MCID: FRN033
MIFTS: 25

Frontonasal Dysplasia 2 malady

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

Aliases & Classifications for Frontonasal Dysplasia 2

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Sources:
12diseasecard, 24GeneTests, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 51OMIM, 53Orphanet, 67UMLS, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Frontonasal Dysplasia 2:

Name: Frontonasal Dysplasia 2 51 24 69 26 12 67
Fnd2 24 69
Craniofrontonasal Dysplasia with Alopecia and Hypogonadism 53
 
Frontonasal Dysplasia with Alopecia and Genital Abnomality 53
Frontonasal Dysplasia with Alopecia and Genital Anomaly 53
Alx4-Related Fndag 53

Characteristics:

Orphanet epidemiological data:

53
craniofrontonasal dysplasia with alopecia and hypogonadism:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

OMIM51 613451
Orphanet53 ORPHA228390
ICD10 via Orphanet30 Q87.0
MedGen36 C3150703
MeSH38 D000013

Summaries for Frontonasal Dysplasia 2

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UniProtKB/Swiss-Prot:69 Frontonasal dysplasia 2: 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 2, also known as fnd2, is related to frontonasal dysplasia with alopecia and genital anomaly and frontonasal dysplasia 1, and has symptoms including cryptorchidism, abnormality of the philtrum and hypertelorism. An important gene associated with Frontonasal Dysplasia 2 is ALX4 (ALX Homeobox 4). Affiliated tissues include eye, skin and bone.

Description from OMIM:51 613451

Related Diseases for Frontonasal Dysplasia 2

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Diseases in the Frontonasal Dysplasia 1 family:

frontonasal dysplasia 2 Frontonasal Dysplasia 3
Six2-Related Frontonasal Dysplasia

Diseases related to Frontonasal Dysplasia 2 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1frontonasal dysplasia with alopecia and genital anomaly12.3
2frontonasal dysplasia 110.9

Symptoms for Frontonasal Dysplasia 2

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Symptoms by clinical synopsis from OMIM:

613451

Clinical features from OMIM:

613451

Human phenotypes related to Frontonasal Dysplasia 2:

 63 53 (show all 55)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism63 53 hallmark (90%) Very frequent (99-80%) HP:0000028
2 abnormality of the philtrum63 hallmark (90%) HP:0000288
3 hypertelorism63 53 hallmark (90%) Very frequent (99-80%) HP:0000316
4 anteverted nares63 53 hallmark (90%) Very frequent (99-80%) HP:0000463
5 strabismus63 53 hallmark (90%) Very frequent (99-80%) HP:0000486
6 telecanthus63 53 hallmark (90%) Very frequent (99-80%) HP:0000506
7 blepharophimosis63 hallmark (90%) HP:0000581
8 nystagmus63 53 hallmark (90%) Very frequent (99-80%) HP:0000639
9 calvarial skull defect63 hallmark (90%) HP:0001362
10 alopecia63 53 hallmark (90%) Very frequent (99-80%) HP:0001596
11 encephalocele63 53 hallmark (90%) Very frequent (99-80%) HP:0002084
12 midline defect of the nose63 hallmark (90%) HP:0004122
13 depressed nasal bridge63 53 hallmark (90%) Very frequent (99-80%) HP:0005280
14 aplasia/hypoplasia involving the nose63 hallmark (90%) HP:0009924
15 cognitive impairment63 hallmark (90%) HP:0100543
16 scrotal hypoplasia63 53 typical (50%) Frequent (79-30%) HP:0000046
17 low-set, posteriorly rotated ears63 typical (50%) HP:0000368
18 intrauterine growth retardation63 53 typical (50%) Frequent (79-30%) HP:0001511
19 oligohydramnios63 53 typical (50%) Frequent (79-30%) HP:0001562
20 frontal bossing63 53 typical (50%) Frequent (79-30%) HP:0002007
21 fine hair63 53 typical (50%) Frequent (79-30%) HP:0002213
22 abnormality of dental morphology63 typical (50%) HP:0006482
23 aplasia/hypoplasia of the cerebellum63 typical (50%) HP:0007360
24 aplasia/hypoplasia of the corpus callosum63 typical (50%) HP:0007370
25 aplasia/hypoplasia affecting the eye63 typical (50%) HP:0008056
26 decreased lacrimation63 rare (5%) HP:0000633
27 hypohidrosis63 rare (5%) HP:0000966
28 intellectual disability63 rare (5%) HP:0001249
29 microcephaly63 HP:0000252
30 wide nasal bridge63 HP:0000431
31 bifid nasal tip63 HP:0000456
32 depressed nasal ridge63 HP:0000457
33 sparse and thin eyebrow63 HP:0000535
34 upslanted palpebral fissure63 53 Very frequent (99-80%) HP:0000582
35 sparse eyelashes63 HP:0000653
36 cerebellar vermis hypoplasia63 HP:0001320
37 craniosynostosis63 HP:0001363
38 hypoplasia of the corpus callosum63 HP:0002079
39 parietal foramina63 HP:0002697
40 short palpebral fissure63 HP:0012745
41 hypogonadism53 Very frequent (99-80%)
42 abnormality of the teeth53 Frequent (79-30%)
43 brachycephaly53 Very frequent (99-80%)
44 broad philtrum53 Very frequent (99-80%)
45 low-set ears53 Frequent (79-30%)
46 underdeveloped nasal alae53 Very frequent (99-80%)
47 microphthalmia53 Frequent (79-30%)
48 conical tooth53 Frequent (79-30%)
49 intellectual disability, mild53 Very frequent (99-80%)
50 agenesis of corpus callosum53 Frequent (79-30%)
51 skull defect53 Very frequent (99-80%)
52 agenesis of cerebellar vermis53 Frequent (79-30%)
53 intellectual disability, moderate53 Very frequent (99-80%)
54 coronal craniosynostosis53 Very frequent (99-80%)
55 bifid nose53 Very frequent (99-80%)

Drugs & Therapeutics for Frontonasal Dysplasia 2

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Frontonasal Dysplasia 2

Genetic Tests for Frontonasal Dysplasia 2

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Genetic tests related to Frontonasal Dysplasia 2:

id Genetic test Affiliating Genes
1 Frontonasal Dysplasia 226 24 ALX4

Anatomical Context for Frontonasal Dysplasia 2

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MalaCards organs/tissues related to Frontonasal Dysplasia 2:

35
Eye, Skin, Bone, Cerebellum

Animal Models for Frontonasal Dysplasia 2 or affiliated genes

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Publications for Frontonasal Dysplasia 2

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Variations for Frontonasal Dysplasia 2

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Clinvar genetic disease variations for Frontonasal Dysplasia 2:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ALX4NM_021926.3(ALX4): c.673C> G (p.Gln225Glu)SNVPathogenicrs587777701GRCh38Chr 11, 44275452: 44275452
2ALX4NM_021926.3(ALX4): c.503delC (p.Pro168Leufs)deletionPathogenicrs876657391GRCh38Chr 11, 44275622: 44275622
3ALX4NM_021926.3(ALX4): c.291delG (p.Gln98Serfs)deletionPathogenicrs869320717GRCh38Chr 11, 44309772: 44309772
4ALX4NM_021926.3(ALX4): c.793C> T (p.Arg265Ter)SNVPathogenicrs267606653GRCh37Chr 11, 44289157: 44289157

Expression for genes affiliated with Frontonasal Dysplasia 2

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Search GEO for disease gene expression data for Frontonasal Dysplasia 2.

Pathways for genes affiliated with Frontonasal Dysplasia 2

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GO Terms for genes affiliated with Frontonasal Dysplasia 2

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Sources for Frontonasal Dysplasia 2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet