MCID: FRN036
MIFTS: 37

Frontonasal Dysplasia 1 malady

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

Aliases & Classifications for Frontonasal Dysplasia 1

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Frontonasal Dysplasia 1, Aliases & Descriptions:

Name: Frontonasal Dysplasia 1 45 10 20
Frontonasal Dysplasia 41 21 22 60
Frontorhiny 41 21 47
Autoimmune Enteropathy and Endocrinopathy-Susceptibility to Chronic Infections Syndrome 41 47
Frontonasal Dysplasia Sequence 21 60
Median Facial Cleft Syndrome 41 21
 
Alx3-Related Frontonasal Dysplasia 47
Isolated Median Cleft Syndrome 47
Frontonasal Malformation 21
Median Cleft Syndrome 41
Fnd 21
Fnm 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal


External Ids:

OMIM45 136760
Orphanet47 391474, 391487
ICD10 via Orphanet26 Q75.8

Summaries for Frontonasal Dysplasia 1

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OMIM:45 The term frontonasal dysplasia was coined by Sedano et al. (1970) to describe a constellation of findings limited to... (136760) more...

MalaCards based summary: Frontonasal Dysplasia 1, also known as frontonasal dysplasia, is related to acromelic frontonasal dysostosis and frontonasal dysplasia 2, and has symptoms including hypertelorism, median cleft lip and midline defect of the nose. An important gene associated with Frontonasal Dysplasia 1 is ALX3 (ALX homeobox 3). Affiliated tissues include skin, eye and bone, and related mouse phenotypes are limbs/digits/tail and digestive/alimentary.

NIH Rare Diseases:41 Frontonasal dysplasia is a very rare disorder that is characterized by abnormalities affecting the head and facial (craniofacial) region. major physical features may include widely spaced eyes (ocular hypertelorism); a flat, broad nose; and a widow's peak hairline. in some cases, the tip of the nose may be missing; in more severe cases, the nose may separate vertically into two parts. in addition, an abnormal skin-covered gap in the front of the head (anterior cranium occultum) may also be present in some cases. other features may include a cleft lip, other eye abnormalities (coloboma, cataract, microphthalmia), hearing loss, and/or agenesis of the corpus callosum. the majority of affected individuals have normal intelligence. the exact cause of frontonasal dysplasia is not known. most cases occur randomly, for no apparent reason (sporadically). however, some cases are thought to run in families. researchers have suggested that this condition is caused by mutations in the alx3 gene and is inherited in an autosomal recessive fashion. last updated: 1/9/2012

Genetics Home Reference:21 Frontonasal dysplasia is a condition that results from abnormal development of the head and face before birth. People with frontonasal dysplasia have at least two of the following features: widely spaced eyes (ocular hypertelorism); a broad nose; a slit (cleft) in one or both sides of the nose; no nasal tip; a central cleft involving the nose, upper lip, or roof of the mouth (palate); incomplete formation of the front of the skull with skin covering the head where bone should be (anterior cranium bifidum occultum); or a widow's peak hairline.

Related Diseases for Frontonasal Dysplasia 1

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Graphical network of the top 20 diseases related to Frontonasal Dysplasia 1:



Diseases related to frontonasal dysplasia 1

Symptoms for Frontonasal Dysplasia 1

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Symptoms by clinical synopsis from OMIM:

136760

Clinical features from OMIM:

136760

HPO human phenotypes related to Frontonasal Dysplasia 1:

(show all 55)
id Description Frequency HPO Source Accession
1 hypertelorism hallmark (90%) HP:0000316
2 median cleft lip typical (50%) HP:0000161
3 midline defect of the nose typical (50%) HP:0004122
4 cryptorchidism occasional (7.5%) HP:0000028
5 cleft palate occasional (7.5%) HP:0000175
6 hydrocephalus occasional (7.5%) HP:0000238
7 low-set, posteriorly rotated ears occasional (7.5%) HP:0000368
8 preauricular skin tag occasional (7.5%) HP:0000384
9 conductive hearing impairment occasional (7.5%) HP:0000405
10 choanal atresia occasional (7.5%) HP:0000453
11 webbed neck occasional (7.5%) HP:0000465
12 single transverse palmar crease occasional (7.5%) HP:0000954
13 holoprosencephaly occasional (7.5%) HP:0001360
14 craniosynostosis occasional (7.5%) HP:0001363
15 encephalocele occasional (7.5%) HP:0002084
16 malformation of the heart and great vessels occasional (7.5%) HP:0002564
17 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
18 short stature occasional (7.5%) HP:0004322
19 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
20 camptodactyly of finger occasional (7.5%) HP:0100490
21 cognitive impairment occasional (7.5%) HP:0100543
22 median cleft lip HP:0000161
23 epicanthus HP:0000286
24 hypertelorism HP:0000316
25 hypoplasia of the maxilla HP:0000327
26 widow's peak HP:0000349
27 low-set ears HP:0000369
28 preauricular skin tag HP:0000384
29 conductive hearing impairment HP:0000405
30 wide nasal bridge HP:0000431
31 broad nasal tip HP:0000455
32 bifid nasal tip HP:0000456
33 ptosis HP:0000508
34 cataract HP:0000518
35 microphthalmos HP:0000568
36 coloboma HP:0000589
37 brachydactyly syndrome HP:0001156
38 postaxial hand polydactyly HP:0001162
39 intellectual disability HP:0001249
40 agenesis of corpus callosum HP:0001274
41 widely-spaced maxillary central incisors HP:0001566
42 tetralogy of fallot HP:0001636
43 short columella HP:0002000
44 hypoplastic frontal sinuses HP:0002738
45 sporadic HP:0003745
46 cranium bifidum occultum HP:0004423
47 pectoral muscle hypoplasia/aplasia HP:0005258
48 lipoma of corpus callosum HP:0006931
49 anterior basal encephalocele HP:0006992
50 frontal cutaneous lipoma HP:0007541
51 median cleft palate HP:0009099
52 radial deviation of finger HP:0009466
53 joint contracture of the hand HP:0009473
54 camptodactyly HP:0012385
55 clinodactyly HP:0030084

Drugs & Therapeutics for Frontonasal Dysplasia 1

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Drug clinical trials:

Search ClinicalTrials for Frontonasal Dysplasia 1

Search NIH Clinical Center for Frontonasal Dysplasia 1

Genetic Tests for Frontonasal Dysplasia 1

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Genetic tests related to Frontonasal Dysplasia 1:

id Genetic test Affiliating Genes
1 Frontonasal Dysplasia 120 ALX3
2 Frontonasal Dysplasia22

Anatomical Context for Frontonasal Dysplasia 1

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MalaCards organs/tissues related to Frontonasal Dysplasia 1:

31
Skin, Eye, Bone, Heart

Animal Models for Frontonasal Dysplasia 1 or affiliated genes

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MGI Mouse Phenotypes related to Frontonasal Dysplasia 1:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.2ALX3, STAT1
2MP:00053819.1ALX3, STAT1
3MP:00053869.1ALX3, STAT1
4MP:00053919.0STAT1, ALX3
5MP:00053908.8ALX3, STAT1

Publications for Frontonasal Dysplasia 1

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Variations for Frontonasal Dysplasia 1

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UniProtKB/Swiss-Prot genetic disease variations for Frontonasal Dysplasia 1:

62
id Symbol AA change Variation ID SNP ID
1ALX3p.Leu168ValVAR_063226
2ALX3p.Arg183TrpVAR_063227
3ALX3p.Arg196TrpVAR_063228rs121908170
4ALX3p.Asn203SerVAR_063229

Clinvar genetic disease variations for Frontonasal Dysplasia 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1ALX3ALX3, IVS2, A-T, -2single nucleotide variantPathogenic
2ALX3NM_006492.2(ALX3): c.608A> G (p.Asn203Ser)single nucleotide variantPathogenicrs121908166GRCh37Chr 1, 110604172: 110604172
3ALX3NM_006492.2(ALX3): c.502C> G (p.Leu168Val)single nucleotide variantPathogenicrs121908167GRCh37Chr 1, 110607301: 110607301
4ALX3NM_006492.2(ALX3): c.547C> T (p.Arg183Trp)single nucleotide variantPathogenicrs121908168GRCh37Chr 1, 110607256: 110607256
5ALX3NM_006492.2(ALX3): c.543T> A (p.Tyr181Ter)single nucleotide variantPathogenicrs121908169GRCh37Chr 1, 110607260: 110607260
6ALX3NM_006492.2(ALX3): c.578_581delCTGA (p.Thr193Argfs)deletionPathogenicrs387906319GRCh37Chr 1, 110607222: 110607225
7ALX3NM_006492.2(ALX3): c.586C> T (p.Arg196Trp)single nucleotide variantPathogenicrs121908170GRCh37Chr 1, 110607217: 110607217

Expression for genes affiliated with Frontonasal Dysplasia 1

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Search GEO for disease gene expression data for Frontonasal Dysplasia 1.

Pathways for genes affiliated with Frontonasal Dysplasia 1

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Compounds for genes affiliated with Frontonasal Dysplasia 1

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GO Terms for genes affiliated with Frontonasal Dysplasia 1

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Biological processes related to Frontonasal Dysplasia 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1regulation of apoptotic processGO:00429819.1ALX3, STAT1

Molecular functions related to Frontonasal Dysplasia 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA binding transcription factor activityGO:00037009.1ALX3, STAT1

Products for genes affiliated with Frontonasal Dysplasia 1

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  • Antibodies
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Sources for Frontonasal Dysplasia 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet