FND3
MCID: FRN032
MIFTS: 26

Frontonasal Dysplasia 3 (FND3)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Frontonasal Dysplasia 3

MalaCards integrated aliases for Frontonasal Dysplasia 3:

Name: Frontonasal Dysplasia 3 57 74 29 13 6 72
Fnd3 57 74
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome 59
Alx1-Related Frontonasal Dysplasia 59
Dysplasia, Frontonasal, Type 3 40
Frontonasal Dysplasia Type 3 59

Characteristics:

Orphanet epidemiological data:

59
frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
frontonasal dysplasia 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

MeSH 44 D000013
Orphanet 59 ORPHA306542
MedGen 42 C3150706
UMLS 72 C3150706

Summaries for Frontonasal Dysplasia 3

UniProtKB/Swiss-Prot : 74 Frontonasal dysplasia 3: The term frontonasal dysplasia describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline.

MalaCards based summary : Frontonasal Dysplasia 3, also known as fnd3, is related to frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome and frontonasal dysplasia 1. An important gene associated with Frontonasal Dysplasia 3 is ALX1 (ALX Homeobox 1). Affiliated tissues include eye, bone and skin, and related phenotypes are hypertelorism and intellectual disability

More information from OMIM: 613456 PS136760

Related Diseases for Frontonasal Dysplasia 3

Diseases in the Frontonasal Dysplasia 1 family:

Frontonasal Dysplasia 2 Frontonasal Dysplasia 3

Diseases related to Frontonasal Dysplasia 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome 11.5
2 frontonasal dysplasia 1 10.4
3 hypertelorism 10.4
4 microphthalmia 10.4
5 orofacial clefting syndrome 10.4

Graphical network of the top 20 diseases related to Frontonasal Dysplasia 3:



Diseases related to Frontonasal Dysplasia 3

Symptoms & Phenotypes for Frontonasal Dysplasia 3

Human phenotypes related to Frontonasal Dysplasia 3:

59 32 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 Frequent (79-30%) HP:0000316
2 intellectual disability 59 32 Occasional (29-5%) HP:0001249
3 wide nasal bridge 59 32 Frequent (79-30%) HP:0000431
4 cleft palate 59 32 Frequent (79-30%) HP:0000175
5 underdeveloped nasal alae 59 32 Frequent (79-30%) HP:0000430
6 microphthalmia 59 32 Frequent (79-30%) HP:0000568
7 low-set, posteriorly rotated ears 59 32 Frequent (79-30%) HP:0000368
8 facial cleft 59 32 Frequent (79-30%) HP:0002006
9 sparse eyelashes 59 32 Frequent (79-30%) HP:0000653
10 agenesis of corpus callosum 59 Frequent (79-30%)
11 ptosis 59 Frequent (79-30%)
12 cataract 59 Frequent (79-30%)
13 brachycephaly 32 HP:0000248
14 epicanthus 59 Frequent (79-30%)
15 hypoplasia of the maxilla 59 Frequent (79-30%)
16 tetralogy of fallot 59 Occasional (29-5%)
17 preauricular skin tag 59 Frequent (79-30%)
18 cleft eyelid 59 Frequent (79-30%)
19 brachydactyly 59 Frequent (79-30%)
20 conductive hearing impairment 59 Frequent (79-30%)
21 camptodactyly of finger 59 Frequent (79-30%)
22 finger clinodactyly 59 Frequent (79-30%)
23 upper eyelid coloboma 32 HP:0000636
24 sparse eyebrow 59 Frequent (79-30%)
25 absent eyebrow 32 HP:0002223
26 bifid nose 59 Frequent (79-30%)
27 widow's peak 59 Frequent (79-30%)
28 prominent glabella 32 HP:0002057
29 cranium bifidum occultum 59 Occasional (29-5%)
30 lipoma of corpus callosum 59 Occasional (29-5%)
31 pectoral muscle hypoplasia/aplasia 59 Frequent (79-30%)
32 hypoplasia of the frontal bone 59 Frequent (79-30%)
33 aplasia/hypoplasia of the frontal sinuses 59 Frequent (79-30%)

Clinical features from OMIM:

613456

Drugs & Therapeutics for Frontonasal Dysplasia 3

Search Clinical Trials , NIH Clinical Center for Frontonasal Dysplasia 3

Genetic Tests for Frontonasal Dysplasia 3

Genetic tests related to Frontonasal Dysplasia 3:

# Genetic test Affiliating Genes
1 Frontonasal Dysplasia 3 29 ALX1

Anatomical Context for Frontonasal Dysplasia 3

MalaCards organs/tissues related to Frontonasal Dysplasia 3:

41
Eye, Bone, Skin

Publications for Frontonasal Dysplasia 3

Articles related to Frontonasal Dysplasia 3:

# Title Authors PMID Year
1
Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia. 8 71
20451171 2010
2
Aristaless-Like Homeobox protein 1 (ALX1) variant associated with craniofacial structure and frontonasal dysplasia in Burmese cats. 38
26610632 2016
3
Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype. 38
24376213 2014

Variations for Frontonasal Dysplasia 3

ClinVar genetic disease variations for Frontonasal Dysplasia 3:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ALX1 NM_006982.3(ALX1): c.531+1G> A single nucleotide variant Pathogenic rs587776684 12:85677655-85677655 12:85283877-85283877
2 ALX1 NM_006982.3(ALX1): c.191G> T (p.Arg64Leu) single nucleotide variant Benign/Likely benign rs115596276 12:85674230-85674230 12:85280452-85280452

Expression for Frontonasal Dysplasia 3

Search GEO for disease gene expression data for Frontonasal Dysplasia 3.

Pathways for Frontonasal Dysplasia 3

GO Terms for Frontonasal Dysplasia 3

Sources for Frontonasal Dysplasia 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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