FND1
MCID: FRN036
MIFTS: 32

Frontonasal Dysplasia 1 (FND1) malady

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

Aliases & Classifications for Frontonasal Dysplasia 1

Aliases & Descriptions for Frontonasal Dysplasia 1:

Name: Frontonasal Dysplasia 1 54 50 24 66 29 13
Frontorhiny 50 24 25 56 66
Frontonasal Dysplasia 50 25 66 69
Median Facial Cleft Syndrome 50 24 25
Frontonasal Malformation 24 25 66
Fnd1 50 24 66
Isolated Median Cleft Face Syndrome 50 56
Alx3-Related Frontonasal Dysplasia 50 56
Frontonasal Dysplasia Sequence 25 69
Median Cleft Syndrome 50 66
Fnd 25 66
Fnm 25 66
Isolated Median Cleft Syndrome 50
Median Cleft Face Syndrome 50

Characteristics:

Orphanet epidemiological data:

56
frontorhiny
Inheritance: Autosomal recessive; Age of onset: Neonatal;

HPO:

32
frontonasal dysplasia 1:
Inheritance autosomal recessive inheritance sporadic


Classifications:



External Ids:

OMIM 54 136760
Orphanet 56 ORPHA391474
ICD10 via Orphanet 34 Q75.8
MedGen 40 C1876203
MeSH 42 D000013

Summaries for Frontonasal Dysplasia 1

NIH Rare Diseases : 50 frontonasal dysplasia is a rare condition that results from abnormal development of the head and face before birth. individuals with this condition have at least two of the following physical features:   widely spaced eyes (ocular hypertelorism);   a flat, broad nose; a slit (cleft) in one or both sides of the nose, causing it to separate into two parts; the tip of the nose may be missing; a central cleft involving the nose, upper lip, or roof of the mouth (cleft lip and/or palate); an abnormal skin-covered gap in the front of the skull where bone should be (anterior cranum bifidum occultum); or  widow's peak hairline.  other features may include other eye abnormalities (coloboma, cataract, microphthalmia), hearing loss, and/or agenesis of the corpus callosum. some individuals may have intellectual disability. there are at least three types of frontonasal dysplasia that are distinguished by their genetic causes and their signs and symptoms.  mutations in the alx3 gene cause frontonasal dysplasia type 1. mutations in the alx4 gene cause type 2. type 3 is caused by mutations in the alx1 gene. when frontonasal dysplasia is caused by mutations in the axl1 or axl3 gene, it is inherited in an autosomal recessive fashion. mutations in the axl4 gene are inherited in an autosomal dominant fashion. treatment of the condition depends on the severity of the signs and symptoms and may include one or more surgical procedures as well as special social, educational and medical services. last updated: 8/16/2016

MalaCards based summary : Frontonasal Dysplasia 1, also known as frontorhiny, is related to frontonasal dysplasia 2 and frontonasal dysplasia 3, and has symptoms including hypertelorism, low-set ears and agenesis of corpus callosum. An important gene associated with Frontonasal Dysplasia 1 is ALX3 (ALX Homeobox 3). Affiliated tissues include eye, bone and skin.

Genetics Home Reference : 25 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.

OMIM : 54 The term frontonasal dysplasia was coined by Sedano et al. (1970) to describe a constellation of findings limited to... (136760) more...

UniProtKB/Swiss-Prot : 66 Frontonasal dysplasia 1: 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.

Wikipedia : 71 Frontonasal dysplasia (FND) is a congenital malformation of the midface. For the diagnosis of FND, a... more...

Related Diseases for Frontonasal Dysplasia 1

Diseases in the Frontonasal Dysplasia 1 family:

Frontonasal Dysplasia 2 Frontonasal Dysplasia 3
Six2-Related Frontonasal Dysplasia

Diseases related to Frontonasal Dysplasia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
id Related Disease Score Top Affiliating Genes
1 frontonasal dysplasia 2 12.3
2 frontonasal dysplasia 3 12.3
3 frontonasal dysplasia with alar clefts 12.0
4 frontonasal dysplasia phocomelic upper limbs 12.0
5 frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome 11.9
6 frontonasal dysplasia with alopecia and genital anomaly 11.9
7 frontonasal dysplasia acromelic 11.8
8 frontonasal dysplasia klippel feil syndrome 11.8
9 six2-related frontonasal dysplasia 11.8
10 acromelic frontonasal dysostosis 11.7
11 bifid nose 11.2
12 craniofrontonasal dysplasia 11.2
13 sener syndrome 11.2
14 frontofacionasal dysplasia 10.9
15 parietal foramina 2 10.9
16 conversion disorder 10.8
17 encephalocele 10.0
18 lipoma 10.0
19 polydactyly 10.0
20 lymphoma 9.9
21 basal encephalocele 9.9
22 craniosynostosis 9.9
23 tetralogy of fallot 9.9
24 hydrocephalus 9.8
25 smith-lemli-opitz syndrome 9.8
26 rubinstein-taybi syndrome 9.8
27 follicular lymphoma 9.8
28 myeloid leukemia 9.8
29 leukemia 9.8
30 paraplegia 9.7
31 corpus callosum lipoma 9.7
32 ectopia cordis 9.7
33 neuronitis 9.7
34 renal hypoplasia 9.7
35 holoprosencephaly 9.7
36 acrofacial dysostosis 9.7
37 klippel-feil syndrome 9.7
38 microphthalmia 9.7
39 meningocele 9.7
40 meningoencephalocele 9.7
41 acrocallosal syndrome 9.7
42 pentalogy of cantrell 9.7
43 dysostosis 9.7
44 cerebritis 9.7
45 spasticity 9.7

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



Diseases related to Frontonasal Dysplasia 1

Symptoms & Phenotypes for Frontonasal Dysplasia 1

Symptoms by clinical synopsis from OMIM:

136760

Clinical features from OMIM:

136760

Human phenotypes related to Frontonasal Dysplasia 1:

32 (show all 49)
id Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 agenesis of corpus callosum 32 HP:0001274
4 clinodactyly 32 HP:0030084
5 hydrocephalus 32 HP:0000238
6 ptosis 32 HP:0000508
7 intellectual disability 32 HP:0001249
8 cataract 32 HP:0000518
9 wide nasal bridge 32 HP:0000431
10 short stature 32 HP:0004322
11 cleft palate 32 HP:0000175
12 epicanthus 32 HP:0000286
13 cryptorchidism 32 HP:0000028
14 webbed neck 32 HP:0000465
15 microphthalmia 32 HP:0000568
16 clinodactyly of the 5th finger 32 HP:0004209
17 hypoplasia of the maxilla 32 HP:0000327
18 low-set, posteriorly rotated ears 32 HP:0000368
19 conductive hearing impairment 32 HP:0000405
20 brachydactyly syndrome 32 HP:0001156
21 bilateral single transverse palmar creases 32 HP:0007598
22 broad nasal tip 32 HP:0000455
23 tetralogy of fallot 32 HP:0001636
24 choanal atresia 32 HP:0000453
25 flat occiput 32 HP:0005469
26 craniosynostosis 32 HP:0001363
27 holoprosencephaly 32 HP:0001360
28 preauricular skin tag 32 HP:0000384
29 camptodactyly of finger 32 HP:0100490
30 aplasia/hypoplasia of the corpus callosum 32 HP:0007370
31 postaxial hand polydactyly 32 HP:0001162
32 abnormality of cardiovascular system morphology 32 HP:0030680
33 median cleft lip 32 HP:0000161
34 short columella 32 HP:0002000
35 hypoplastic frontal sinuses 32 HP:0002738
36 coloboma 32 HP:0000589
37 radial deviation of finger 32 HP:0009466
38 camptodactyly 32 HP:0012385
39 widow's peak 32 HP:0000349
40 bifid nasal tip 32 HP:0000456
41 median cleft palate 32 HP:0009099
42 cranium bifidum occultum 32 HP:0004423
43 lipoma of corpus callosum 32 HP:0006931
44 joint contracture of the hand 32 HP:0009473
45 widely-spaced maxillary central incisors 32 HP:0001566
46 pectoral muscle hypoplasia/aplasia 32 HP:0005258
47 anterior basal encephalocele 32 HP:0006992
48 frontal cutaneous lipoma 32 HP:0007541
49 basal encephalocele 32 HP:0011817

Drugs & Therapeutics for Frontonasal Dysplasia 1

Search Clinical Trials , NIH Clinical Center for Frontonasal Dysplasia 1

Genetic Tests for Frontonasal Dysplasia 1

Genetic tests related to Frontonasal Dysplasia 1:

id Genetic test Affiliating Genes
1 Frontonasal Dysplasia 1 29 24 ALX3

Anatomical Context for Frontonasal Dysplasia 1

MalaCards organs/tissues related to Frontonasal Dysplasia 1:

39
Eye, Bone, Skin, Brain

Publications for Frontonasal Dysplasia 1

Variations for Frontonasal Dysplasia 1

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

66
id Symbol AA change Variation ID SNP ID
1 ALX3 p.Leu168Val VAR_063226 rs121908167
2 ALX3 p.Arg183Trp VAR_063227 rs121908168
3 ALX3 p.Arg196Trp VAR_063228 rs121908170
4 ALX3 p.Asn203Ser VAR_063229 rs121908166

ClinVar genetic disease variations for Frontonasal Dysplasia 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ALX3 ALX3, IVS2AS, A-T, -2 single nucleotide variant Pathogenic
2 ALX3 NM_006492.2(ALX3): c.608A> G (p.Asn203Ser) single nucleotide variant Pathogenic rs121908166 GRCh37 Chromosome 1, 110604172: 110604172
3 ALX3 NM_006492.2(ALX3): c.502C> G (p.Leu168Val) single nucleotide variant Pathogenic rs121908167 GRCh37 Chromosome 1, 110607301: 110607301
4 ALX3 NM_006492.2(ALX3): c.547C> T (p.Arg183Trp) single nucleotide variant Pathogenic rs121908168 GRCh37 Chromosome 1, 110607256: 110607256
5 ALX3 NM_006492.2(ALX3): c.543T> A (p.Tyr181Ter) single nucleotide variant Pathogenic rs121908169 GRCh37 Chromosome 1, 110607260: 110607260
6 ALX3 NM_006492.2(ALX3): c.578_581delCTGA (p.Thr193Argfs) deletion Pathogenic rs387906319 GRCh37 Chromosome 1, 110607222: 110607225
7 ALX3 NM_006492.2(ALX3): c.586C> T (p.Arg196Trp) single nucleotide variant Pathogenic rs121908170 GRCh37 Chromosome 1, 110607217: 110607217

Expression for Frontonasal Dysplasia 1

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

Pathways for Frontonasal Dysplasia 1

GO Terms for Frontonasal Dysplasia 1

Sources for Frontonasal Dysplasia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
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28 GO
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60 QIAGEN
65 SNOMED-CT via Orphanet
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68 Tocris
69 UMLS
70 UMLS via Orphanet
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