MCID: FRN033
MIFTS: 21

Frontonasal Dysplasia 2 malady

Genetic diseases, Bone diseases, Skin diseases, Fetal diseases, Rare diseases categories

Summaries for Frontonasal Dysplasia 2

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48OMIM, 34MalaCards
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MalaCards: Frontonasal Dysplasia 2, is also known as craniofrontonasal dysplasia with alopecia and hypogonadism, and has symptoms including frontal bossing/prominent forehead, anophthalmos/anophthalmia/microphthalmos/microphthalmia and tooth shape anomaly. An important gene associated with Frontonasal Dysplasia 2 is ALX4 (ALX homeobox 4). Affiliated tissues include testes, skin and cerebellum.

Description from OMIM:48 613451

Aliases & Classifications for Frontonasal Dysplasia 2

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Sources:
48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
craniofrontonasal dysplasia with alopecia and hypogonadism:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

frontonasal dysplasia 2 48 63
craniofrontonasal dysplasia with alopecia and hypogonadism 50
frontonasal dysplasia with alopecia and genital abnomality 50
frontonasal dysplasia with alopecia and genital anomaly 50
alx4-related fndag 50


External Ids:

OMIM48 613451
ICD10 via Orphanet27 Q87.0

Related Diseases for Frontonasal Dysplasia 2

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Diseases in the Frontonasal Dysplasia family:

Frontonasal Dysplasia 1 frontonasal dysplasia 2
Frontonasal Dysplasia 3

Symptoms for Frontonasal Dysplasia 2

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48OMIM, 50Orphanet
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Clinical features from OMIM:

613451

Symptoms:

50 (show all 29)
  • frontal bossing/prominent forehead
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • tooth shape anomaly
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • low set ears/posteriorly rotated ears
  • fine hair
  • hypoplastic scrotum/hemiscrotum/scrotal ridges
  • corpus callosum/septum pellucidum total/partial agenesis
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • oligoamnios
  • intrauterine growth retardation
  • autosomal recessive inheritance
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • late puberty/hypogonadism/hypogenitalism
  • scalp/skull defect
  • bifid skull
  • hypertelorism
  • strabismus/squint
  • nystagmus
  • blepharophimosis/short palpebral fissures
  • telecanthus/canthal dystopy
  • nasal atrophy/hypoplasia/arhinia/rudimentary nose
  • bifid tip/cleft nose/supernumerary nose
  • depressed nasal bridge
  • anteverted nares/nostrils
  • philtrum flat/large/featureless/absent cupidon bows
  • alopecia
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • brachycephaly/flat occiput

Drugs & Therapeutics for Frontonasal Dysplasia 2

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Frontonasal Dysplasia 2

Drug clinical trials:

Search ClinicalTrials for Frontonasal Dysplasia 2

Search NIH Clinical Center for Frontonasal Dysplasia 2

Search CenterWatch for Frontonasal Dysplasia 2

Genetic Tests for Frontonasal Dysplasia 2

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Anatomical Context for Frontonasal Dysplasia 2

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34MalaCards
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MalaCards organs/tissues related to Frontonasal Dysplasia 2:

34
Testes, Skin, Cerebellum, Bone

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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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Frontonasal Dysplasia 2:

1
id Gene Name 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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Frontonasal Dysplasia 2

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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Products for genes affiliated with Frontonasal Dysplasia 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Frontonasal Dysplasia 2

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet