MCID: FRN032
MIFTS: 22

Frontonasal Dysplasia 3

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

Aliases & Classifications for Frontonasal Dysplasia 3

MalaCards integrated aliases for Frontonasal Dysplasia 3:

Name: Frontonasal Dysplasia 3 57 75 29 13 6 73
Fnd3 57 75
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:



Summaries for Frontonasal Dysplasia 3

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Frontonasal Dysplasia 3 is ALX1 (ALX Homeobox 1). Affiliated tissues include eye and bone, and related phenotypes are cleft palate and brachycephaly

Description from OMIM: 613456

Related Diseases for Frontonasal Dysplasia 3

Diseases in the Frontonasal Dysplasia 2 family:

Frontonasal Dysplasia 1 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 11.2

Symptoms & Phenotypes for Frontonasal Dysplasia 3

Clinical features from OMIM:

613456

Human phenotypes related to Frontonasal Dysplasia 3:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 cleft palate 32 HP:0000175
2 brachycephaly 32 HP:0000248
3 hypertelorism 32 HP:0000316
4 low-set, posteriorly rotated ears 32 HP:0000368
5 underdeveloped nasal alae 32 HP:0000430
6 wide nasal bridge 32 HP:0000431
7 microphthalmia 32 HP:0000568
8 upper eyelid coloboma 32 HP:0000636
9 sparse eyelashes 32 HP:0000653
10 intellectual disability 32 HP:0001249
11 facial cleft 32 HP:0002006
12 prominent glabella 32 HP:0002057
13 absent eyebrow 32 HP:0002223

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

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 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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