AGOTC
MCID: AGN012
MIFTS: 52

Agnathia-Otocephaly Complex (AGOTC)

Categories: Bone diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Agnathia-Otocephaly Complex

MalaCards integrated aliases for Agnathia-Otocephaly Complex:

Name: Agnathia-Otocephaly Complex 56 12 73 36 13 15
Otocephaly 56 12 73 43 71
Dysgnathia Complex Agnathia-Holoprosencephaly 56 12 73
Holoprosencephaly-Agnathia 56 12 73
Agnathia-Holoprosencephaly-Situs Inversus Syndrome 12 58
Agotc 56 73
Dysgnathia Complex 71
Jaw Abnormalities 43

Characteristics:

Orphanet epidemiological data:

58
agnathia-holoprosencephaly-situs inversus syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Antenatal,Neonatal; Age of death: infantile;

OMIM:

56
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
variable phenotype
de novo mutation in most cases
autosomal recessive inheritance has been reported in 1 case
usually lethal in the neonatal period
incidence is less than 1 in 70,000 births


HPO:

31
agnathia-otocephaly complex:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Agnathia-Otocephaly Complex

KEGG : 36 Otocephaly, also referred to as agnathia-otocephaly complex, is an extremely rare lethal anomalad characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. The etiologic causes of otocephaly can be distinctly classified as a consequence of genetic and teratogenic factors. Recently, molecular genetic studies led to the identification of a loss of function genetic mutation in the PRRX1 gene. Teratogenic factors include smoking, alcohol usage, or even an exposure to radiation can increase the risk. In addition, other chemicals/drugs like streptonigrin antibiotics, trypan blue, theophylline, beclomethasone, salicylates, amidopyrine, mycophenolate, and phenytoin may increase the risk among pregnancies.

MalaCards based summary : Agnathia-Otocephaly Complex, also known as otocephaly, is related to dysgnathia complex and alobar holoprosencephaly, and has symptoms including respiratory distress An important gene associated with Agnathia-Otocephaly Complex is PRRX1 (Paired Related Homeobox 1), and among its related pathways/superpathways are Dopaminergic Neurogenesis and Tgif disruption of Shh signaling. The drugs Chlorhexidine gluconate and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and trachea, and related phenotypes are agenesis of corpus callosum and polyhydramnios

Disease Ontology : 12 A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported.

OMIM : 56 Agnathia-otocephaly is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal (review by Faye-Petersen et al., 2006). (202650)

UniProtKB/Swiss-Prot : 73 Agnathia-otocephaly complex: A rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal.

Wikipedia : 74 Otocephaly is a very rare and lethal cephalic disorder characterized by the absence of the mandible... more...

Related Diseases for Agnathia-Otocephaly Complex

Diseases related to Agnathia-Otocephaly Complex via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 dysgnathia complex 33.5 PRRX1 OTX2
2 alobar holoprosencephaly 30.5 SHH FGF8
3 holoprosencephaly 30.4 SHH PRRX1 OTX2 FGF8 CHRD
4 cleft palate, isolated 29.7 SHH FGF8 DLX6 DLX5
5 cerebrocostomandibular syndrome 10.9
6 palatopharyngeal incompetence 10.4
7 microphthalmia, syndromic 5 10.4
8 polyhydramnios 10.4
9 agnathia-microstomia-synotia 10.4
10 hypoglossia/aglossia 10.4
11 melanotic medulloblastoma 10.4 SHH OTX2
12 medullomyoblastoma 10.4 SHH OTX2
13 nodular medulloblastoma 10.4 SHH OTX2
14 isolated split hand-split foot malformation 10.4 DLX6 DLX5
15 split-hand/foot malformation 5 10.4 DLX6 DLX5
16 split-hand/foot malformation 2 10.4 DLX6 DLX5
17 split-hand/foot malformation 3 10.4 DLX6 DLX5
18 anencephaly 10.3
19 situs inversus 10.3
20 split-hand/foot malformation 6 10.3 DLX6 DLX5
21 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 10.3 DLX6 DLX5
22 split-hand/foot malformation 4 10.3 DLX6 DLX5
23 tooth size 10.2 SHH FGF8
24 fryns microphthalmia syndrome 10.2
25 microphthalmia 10.2
26 midline interhemispheric variant of holoprosencephaly 10.2 SHH FGF8
27 septopreoptic holoprosencephaly 10.2 SHH FGF8
28 holoprosencephaly 1 10.2 SHH FGF8
29 rapp-hodgkin syndrome 10.2 DLX6 DLX5
30 tarsal-carpal coalition syndrome 10.2 NKX3-2 CHRD
31 lobar holoprosencephaly 10.1 SHH FGF8
32 septooptic dysplasia 10.1 SHH OTX2 FGF8
33 myelomeningocele 10.1
34 male infertility 10.1
35 infertility 10.1
36 cerebellar hypoplasia 10.1
37 dextrocardia with situs inversus 10.1
38 exencephaly 10.1
39 charge syndrome 10.1 SHH OTX2 FGF8
40 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive 10.1 FGF8 DLX6 DLX5
41 microform holoprosencephaly 10.1 SHH FGF8
42 syngnathia 10.0 NKX3-2 FGF8 DLX6
43 holoprosencephaly 11 10.0 SHH FGF8
44 bone development disease 10.0 SHH FGF8 DLX5
45 holoprosencephaly 4 10.0 SHH FGF8 CHRD
46 coloboma of macula 9.9 SHH OTX2 OTX1 FGF8
47 semilobar holoprosencephaly 9.9 SHH FGF8
48 hypotonia-cystinuria syndrome 9.9 TEX30 AADACL4 AADACL2
49 ankyloblepharon-ectodermal defects-cleft lip/palate 9.9 DLX6 DLX5
50 chromosome 2q35 duplication syndrome 9.9 SHH FGF8 DLX6 DLX5

Graphical network of the top 20 diseases related to Agnathia-Otocephaly Complex:



Diseases related to Agnathia-Otocephaly Complex

Symptoms & Phenotypes for Agnathia-Otocephaly Complex

Human phenotypes related to Agnathia-Otocephaly Complex:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 58 31 hallmark (90%) Very frequent (99-80%) HP:0001274
2 polyhydramnios 58 31 hallmark (90%) Very frequent (99-80%) HP:0001561
3 respiratory distress 58 31 hallmark (90%) Very frequent (99-80%) HP:0002098
4 narrow mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000160
5 aplasia/hypoplasia of the cerebellum 58 31 hallmark (90%) Very frequent (99-80%) HP:0007360
6 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
7 abnormal cranial nerve morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001291
8 holoprosencephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001360
9 hypoplasia of penis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008736
10 aplasia/hypoplasia of the eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0100840
11 narrow internal auditory canal 58 31 hallmark (90%) Very frequent (99-80%) HP:0011386
12 situs inversus totalis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001696
13 cyclopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0009914
14 aplasia/hypoplasia involving the nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0009924
15 absent nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0100596
16 microglossia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000171
17 mandibular aplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0009939
18 synotia 58 31 hallmark (90%) Very frequent (99-80%) HP:0100663
19 abnormality of the eye 58 31 Very frequent (99-80%) HP:0000478
20 micrognathia 31 HP:0000347
21 downslanted palpebral fissures 31 HP:0000494
22 cleft palate 31 HP:0000175
23 conductive hearing impairment 31 HP:0000405
24 tracheomalacia 31 HP:0002779
25 laryngeal hypoplasia 31 HP:0008749
26 abnormality of the outer ear 31 HP:0000356
27 hypoplasia of the epiglottis 31 HP:0005349
28 aglossia 31 HP:0012730

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Mouth:
cleft palate
microglossia
aglossia
microstomia
hypoplastic oropharynx

Respiratory Airways:
tracheomalacia
blind-ended trachea

Head And Neck Eyes:
downslanting palpebral fissures
synophthalmia

Respiratory Larynx:
hypoplastic epiglottis
hypoplastic larynx
trachea-oropharynx connection agenesis

Head And Neck Nose:
frontal proboscis

Neurologic Central Nervous System:
holoprosencephaly (variable)
agenesis of the corpus callosum (variable)

Respiratory:
respiratory distress

Head And Neck Ears:
synotia
hearing loss, conductive
ear anomalies

Head And Neck Face:
mandibular hypoplasia
mandibular agenesis
agnathia

Head And Neck Head:
otocephaly

Abdomen:
situs inversus (variable)

Clinical features from OMIM:

202650

UMLS symptoms related to Agnathia-Otocephaly Complex:


respiratory distress

MGI Mouse Phenotypes related to Agnathia-Otocephaly Complex:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.25 CHRD DDHD1 DLX5 DLX6 FGF8 NKX3-2
2 craniofacial MP:0005382 10.24 CHRD DLX5 DLX6 FGF8 NKX3-2 OTX1
3 digestive/alimentary MP:0005381 10.22 CHRD DLX5 DLX6 FGF8 NKX3-2 OTX1
4 embryo MP:0005380 10.2 CHRD DLX5 DLX6 FGF8 NKX3-2 OTX1
5 hearing/vestibular/ear MP:0005377 10.14 CHRD DLX5 DLX6 FGF8 NKX3-2 OTX1
6 nervous system MP:0003631 10.06 CHRD DLX5 DLX6 FGF8 NKX3-2 OTX1
7 respiratory system MP:0005388 9.96 CHRD DLX5 DLX6 FGF8 NKX3-2 OTX2
8 skeleton MP:0005390 9.93 CHRD DDHD1 DLX5 DLX6 FGF8 NKX3-2
9 limbs/digits/tail MP:0005371 9.91 DLX5 DLX6 FGF8 NKX3-2 PRRX1 PRRX2
10 taste/olfaction MP:0005394 9.26 CHRD DLX5 OTX2 SHH
11 vision/eye MP:0005391 9.23 CHRD FGF8 OTX1 OTX2 PGAP1 PRRX1

Drugs & Therapeutics for Agnathia-Otocephaly Complex

Drugs for Agnathia-Otocephaly Complex (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Chlorhexidine gluconate
2 Anesthetics
3 Pharmaceutical Solutions
4 Anticoagulants

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Role of a Written Summary on Risk Recall During Consent Process for Cleft Palate Repair Unknown status NCT02595307
2 Transoral Versus Transbuccal Placement of Bicortical Screws During Orthognathic Surgery Completed NCT02658305
3 Evaluation of "Tent-Pole" Grafting Technique for Reconstruction of Mandibular Ridge Vertical Defects (Clinical and Radiographic Study) Completed NCT04192851
4 A Randomized Controlled Trial of the Accuracy of Maxillary Repositioning Using Personalized Titanium Plates vs CAD/CAM Surgical Splints in Orthognathic Surgery Completed NCT02914431
5 Prospective Registry of 3-dimensional Virtual Treatment Planning of Orthognathic Surgery Recruiting NCT02660021
6 Application of Virtual Mandibular Position in Temporomandibular Jont Reconstruction With Costochondral Graft in Children Jaw Deformity. Recruiting NCT03845088
7 First-In-Man Performance and Safety Evaluation of the CARLO® Device in Midface Osteotomies Recruiting NCT03901209
8 A Modified Minimally Invasive Approach Towards Le Fort I Osteotomy: a Prospective Study Active, not recruiting NCT02660216

Search NIH Clinical Center for Agnathia-Otocephaly Complex

Cochrane evidence based reviews: jaw abnormalities

Genetic Tests for Agnathia-Otocephaly Complex

Anatomical Context for Agnathia-Otocephaly Complex

MalaCards organs/tissues related to Agnathia-Otocephaly Complex:

40
Bone, Eye, Trachea, Cerebellum, Brain, Pituitary

Publications for Agnathia-Otocephaly Complex

Articles related to Agnathia-Otocephaly Complex:

(show top 50) (show all 90)
# Title Authors PMID Year
1
Recurrent agnathia-otocephaly caused by DNA replication slippage in PRRX1. 61 56 6
23444262 2013
2
Prenatal diagnosis and identification of heterozygous frameshift mutation in PRRX1 in an infant with agnathia-otocephaly. 61 56 6
22674740 2012
3
PRRX1 is mutated in a fetus with agnathia-otocephaly. 61 56 6
21294718 2011
4
Agnathia-otocephaly complex: report of three cases with involvement of two different Carnegie stages. 61 56 6
12244557 2002
5
PRRX1 is mutated in an otocephalic newborn infant conceived by consanguineous parents. 56 6
22211708 2012
6
Current perspectives on the etiology of agnathia-otocephaly. 61 56
20849990 2010
7
Otocephaly: report of five new cases and a literature review. 61 56
17438667 2006
8
Otocephaly, and pulmonary malformation association: two case reports. 61 56
16970034 2006
9
Genetic and developmental studies of a new mouse mutation that produces otocephaly. 61 56
4019727 1985
10
On the Genetics of Subnormal Development of the Head (Otocephaly) in the Guinea Pig. 61 56
17246734 1934
11
Auriculo-condylar syndrome: additional patients. 56
12244558 2002
12
Holoprosencephaly Overview 6
20301702 2000
13
Transmission of the dysgnathia complex from mother to daughter. 56
11102934 2000
14
Agnathia-holoprosencephaly-situs inversus. 56
10756350 2000
15
Functional equivalency between Otx2 and Otx1 in development of the rostral head. 56
9895322 1999
16
The paired-like homeo box gene MHox is required for early events of skeletogenesis in multiple lineages. 56
7758948 1995
17
Familial agnathia-holoprosencephaly caused by an inherited unbalanced translocation and not autosomal recessive inheritance. 56
2817007 1989
18
Familial agnathia-holoprosencephaly. 56
6846401 1983
19
A de novo variant in OTX2 in a lamb with otocephaly. 61
31969185 2020
20
Prenatal ultrasound findings of holoprosencephaly spectrum: Unusual associations. 61
31955448 2020
21
Surgical Approach in a Patient With Agnathia-Otocephaly Complex: Three-Stage Mandibular Distraction Protocol. 61
31634311 2020
22
The location of the fetal ears: A hint for prenatal diagnosis of agnathia-otocephaly complex. 61
30756395 2019
23
External and computed tomography analysis of a strophocephalic lamb. 61
30853367 2019
24
First-Trimester Diagnosis of Agnathia-Otocephaly Complex: A Series of 4 Cases and Review of the Literature. 61
30171631 2019
25
Cyclopia: isolated and with agnathia-otocephaly complex. 61
28855214 2017
26
A novel mutation of orthodenticle homeobox 2 contributing to a case of otocephaly initially diagnosed by prenatal ultrasound in the first trimester. 61
27442045 2017
27
Prenatal diagnosis and physical model reconstruction of agnathia-otocephaly with limb deformities (absent ulna, fibula and digits) following maternal exposure to oxymetazoline in the first trimester. 61
27087030 2016
28
Otocephaly Complex: Case Report, Literature Review, and Ethical Considerations. 61
27258179 2016
29
Prenatal Diagnosis of Isolated Agnathia-Otocephaly: A Case Report and Review of the Literature. 61
27579201 2016
30
Severe Agnathia-Otocephaly Complex: Surgical Management and Longitudinal Follow-up From Birth Through Adulthood. 61
26517463 2015
31
Otocephaly: Agnathia- Microstomia-Synotia Syndrome- A Rare Congenital Anomaly. 61
26500912 2015
32
[Agnathia-otocephaly: post-mortem study of 2 cases and review of literatures]. 61
26705046 2015
33
Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2. 61
25589041 2015
34
A mouse splice-site mutant and individuals with atypical chromosome 22q11.2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal development. 61
25565927 2014
35
Agnathia-otocephaly: prenatal diagnosis by two- and three-dimensional ultrasound and magnetic resonance imaging. Case report. 61
25463893 2014
36
The teratogenic effects of prenatal ethanol exposure are exacerbated by Sonic Hedgehog or GLI2 haploinsufficiency in the mouse. 61
24586787 2014
37
Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2. 61
24167467 2013
38
Prenatal diagnosis of agnathia-otocephaly using sonography and magnetic resonance imaging. 61
23887968 2013
39
Aprosencephaly with otocephaly in a lamb (Ovis aries). 61
22431914 2012
40
OTX2 mutations contribute to the otocephaly-dysgnathia complex. 61
22577225 2012
41
Agnathia-otocephaly complex: a case report and examination of the OTX2 and PRRX1 genes. 61
22198066 2012
42
[Prenatal diagnosis of isolated otocefalia. Usefulness of three-dimensional ultrasound]. 61
21966847 2011
43
Agnathia-otocephaly with holoprosencephaly on prenatal three-dimensional ultrasound. 61
21465602 2011
44
Otocephaly: Prenatal and postnatal imaging findings. 61
21977107 2011
45
Agnathia-synotia-microstomia (otocephaly): a case report in an African woman. 61
23457854 2010
46
Prenatal diagnosis and molecular genetic studies on a new case of agnathia-otocephaly. 61
20594144 2010
47
A case of otocephaly with anencephaly and meningomyelocele. 61
20964124 2010
48
Agnathia-otocephaly. 61
19283980 2008
49
Prenatal three-dimensional ultrasonography in a case of agnathia-otocephaly. 61
18840176 2008
50
Two cases of agnathia (otocephaly): with review of the role of fibroblast growth factor (FGF8) and bone morphogenetic protein (BMP4) in patterning of the first branchial arch. 61
18173302 2008

Variations for Agnathia-Otocephaly Complex

ClinVar genetic disease variations for Agnathia-Otocephaly Complex:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRRX1 NM_022716.4(PRRX1):c.338T>C (p.Phe113Ser)SNV Pathogenic 29825 rs387906667 1:170688963-170688963 1:170719822-170719822
2 PRRX1 NM_022716.4(PRRX1):c.691G>C (p.Ala231Pro)SNV Pathogenic 29826 1:170705280-170705280 1:170736139-170736139
3 PRRX1 NM_022716.4(PRRX1):c.269del (p.Lys90fs)deletion Pathogenic 50496 rs398122375 1:170688888-170688888 1:170719747-170719747
4 PRRX1 NM_022716.4(PRRX1):c.266_269dup (p.Arg92fs)duplication Pathogenic 50497 rs398122375 1:170688887-170688888 1:170719746-170719747
5 PRRX1 NM_022716.4(PRRX1):c.343C>T (p.Arg115Trp)SNV Uncertain significance 587496 rs756620309 1:170688968-170688968 1:170719827-170719827

UniProtKB/Swiss-Prot genetic disease variations for Agnathia-Otocephaly Complex:

73
# Symbol AA change Variation ID SNP ID
1 PRRX1 p.Phe113Ser VAR_066414 rs387906667

Expression for Agnathia-Otocephaly Complex

Search GEO for disease gene expression data for Agnathia-Otocephaly Complex.

Pathways for Agnathia-Otocephaly Complex

Pathways related to Agnathia-Otocephaly Complex according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.28 SHH OTX2 FGF8
2 9.91 SHH FGF8

GO Terms for Agnathia-Otocephaly Complex

Cellular components related to Agnathia-Otocephaly Complex according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.17 PRRX2 PRRX1 OTX2 OTX1 NKX3-2 DLX6

Biological processes related to Agnathia-Otocephaly Complex according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.15 SHH PRRX2 PRRX1 OTX2 OTX1 NKX3-2
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.1 SHH PRRX1 OTX2 OTX1 NKX3-2 DLX6
3 skeletal system development GO:0001501 9.8 NKX3-2 DLX6 DLX5 CHRD
4 determination of left/right symmetry GO:0007368 9.75 SHH NKX3-2 FGF8
5 midbrain development GO:0030901 9.65 SHH OTX2 OTX1
6 positive regulation of mesenchymal cell proliferation GO:0002053 9.63 SHH PRRX1 CHRD
7 thyroid gland development GO:0030878 9.62 SHH FGF8
8 forebrain development GO:0030900 9.62 SHH OTX2 OTX1 CHRD
9 embryonic pattern specification GO:0009880 9.61 SHH PGAP1
10 lung morphogenesis GO:0060425 9.61 SHH FGF8
11 dopaminergic neuron differentiation GO:0071542 9.61 SHH OTX2 FGF8
12 multicellular organism development GO:0007275 9.61 SHH PRRX2 PRRX1 OTX2 OTX1 FGF8
13 middle ear morphogenesis GO:0042474 9.6 PRRX1 NKX3-2
14 male genitalia development GO:0030539 9.59 SHH FGF8
15 branching involved in salivary gland morphogenesis GO:0060445 9.58 SHH FGF8
16 head development GO:0060322 9.58 PGAP1 DLX6 DLX5
17 catabolic process GO:0009056 9.57 AADACL4 AADACL2
18 roof of mouth development GO:0060021 9.56 SHH PRRX1 DLX6 DLX5
19 animal organ formation GO:0048645 9.54 SHH NKX3-2
20 anatomical structure formation involved in morphogenesis GO:0048646 9.54 SHH DLX6 DLX5
21 embryo development GO:0009790 9.52 DLX6 DLX5
22 forebrain regionalization GO:0021871 9.51 SHH PGAP1
23 embryonic limb morphogenesis GO:0030326 9.46 SHH PRRX1 DLX6 DLX5
24 inner ear morphogenesis GO:0042472 9.02 PRRX1 OTX1 FGF8 DLX6 DLX5

Molecular functions related to Agnathia-Otocephaly Complex according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.95 TEX30 SHH PGAP1 MPPE1 DDHD1 AADACL4
2 DNA-binding transcription factor activity GO:0003700 9.8 PRRX2 OTX2 OTX1 NKX3-2 DLX6 DLX5
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.7 PRRX2 PRRX1 OTX2 OTX1 NKX3-2 DLX6
4 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.43 PRRX1 OTX2 OTX1 NKX3-2 DLX6 DLX5
5 HMG box domain binding GO:0071837 9.37 PRRX1 DLX5
6 short-chain carboxylesterase activity GO:0034338 9.26 AADACL4 AADACL2
7 sequence-specific DNA binding GO:0043565 9.17 PRRX2 PRRX1 OTX2 OTX1 NKX3-2 DLX6

Sources for Agnathia-Otocephaly Complex

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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