MCID: FRN033
MIFTS: 33

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:
50OMIM, 23GeneTests, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 66UMLS, 52Orphanet, 29ICD10 via Orphanet, 35MedGen, 37MeSH
See all MalaCards sources

Aliases & Descriptions for Frontonasal Dysplasia 2:

Name: Frontonasal Dysplasia 2 50 23 68 25 12 66
Fnd2 23 68
Craniofrontonasal Dysplasia with Alopecia and Hypogonadism 52
 
Frontonasal Dysplasia with Alopecia and Genital Abnomality 52
Frontonasal Dysplasia with Alopecia and Genital Anomaly 52
Alx4-Related Fndag 52

Characteristics:

Orphanet epidemiological data:

52
craniofrontonasal dysplasia with alopecia and hypogonadism:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

OMIM50 613451
Orphanet52 ORPHA228390
ICD10 via Orphanet29 Q87.0
MedGen35 C3150703
MeSH37 D000013

Summaries for Frontonasal Dysplasia 2

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UniProtKB/Swiss-Prot:68 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 1 and craniosynostosis 5, 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:50 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 110.0
2craniosynostosis 59.6ALX4, MSX2
3cardiomyopathy, hypertrophic, 49.6ALX4, MSX2
4frontonasal dysplasia 29.5ALX4, MSX2
5y-linked disease9.5ALX4, MSX2
6parietal foramina with cleidocranial dysplasia9.4ALX4, MSX2
7crohn's disease9.2ALX4, MSX2

Graphical network of diseases related to Frontonasal Dysplasia 2:



Diseases related to frontonasal dysplasia 2

Symptoms for Frontonasal Dysplasia 2

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Symptoms by clinical synopsis from OMIM:

613451

Clinical features from OMIM:

613451

Symptoms:

 52 (show all 30)
  • cryptorchidism
  • scrotal hypoplasia
  • hypogonadism
  • abnormality of the teeth
  • brachycephaly
  • broad philtrum
  • hypertelorism
  • low-set ears
  • underdeveloped nasal alae
  • anteverted nares
  • strabismus
  • telecanthus
  • microphthalmos
  • upslanted palpebral fissure
  • nystagmus
  • conical tooth
  • intellectual disability, mild
  • agenesis of corpus callosum
  • skull defect
  • intrauterine growth retardation
  • oligohydramnios
  • alopecia
  • frontal bossing
  • encephalocele
  • fine hair
  • agenesis of cerebellar vermis
  • intellectual disability, moderate
  • coronal craniosynostosis
  • depressed nasal bridge
  • bifid nose

HPO human phenotypes related to Frontonasal Dysplasia 2:

(show all 44)
id Description Frequency HPO Source Accession
1 cryptorchidism hallmark (90%) HP:0000028
2 abnormality of the philtrum hallmark (90%) HP:0000288
3 hypertelorism hallmark (90%) HP:0000316
4 anteverted nares hallmark (90%) HP:0000463
5 strabismus hallmark (90%) HP:0000486
6 telecanthus hallmark (90%) HP:0000506
7 blepharophimosis hallmark (90%) HP:0000581
8 nystagmus hallmark (90%) HP:0000639
9 calvarial skull defect hallmark (90%) HP:0001362
10 alopecia hallmark (90%) HP:0001596
11 encephalocele hallmark (90%) HP:0002084
12 midline defect of the nose hallmark (90%) HP:0004122
13 depressed nasal bridge hallmark (90%) HP:0005280
14 aplasia/hypoplasia involving the nose hallmark (90%) HP:0009924
15 cognitive impairment hallmark (90%) HP:0100543
16 scrotal hypoplasia typical (50%) HP:0000046
17 low-set, posteriorly rotated ears typical (50%) HP:0000368
18 intrauterine growth retardation typical (50%) HP:0001511
19 oligohydramnios typical (50%) HP:0001562
20 frontal bossing typical (50%) HP:0002007
21 fine hair typical (50%) HP:0002213
22 abnormality of dental morphology typical (50%) HP:0006482
23 aplasia/hypoplasia of the cerebellum typical (50%) HP:0007360
24 aplasia/hypoplasia of the corpus callosum typical (50%) HP:0007370
25 aplasia/hypoplasia affecting the eye typical (50%) HP:0008056
26 decreased lacrimation rare (5%) HP:0000633
27 hypohidrosis rare (5%) HP:0000966
28 intellectual disability rare (5%) HP:0001249
29 alopecia rare (5%) HP:0001596
30 microcephaly HP:0000252
31 hypertelorism HP:0000316
32 wide nasal bridge HP:0000431
33 bifid nasal tip HP:0000456
34 depressed nasal ridge HP:0000457
35 sparse and thin eyebrow HP:0000535
36 upslanted palpebral fissure HP:0000582
37 sparse eyelashes HP:0000653
38 cerebellar vermis hypoplasia HP:0001320
39 craniosynostosis HP:0001363
40 hypoplasia of the corpus callosum HP:0002079
41 encephalocele HP:0002084
42 parietal foramina HP:0002697
43 depressed nasal bridge HP:0005280
44 short palpebral fissure HP:0012745

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 225 23 ALX4

Anatomical Context for Frontonasal Dysplasia 2

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MalaCards organs/tissues related to Frontonasal Dysplasia 2:

34
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)single nucleotide variantPathogenicrs587777701GRCh38Chr 11, 44275452: 44275452
2ALX4NM_021926.3(ALX4): c.503delC (p.Pro168Leufs)deletionPathogenicrs876657391GRCh37Chr 11, 44297172: 44297172
3ALX4NM_021926.3(ALX4): c.291delG (p.Gln98Serfs)deletionPathogenicrs869320717GRCh38Chr 11, 44309772: 44309772
4ALX4NM_021926.3(ALX4): c.793C> T (p.Arg265Ter)single nucleotide variantPathogenicrs267606653GRCh37Chr 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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Biological processes related to Frontonasal Dysplasia 2 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1embryonic forelimb morphogenesisGO:00351159.5ALX4, MSX2
2embryonic digit morphogenesisGO:00427339.5ALX4, MSX2
3embryonic hindlimb morphogenesisGO:00351169.4ALX4, MSX2
4anterior/posterior pattern specificationGO:00099529.3ALX4, MSX2
5regulation of apoptotic processGO:00429819.2ALX4, MSX2
6transcription from RNA polymerase II promoterGO:00063669.1ALX4, MSX2

Molecular functions related to Frontonasal Dysplasia 2 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II regulatory region sequence-specific DNA bindingGO:00009779.1ALX4, MSX2
2sequence-specific DNA bindingGO:00435659.1ALX4, MSX2

Sources for Frontonasal Dysplasia 2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet