MCID: FRN033
MIFTS: 15

Frontonasal Dysplasia 2 malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Bone diseases, Endocrine diseases, Fetal diseases, Blood diseases categories

Aliases & Classifications for Frontonasal Dysplasia 2

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Aliases & Descriptions for Frontonasal Dysplasia 2:

Name: Frontonasal Dysplasia 2 46 9 22 61


Classifications:



External Ids:

OMIM46 613451

Summaries for Frontonasal Dysplasia 2

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MalaCards based summary: Frontonasal Dysplasia 2 and has symptoms including intellectual disability, alopecia and hypertelorism. An important gene associated with Frontonasal Dysplasia 2 is ALX4 (ALX homeobox 4).

Description from OMIM:46 613451

Related Diseases for Frontonasal Dysplasia 2

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Diseases in the Frontonasal Dysplasia 1 family:

frontonasal dysplasia 2 Frontonasal Dysplasia 3

Symptoms for Frontonasal Dysplasia 2

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Symptoms by clinical synopsis from OMIM:

613451

Clinical features from OMIM:

613451

HPO human phenotypes related to Frontonasal Dysplasia 2:

(show all 13)
id Description Frequency HPO Source Accession
1 intellectual disability rare (5%) HP:0001249
2 alopecia rare (5%) HP:0001596
3 hypertelorism HP:0000316
4 wide nasal bridge HP:0000431
5 bifid nasal tip HP:0000456
6 depressed nasal ridge HP:0000457
7 upslanted palpebral fissure HP:0000582
8 cerebellar vermis hypoplasia HP:0001320
9 craniosynostosis HP:0001363
10 hypoplasia of the corpus callosum HP:0002079
11 encephalocele HP:0002084
12 parietal foramina HP:0002697
13 depressed nasal bridge HP:0005280

Drugs & Therapeutics for Frontonasal Dysplasia 2

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Drug clinical trials:

Search ClinicalTrials for Frontonasal Dysplasia 2

Search 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 222

Anatomical Context for Frontonasal Dysplasia 2

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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.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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Compounds 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
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet