FND3
MCID: FRN032
MIFTS: 25

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 58 76 30 13 6 74
Fnd3 58 76
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome 60
Alx1-Related Frontonasal Dysplasia 60
Dysplasia, Frontonasal, Type 3 41
Frontonasal Dysplasia Type 3 60

Characteristics:

Orphanet epidemiological data:

60
frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

33
frontonasal dysplasia 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Frontonasal Dysplasia 3

UniProtKB/Swiss-Prot : 76 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

Description from OMIM: 613456

Related Diseases for Frontonasal Dysplasia 3

Diseases in the Frontonasal Dysplasia 1 family:

Frontonasal Dysplasia 2 Frontonasal Dysplasia 3
Six2-Related Frontonasal Dysplasia

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 11.4
2 frontonasal dysplasia 1 10.3

Symptoms & Phenotypes for Frontonasal Dysplasia 3

Human phenotypes related to Frontonasal Dysplasia 3:

60 33 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 Frequent (79-30%) HP:0000316
2 intellectual disability 60 33 Occasional (29-5%) HP:0001249
3 wide nasal bridge 60 33 Frequent (79-30%) HP:0000431
4 cleft palate 60 33 Frequent (79-30%) HP:0000175
5 underdeveloped nasal alae 60 33 Frequent (79-30%) HP:0000430
6 microphthalmia 60 33 Frequent (79-30%) HP:0000568
7 low-set, posteriorly rotated ears 60 33 Frequent (79-30%) HP:0000368
8 facial cleft 60 33 Frequent (79-30%) HP:0002006
9 sparse eyelashes 60 33 Frequent (79-30%) HP:0000653
10 agenesis of corpus callosum 60 Frequent (79-30%)
11 ptosis 60 Frequent (79-30%)
12 cataract 60 Frequent (79-30%)
13 brachycephaly 33 HP:0000248
14 epicanthus 60 Frequent (79-30%)
15 hypoplasia of the maxilla 60 Frequent (79-30%)
16 conductive hearing impairment 60 Frequent (79-30%)
17 brachydactyly 60 Frequent (79-30%)
18 tetralogy of fallot 60 Occasional (29-5%)
19 preauricular skin tag 60 Frequent (79-30%)
20 camptodactyly of finger 60 Frequent (79-30%)
21 cleft eyelid 60 Frequent (79-30%)
22 finger clinodactyly 60 Frequent (79-30%)
23 upper eyelid coloboma 33 HP:0000636
24 sparse eyebrow 60 Frequent (79-30%)
25 absent eyebrow 33 HP:0002223
26 bifid nose 60 Frequent (79-30%)
27 widow's peak 60 Frequent (79-30%)
28 prominent glabella 33 HP:0002057
29 cranium bifidum occultum 60 Occasional (29-5%)
30 lipoma of corpus callosum 60 Occasional (29-5%)
31 pectoral muscle hypoplasia/aplasia 60 Frequent (79-30%)
32 hypoplasia of the frontal bone 60 Frequent (79-30%)
33 aplasia/hypoplasia of the frontal sinuses 60 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 30 ALX1

Anatomical Context for Frontonasal Dysplasia 3

MalaCards organs/tissues related to Frontonasal Dysplasia 3:

42
Eye, Bone, Skin

Publications for Frontonasal Dysplasia 3

Articles related to Frontonasal Dysplasia 3:

# Title Authors Year
1
Defective neural crest migration revealed by a Zebrafish model of Alx1-related frontonasal dysplasia. ( 23059813 )
2013

Variations for Frontonasal Dysplasia 3

ClinVar genetic disease variations for Frontonasal Dysplasia 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ALX1 NM_006982.2(ALX1): c.531+1G> A single nucleotide variant Pathogenic rs587776684 GRCh37 Chromosome 12, 85677655: 85677655
2 ALX1 NM_006982.2(ALX1): c.531+1G> A single nucleotide variant Pathogenic rs587776684 GRCh38 Chromosome 12, 85283877: 85283877
3 ALX1 NM_006982.2(ALX1): c.191G> T (p.Arg64Leu) single nucleotide variant Benign/Likely benign rs115596276 GRCh37 Chromosome 12, 85674230: 85674230
4 ALX1 NM_006982.2(ALX1): c.191G> T (p.Arg64Leu) single nucleotide variant Benign/Likely benign rs115596276 GRCh38 Chromosome 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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