dysmorphism with dysplastic zygomatic arch, hypoplastic mandible, scalp alopecia, scant eyebrows and eyelashes, severe hypoplasia or aplasia of eyelids, small cupped dysplastic ears, conductive hearing loss, cleft palate, dental anomalies, micrognathia, and limited jaw mobility.

MalaCards based summary : Mandibulofacial Dysostosis with Alopecia, also known as mfda, is related to dysostosis and alopecia. An important gene associated with Mandibulofacial Dysostosis with Alopecia is EDNRA (Endothelin Receptor Type A), and among its related pathways/superpathways are Development Angiotensin activation of ERK and Development Endothelin-1/EDNRA signaling. Affiliated tissues include bone, and related phenotypes are bicuspid aortic valve and preauricular skin tag

Disease Ontology : 12 A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia.

KEGG : 36 Mandibulofacial dysostosis with alopecia (MFDA) is a syndrome caused by de novo missense substitutions in EDNRA gene. The mandibulofacial dysostoses (MFDs) are characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids. All MFDA-affected individuals present with alopecia.

More information from OMIM: 616367

Related Diseases for Mandibulofacial Dysostosis with Alopecia

Graphical network of the top 20 diseases related to Mandibulofacial Dysostosis with Alopecia:



Diseases related to Mandibulofacial Dysostosis with Alopecia

Symptoms & Phenotypes for Mandibulofacial Dysostosis with Alopecia

Human phenotypes related to Mandibulofacial Dysostosis with Alopecia:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 bicuspid aortic valve 31 occasional (7.5%) HP:0001647
2 preauricular skin tag 31 occasional (7.5%) HP:0000384
3 glossoptosis 31 occasional (7.5%) HP:0000162
4 preauricular pit 31 occasional (7.5%) HP:0004467
5 hydroureter 31 occasional (7.5%) HP:0000072
6 lower eyelid coloboma 31 occasional (7.5%) HP:0000652
7 wide nasal bridge 31 HP:0000431
8 everted lower lip vermilion 31 HP:0000232
9 cleft palate 31 HP:0000175
10 micrognathia 31 HP:0000347
11 low-set ears 31 HP:0000369
12 alopecia 31 HP:0001596
13 hypoplasia of the maxilla 31 HP:0000327
14 dental crowding 31 HP:0000678
15 conductive hearing impairment 31 HP:0000405
16 facial asymmetry 31 HP:0000324
17 protruding ear 31 HP:0000411
18 trismus 31 HP:0000211
19 stenosis of the external auditory canal 31 HP:0000402
20 delayed eruption of primary teeth 31 HP:0000680
21 cupped ear 31 HP:0000378
22 sparse eyelashes 31 HP:0000653
23 mandibulofacial dysostosis 31 HP:0005321
24 sparse and thin eyebrow 31 HP:0000535

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Mouth:
cleft palate
everted lower lip
slightly asymmetric mouth
glossoptosis (rare)

Head And Neck Teeth:
dental crowding
delayed eruption of primary teeth
irregular placement of primary teeth
agenesis of multiple permanent teeth

Skin Nails Hair Hair:
sparse eyelashes
scant body hair
sparse eyebrows
scalp alopecia, near-complete

Head And Neck Nose:
broad nasal bridge
square nasal tip

Head And Neck Head:
thin or absent scalp hair

Respiratory Nasopharynx:
upper airway obstruction requiring tracheostomy (in some patients)

Head And Neck Ears:
low-set ears
conductive hearing loss
prominent ears
cupped ears
preauricular pits (in some patients)
more
Head And Neck Eyes:
sparse eyelashes
sparse eyebrows
horizontal palpebral fissures
hypoplasia or aplasia of eyelids
coloboma of lower eyelid (in some patients)
more
Head And Neck Face:
maxillary hypoplasia
facial asymmetry, mild
zygomatic arch dysplasia
mandibular dysplasia
limited jaw mobility

Skeletal Skull:
mandibular hypoplasia
narrow external auditory canals
zygomatic arch dysplasia
anterior displacement of coronal suture
absent zygomatic process of temporal bone
more
Cardiovascular Heart:
bicuspid aortic valve (rare)

Genitourinary Ureters:
megaureter (rare)

Clinical features from OMIM®:

616367 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mandibulofacial Dysostosis with Alopecia

Search Clinical Trials , NIH Clinical Center for Mandibulofacial Dysostosis with Alopecia

Genetic Tests for Mandibulofacial Dysostosis with Alopecia

Genetic tests related to Mandibulofacial Dysostosis with Alopecia:

# Genetic test Affiliating Genes
1 Mandibulofacial Dysostosis with Alopecia 29 EDNRA

Anatomical Context for Mandibulofacial Dysostosis with Alopecia

MalaCards organs/tissues related to Mandibulofacial Dysostosis with Alopecia:

40
Bone

Publications for Mandibulofacial Dysostosis with Alopecia

Articles related to Mandibulofacial Dysostosis with Alopecia:

(show all 17)
# Title Authors PMID Year
1
Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia. 57 6 61
25772936 2015
2
Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome? 6 57
20583178 2010
3
Johnson-McMillin syndrome: report of a new case with novel features. 57 6
16116593 2005
4
Rapid and sensitive detection of cardiac troponin I using a force enhanced immunoassay with nanoporous membrane. 61
32500903 2020
5
Loss-of-function of Endothelin receptor type A results in Oro-Oto-Cardiac syndrome. 61
32133772 2020
6
Uptake and effectiveness of two-drug compared with three-drug antiretroviral regimens among HIV-positive individuals in Europe. 61
31335807 2019
7
Viable Ednra Y129F mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation. 61
27671791 2016
8
Crystal structures of MdfA complexed with acetylcholine and inhibitor reserpine. 61
28018966 2016
9
A flexible Eu(III)-based metal-organic framework: turn-off luminescent sensor for the detection of Fe(III) and picric acid. 61
23860940 2013
10
A microporous luminescent europium metal-organic framework for nitro explosive sensing. 61
23446909 2013
11
Metabolic activation of furfuryl alcohol: formation of 2-methylfuranyl DNA adducts in Salmonella typhimurium strains expressing human sulfotransferase 1A1 and in FVB/N mice. 61
21729924 2011
12
A modified midfacial degloving approach for the treatment of unilateral paranasal sinus tumours. 61
20673637 2011
13
Antioxidant activity, total phenolics content, anthocyanin, and color stability of isotonic model beverages colored with Andes berry (Rubus glaucus Benth) anthocyanin powder. 61
21535712 2011
14
Multivariate frequency domain analysis of protein dynamics. 61
19334805 2009
15
Increasing sensitivity of Ca2+ spark detection in noisy images by application of a matched-filter object detection algorithm. 61
18835890 2008
16
The DeltauvrB mutations in the Ames strains of Salmonella span 15 to 119 genes. 61
11600126 2001
17
Flow cytometric analysis of cell cycle-dependent changes in cell thiol level by combining a new laser dye with Hoechst 33342. 61
1710962 1991

Variations for Mandibulofacial Dysostosis with Alopecia

ClinVar genetic disease variations for Mandibulofacial Dysostosis with Alopecia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EDNRA NM_001957.4(EDNRA):c.386A>T (p.Tyr129Phe) SNV Pathogenic 190323 rs786205230 GRCh37: 4:148407219-148407219
GRCh38: 4:147486067-147486067
2 EDNRA NM_001957.4(EDNRA):c.907G>A (p.Glu303Lys) SNV Pathogenic 190324 rs876657388 GRCh37: 4:148460975-148460975
GRCh38: 4:147539823-147539823

UniProtKB/Swiss-Prot genetic disease variations for Mandibulofacial Dysostosis with Alopecia:

72
# Symbol AA change Variation ID SNP ID
1 EDNRA p.Tyr129Phe VAR_073788 rs786205230
2 EDNRA p.Glu303Lys VAR_073789 rs876657388

Expression for Mandibulofacial Dysostosis with Alopecia

Search GEO for disease gene expression data for Mandibulofacial Dysostosis with Alopecia.

Pathways for Mandibulofacial Dysostosis with Alopecia

Pathways related to Mandibulofacial Dysostosis with Alopecia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.39 GNAI3 EDN3 EDN1
2
Show member pathways
12.2 GNAI3 EDNRA EDN1
3
Show member pathways
12.02 GNAI3 EDNRA EDN3 EDN1
4 11.59 GNAI3 EDNRA EDN3 EDN1
5 11.06 EDNRA EDN3 EDN1
6 10.94 EDNRA EDN1
7 10.85 EDNRA EDN1
8 10.76 GNAI3 EDNRA EDN3 EDN1
9
Show member pathways
10.74 EDNRA EDN1

GO Terms for Mandibulofacial Dysostosis with Alopecia

Biological processes related to Mandibulofacial Dysostosis with Alopecia according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor signaling pathway GO:0007186 9.91 GNAI3 EDNRA EDN3 EDN1
2 neutrophil chemotaxis GO:0030593 9.6 EDN3 EDN1
3 regulation of blood pressure GO:0008217 9.59 EDNRA EDN1
4 positive regulation of MAP kinase activity GO:0043406 9.58 EDN3 EDN1
5 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.58 GNAI3 EDN1
6 respiratory gaseous exchange GO:0007585 9.57 EDNRA EDN1
7 branching involved in blood vessel morphogenesis GO:0001569 9.56 EDNRA EDN1
8 positive regulation of mitotic nuclear division GO:0045840 9.55 EDN3 EDN1
9 neural crest cell development GO:0014032 9.54 EDNRA EDN1
10 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway GO:0007193 9.54 GNAI3 EDNRA EDN1
11 regulation of vasoconstriction GO:0019229 9.52 EDN3 EDN1
12 positive regulation of heart rate GO:0010460 9.51 EDN3 EDN1
13 inositol phosphate-mediated signaling GO:0048016 9.49 EDN3 EDN1
14 positive regulation of hormone secretion GO:0046887 9.48 EDN3 EDN1
15 regulation of glucose transmembrane transport GO:0010827 9.46 EDNRA EDN1
16 endothelin receptor signaling pathway GO:0086100 9.43 EDNRA EDN1
17 regulation of systemic arterial blood pressure by endothelin GO:0003100 9.4 EDN3 EDN1
18 positive regulation of prostaglandin-endoperoxide synthase activity GO:0060585 9.32 EDN3 EDN1
19 peptide hormone secretion GO:0030072 9.26 EDN3 EDN1
20 vein smooth muscle contraction GO:0014826 9.16 EDN3 EDN1
21 vasoconstriction GO:0042310 9.13 EDNRA EDN3 EDN1
22 artery smooth muscle contraction GO:0014824 8.8 EDNRA EDN3 EDN1

Molecular functions related to Mandibulofacial Dysostosis with Alopecia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endothelin B receptor binding GO:0031708 8.62 EDN3 EDN1

Sources for Mandibulofacial Dysostosis with Alopecia

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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