MCID: MND025
MIFTS: 36

Mandibulofacial Dysostosis with Alopecia

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

Aliases & Classifications for Mandibulofacial Dysostosis with Alopecia

MalaCards integrated aliases for Mandibulofacial Dysostosis with Alopecia:

Name: Mandibulofacial Dysostosis with Alopecia 57 12 59 75 29 6 15 40
Mfda 57 12 59 75

Characteristics:

Orphanet epidemiological data:

59
mandibulofacial dysostosis with alopecia
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
mandibulofacial dysostosis with alopecia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mandibulofacial Dysostosis with Alopecia

UniProtKB/Swiss-Prot : 75 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 alopecia and dysostosis. An important gene associated with Mandibulofacial Dysostosis with Alopecia is EDNRA (Endothelin Receptor Type A), and among its related pathways/superpathways are Endothelin Pathways and Prostaglandin Synthesis and Regulation. Affiliated tissues include skin, bone and eye, and related phenotypes are hydroureter and glossoptosis

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

Description from OMIM: 616367

Related Diseases for Mandibulofacial Dysostosis with Alopecia

Diseases related to Mandibulofacial Dysostosis with Alopecia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 alopecia 10.2
2 dysostosis 10.2
3 perinephritis 10.0 EDN1 EDNRA
4 persistent fetal circulation syndrome 9.9 EDN1 EDNRA
5 nephrogenic systemic fibrosis 9.9 EDN1 EDNRA
6 hepatopulmonary syndrome 9.9 EDN1 EDNRA
7 portal hypertension 9.8 EDN1 EDNRA
8 congestive heart failure 9.8 EDN1 EDNRA
9 autosomal dominant polycystic kidney disease 9.7 EDN1 EDNRA
10 connective tissue disease 9.6 EDN1 EDNRA
11 hypertension, essential 9.3 EDN1 EDNRA

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
conductive hearing loss
prominent ears
cupped ears
preauricular pits (in some patients)
more
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 Mouth:
cleft palate
everted lower lip
slightly asymmetric mouth
glossoptosis (rare)

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

Human phenotypes related to Mandibulofacial Dysostosis with Alopecia:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 hydroureter 32 occasional (7.5%) HP:0000072
2 glossoptosis 32 occasional (7.5%) HP:0000162
3 cleft palate 32 HP:0000175
4 trismus 32 HP:0000211
5 everted lower lip vermilion 32 HP:0000232
6 facial asymmetry 32 HP:0000324
7 hypoplasia of the maxilla 32 HP:0000327
8 micrognathia 32 HP:0000347
9 low-set ears 32 HP:0000369
10 cupped ear 32 HP:0000378
11 preauricular skin tag 32 occasional (7.5%) HP:0000384
12 stenosis of the external auditory canal 32 HP:0000402
13 conductive hearing impairment 32 HP:0000405
14 protruding ear 32 HP:0000411
15 wide nasal bridge 32 HP:0000431
16 sparse and thin eyebrow 32 HP:0000535
17 lower eyelid coloboma 32 occasional (7.5%) HP:0000652
18 sparse eyelashes 32 HP:0000653
19 dental crowding 32 HP:0000678
20 delayed eruption of primary teeth 32 HP:0000680
21 bicuspid aortic valve 32 occasional (7.5%) HP:0001647
22 preauricular pit 32 occasional (7.5%) HP:0004467
23 mandibulofacial dysostosis 32 HP:0005321

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:

41
Skin, Bone, Eye

Publications for Mandibulofacial Dysostosis with Alopecia

Articles related to Mandibulofacial Dysostosis with Alopecia:

# Title Authors Year
1
Viable Ednra (Y129F) mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation. ( 27671791 )
2016
2
Mutations in the endothelin receptor type a cause mandibulofacial dysostosis with alopecia. ( 25772936 )
2015

Variations for Mandibulofacial Dysostosis with Alopecia

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

75
# Symbol AA change Variation ID SNP ID
1 EDNRA p.Tyr129Phe VAR_073788 rs786205230
2 EDNRA p.Glu303Lys VAR_073789 rs876657388

ClinVar genetic disease variations for Mandibulofacial Dysostosis with Alopecia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EDNRA NM_001957.3(EDNRA): c.386A> T (p.Tyr129Phe) single nucleotide variant Pathogenic rs786205230 GRCh37 Chromosome 4, 148407219: 148407219
2 EDNRA NM_001957.3(EDNRA): c.386A> T (p.Tyr129Phe) single nucleotide variant Pathogenic rs786205230 GRCh38 Chromosome 4, 147486067: 147486067
3 EDNRA NM_001957.3(EDNRA): c.907G> A (p.Glu303Lys) single nucleotide variant Pathogenic rs876657388 GRCh38 Chromosome 4, 147539823: 147539823
4 EDNRA NM_001957.3(EDNRA): c.907G> A (p.Glu303Lys) single nucleotide variant Pathogenic rs876657388 GRCh37 Chromosome 4, 148460975: 148460975

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 10.79 EDN1 EDNRA
2 10.63 EDN1 EDNRA
3 10.52 EDN1 EDN3 EDNRA
4
Show member pathways
10.37 EDN1 EDNRA

GO Terms for Mandibulofacial Dysostosis with Alopecia

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 G-protein coupled receptor signaling pathway GO:0007186 9.79 EDN1 EDN3 EDNRA
2 heart development GO:0007507 9.62 EDN1 EDNRA
3 in utero embryonic development GO:0001701 9.61 EDN1 EDNRA
4 response to hypoxia GO:0001666 9.6 EDN1 EDNRA
5 positive regulation of cytosolic calcium ion concentration GO:0007204 9.59 EDN1 EDNRA
6 regulation of blood pressure GO:0008217 9.58 EDN1 EDNRA
7 neutrophil chemotaxis GO:0030593 9.58 EDN1 EDN3
8 positive regulation of MAP kinase activity GO:0043406 9.57 EDN1 EDN3
9 adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway GO:0007193 9.56 EDN1 EDNRA
10 respiratory gaseous exchange GO:0007585 9.55 EDN1 EDNRA
11 branching involved in blood vessel morphogenesis GO:0001569 9.54 EDN1 EDNRA
12 positive regulation of mitotic nuclear division GO:0045840 9.52 EDN1 EDN3
13 regulation of vasoconstriction GO:0019229 9.51 EDN1 EDN3
14 neural crest cell development GO:0014032 9.49 EDN1 EDNRA
15 positive regulation of heart rate GO:0010460 9.48 EDN1 EDN3
16 regulation of blood vessel size GO:0050880 9.46 EDN1 EDN3
17 inositol phosphate-mediated signaling GO:0048016 9.43 EDN1 EDN3
18 positive regulation of hormone secretion GO:0046887 9.4 EDN1 EDN3
19 regulation of glucose transmembrane transport GO:0010827 9.37 EDN1 EDNRA
20 regulation of systemic arterial blood pressure by endothelin GO:0003100 9.32 EDN1 EDN3
21 peptide hormone secretion GO:0030072 9.26 EDN1 EDN3
22 vein smooth muscle contraction GO:0014826 9.16 EDN1 EDN3
23 vasoconstriction GO:0042310 9.13 EDN1 EDN3 EDNRA
24 artery smooth muscle contraction GO:0014824 8.8 EDN1 EDN3 EDNRA

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.96 EDN1 EDN3
2 endothelin B receptor binding GO:0031708 8.62 EDN1 EDN3

Sources for Mandibulofacial Dysostosis with Alopecia

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
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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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