AGOTC
MCID: AGN012
MIFTS: 54

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 57 12 74 37 13 15
Otocephaly 57 12 74 44 72
Dysgnathia Complex Agnathia-Holoprosencephaly 57 12 74
Holoprosencephaly-Agnathia 57 12 74
Agnathia-Holoprosencephaly-Situs Inversus Syndrome 12 59
Agotc 57 74
Dysgnathia Complex 72
Jaw Abnormalities 44

Characteristics:

Orphanet epidemiological data:

59
agnathia-holoprosencephaly-situs inversus syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Antenatal,Neonatal; Age of death: infantile;

OMIM:

57
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:

32
agnathia-otocephaly complex:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060341
OMIM 57 202650
KEGG 37 H02118
ICD10 33 Q18.2
ICD10 via Orphanet 34 Q87.8
Orphanet 59 ORPHA990
UMLS 72 C0265242 C1876185

Summaries for Agnathia-Otocephaly Complex

KEGG : 37
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 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 Pathways in cancer and Mesodermal Commitment Pathway. Affiliated tissues include eye, trachea and cerebellum, and related phenotypes are agenesis of corpus callosum and respiratory distress

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 : 57 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 : 74 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 : 75 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 51)
# Related Disease Score Top Affiliating Genes
1 dysgnathia complex 33.4 PRRX1 OTX2
2 holoprosencephaly 30.4 SHH GLI2 FGF8
3 alobar holoprosencephaly 29.9 SHH GLI2 FGF8
4 microphthalmia 29.4 SHH OTX2 GLI2 BMP4
5 cleft palate, isolated 28.9 MSX1 BMP4 ALX3
6 cerebrocostomandibular syndrome 10.9
7 palatopharyngeal incompetence 10.4
8 microphthalmia, syndromic 5 10.4
9 polyhydramnios 10.4
10 agnathia-microstomia-synotia 10.4
11 hypoglossia/aglossia 10.4
12 anencephaly 10.3
13 cerebral malformation 10.3
14 situs inversus 10.3
15 maxillonasal dysplasia, binder type 10.3 SHH ALX3
16 hemifacial microsomia 10.3 OTX2 ALX3
17 acromelic frontonasal dysostosis 10.3 SHH ALX3
18 fryns microphthalmia syndrome 10.2
19 combined pituitary hormone deficiencies, genetic forms 10.1 OTX2 GLI2
20 cerebellar hypoplasia 10.1
21 myelomeningocele 10.1
22 male infertility 10.1
23 infertility 10.1
24 microphthalmia/anophthalmia/coloboma spectrum 10.1
25 dextrocardia with situs inversus 10.1
26 exencephaly 10.1
27 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly 10.0 SHH MSX1
28 pallister-hall syndrome 9.9 SHH GLI2
29 infratentorial cancer 9.9 SHH OTX2 GLI2
30 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 9.8 SHH MSX1 GLI2
31 axenfeld-rieger syndrome, type 1 9.7 SHH FGF8 BMP4
32 midline interhemispheric variant of holoprosencephaly 9.7 SHH GLI2 FGF8
33 septopreoptic holoprosencephaly 9.7 SHH GLI2 FGF8
34 achondroplasia 9.7
35 endosteal hyperostosis, autosomal dominant 9.7
36 maxillofacial dysostosis 9.7
37 osteoporosis 9.7
38 bone mineral density quantitative trait locus 8 9.7
39 bone mineral density quantitative trait locus 15 9.7
40 dysostosis 9.7
41 cleft lip 9.7
42 hanhart syndrome 9.7
43 lobar holoprosencephaly 9.7 SHH GLI2 FGF8
44 microform holoprosencephaly 9.7 SHH GLI2 FGF8
45 syngnathia 9.7 MSX1 FGF8 BMP4
46 cleft palate with or without ankyloglossia, x-linked 9.7 MSX1 FGF8 BMP4
47 semilobar holoprosencephaly 9.7 SHH GLI2 FGF8
48 focal epithelial hyperplasia 9.6 SHH GLI2 FGF8
49 greig cephalopolysyndactyly syndrome 9.6 SHH GLI2
50 tooth size 9.4 SHH MSX1 FGF8 BMP4

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:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 59 32 hallmark (90%) Very frequent (99-80%) HP:0001274
2 respiratory distress 59 32 hallmark (90%) Very frequent (99-80%) HP:0002098
3 narrow mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000160
4 aplasia/hypoplasia of the cerebellum 59 32 hallmark (90%) Very frequent (99-80%) HP:0007360
5 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
6 polyhydramnios 59 32 hallmark (90%) Very frequent (99-80%) HP:0001561
7 holoprosencephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001360
8 hypoplasia of penis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008736
9 aplasia/hypoplasia of the eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0100840
10 narrow internal auditory canal 59 32 hallmark (90%) Very frequent (99-80%) HP:0011386
11 situs inversus totalis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001696
12 cyclopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0009914
13 aplasia/hypoplasia involving the nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0009924
14 absent nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0100596
15 microglossia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000171
16 mandibular aplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0009939
17 synotia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100663
18 abnormal cranial nerve morphology 32 hallmark (90%) HP:0001291
19 abnormality of the eye 59 32 Very frequent (99-80%) HP:0000478
20 cleft palate 32 HP:0000175
21 micrognathia 32 HP:0000347
22 abnormality of the cranial nerves 59 Very frequent (99-80%)
23 downslanted palpebral fissures 32 HP:0000494
24 conductive hearing impairment 32 HP:0000405
25 tracheomalacia 32 HP:0002779
26 laryngeal hypoplasia 32 HP:0008749
27 abnormality of the outer ear 32 HP:0000356
28 hypoplasia of the epiglottis 32 HP:0005349
29 aglossia 32 HP:0012730

Symptoms via clinical synopsis from OMIM:

57
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:

46 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.36 ALX3 BMP4 CRKL DCX FGF8 GLI2
2 embryo MP:0005380 10.35 ALX3 BMP4 CRKL FGF8 GLI2 HHAT
3 craniofacial MP:0005382 10.34 ALX3 BMP4 CRKL FGF8 GLI2 HHAT
4 behavior/neurological MP:0005386 10.32 ALX3 BMP4 DCX FGF8 GLI2 LBX1
5 digestive/alimentary MP:0005381 10.29 ALX3 BMP4 FGF8 GLI2 HHAT MSX1
6 mortality/aging MP:0010768 10.28 ALX3 BMP4 CRKL DCX FGF8 GLI2
7 endocrine/exocrine gland MP:0005379 10.26 ALX3 BMP4 CRKL FGF8 GLI2 HHAT
8 cardiovascular system MP:0005385 10.22 BMP4 CRKL FGF8 HHAT LBX1 MSX1
9 nervous system MP:0003631 10.21 ALX3 BMP4 CRKL DCX FGF8 GLI2
10 hearing/vestibular/ear MP:0005377 10.19 BMP4 CRKL FGF8 GLI2 MSX1 OTX1
11 homeostasis/metabolism MP:0005376 10.18 ALX3 BMP4 FGF8 GLI2 HHAT MSX1
12 limbs/digits/tail MP:0005371 10.16 ALX3 BMP4 CRKL FGF8 GLI2 HHAT
13 reproductive system MP:0005389 9.96 ALX3 BMP4 DCX FGF8 GLI2 HHAT
14 muscle MP:0005369 9.95 BMP4 FGF8 GLI2 LBX1 MSX1 OTX2
15 normal MP:0002873 9.87 BMP4 FGF8 GLI2 LBX1 MSX1 OTX2
16 respiratory system MP:0005388 9.85 ALX3 BMP4 FGF8 GLI2 HHAT MSX1
17 skeleton MP:0005390 9.73 ALX3 BMP4 CRKL FGF8 GLI2 HHAT
18 vision/eye MP:0005391 9.4 ALX3 BMP4 CRKL FGF8 GLI2 HHAT

Drugs & Therapeutics for Agnathia-Otocephaly Complex

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 Computational Modeling for Prediction of Acoustic Changes in Vowel Production Unknown status NCT01887977
3 TolTwiCare : Qualitative Evaluation Routine Care From Primary Tolerance of a Prefabricated and Removable Orthosis Completed NCT02907450
4 Transoral Versus Transbuccal Placement of Bicortical Screws During Orthognathic Surgery Completed NCT02658305
5 A Randomized Controlled Trial of the Accuracy of Maxillary Repositioning Using Personalized Titanium Plates vs CAD/CAM Surgical Splints in Orthognathic Surgery Completed NCT02914431
6 Prospective Registry of 3-dimensional Virtual Treatment Planning of Orthognathic Surgery Recruiting NCT02660021
7 Application of Virtual Mandibular Position in Temporomandibular Jont Reconstruction With Costochondral Graft in Children Jaw Deformity. Recruiting NCT03845088
8 First-In-Man Performance and Safety Evaluation of the CARLO® Device in Midface Osteotomies Recruiting NCT03901209
9 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:

41
Eye, Trachea, Cerebellum, Brain, Bone, Pituitary

Publications for Agnathia-Otocephaly Complex

Articles related to Agnathia-Otocephaly Complex:

(show top 50) (show all 87)
# Title Authors PMID Year
1
Recurrent agnathia-otocephaly caused by DNA replication slippage in PRRX1. 38 8 71
23444262 2013
2
Prenatal diagnosis and identification of heterozygous frameshift mutation in PRRX1 in an infant with agnathia-otocephaly. 38 8 71
22674740 2012
3
PRRX1 is mutated in a fetus with agnathia-otocephaly. 38 8 71
21294718 2011
4
Agnathia-otocephaly complex: report of three cases with involvement of two different Carnegie stages. 38 8 71
12244557 2002
5
PRRX1 is mutated in an otocephalic newborn infant conceived by consanguineous parents. 8 71
22211708 2012
6
Current perspectives on the etiology of agnathia-otocephaly. 38 8
20849990 2010
7
Otocephaly: report of five new cases and a literature review. 38 8
17438667 2006
8
Otocephaly, and pulmonary malformation association: two case reports. 38 8
16970034 2006
9
Genetic and developmental studies of a new mouse mutation that produces otocephaly. 38 8
4019727 1985
10
On the Genetics of Subnormal Development of the Head (Otocephaly) in the Guinea Pig. 38 8
17246734 1934
11
Auriculo-condylar syndrome: additional patients. 8
12244558 2002
12
Holoprosencephaly Overview 71
20301702 2000
13
Transmission of the dysgnathia complex from mother to daughter. 8
11102934 2000
14
Agnathia-holoprosencephaly-situs inversus. 8
10756350 2000
15
Functional equivalency between Otx2 and Otx1 in development of the rostral head. 8
9895322 1999
16
The paired-like homeo box gene MHox is required for early events of skeletogenesis in multiple lineages. 8
7758948 1995
17
Familial agnathia-holoprosencephaly caused by an inherited unbalanced translocation and not autosomal recessive inheritance. 8
2817007 1989
18
Familial agnathia-holoprosencephaly. 8
6846401 1983
19
The location of the fetal ears: A hint for prenatal diagnosis of agnathia-otocephaly complex. 38
30756395 2019
20
External and computed tomography analysis of a strophocephalic lamb. 38
30853367 2019
21
First-Trimester Diagnosis of Agnathia-Otocephaly Complex: A Series of 4 Cases and Review of the Literature. 38
30171631 2019
22
Cyclopia: isolated and with agnathia-otocephaly complex. 38
28855214 2017
23
A novel mutation of orthodenticle homeobox 2 contributing to a case of otocephaly initially diagnosed by prenatal ultrasound in the first trimester. 38
27442045 2017
24
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. 38
27087030 2016
25
Otocephaly Complex: Case Report, Literature Review, and Ethical Considerations. 38
27258179 2016
26
Prenatal Diagnosis of Isolated Agnathia-Otocephaly: A Case Report and Review of the Literature. 38
27579201 2016
27
Severe Agnathia-Otocephaly Complex: Surgical Management and Longitudinal Follow-up From Birth Through Adulthood. 38
26517463 2015
28
Otocephaly: Agnathia- Microstomia-Synotia Syndrome- A Rare Congenital Anomaly. 38
26500912 2015
29
[Agnathia-otocephaly: post-mortem study of 2 cases and review of literatures]. 38
26705046 2015
30
Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2. 38
25589041 2015
31
A mouse splice-site mutant and individuals with atypical chromosome 22q11.2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal development. 38
25565927 2014
32
Agnathia-otocephaly: prenatal diagnosis by two- and three-dimensional ultrasound and magnetic resonance imaging. Case report. 38
25463893 2014
33
The teratogenic effects of prenatal ethanol exposure are exacerbated by Sonic Hedgehog or GLI2 haploinsufficiency in the mouse. 38
24586787 2014
34
Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2. 38
24167467 2013
35
Prenatal diagnosis of agnathia-otocephaly using sonography and magnetic resonance imaging. 38
23887968 2013
36
Aprosencephaly with otocephaly in a lamb (Ovis aries). 38
22431914 2012
37
OTX2 mutations contribute to the otocephaly-dysgnathia complex. 38
22577225 2012
38
Agnathia-otocephaly complex: a case report and examination of the OTX2 and PRRX1 genes. 38
22198066 2012
39
[Prenatal diagnosis of isolated otocefalia. Usefulness of three-dimensional ultrasound]. 38
21966847 2011
40
Agnathia-otocephaly with holoprosencephaly on prenatal three-dimensional ultrasound. 38
21465602 2011
41
Otocephaly: Prenatal and postnatal imaging findings. 38
21977107 2011
42
Agnathia-synotia-microstomia (otocephaly): a case report in an African woman. 38
23457854 2010
43
Prenatal diagnosis and molecular genetic studies on a new case of agnathia-otocephaly. 38
20594144 2010
44
A case of otocephaly with anencephaly and meningomyelocele. 38
20964124 2010
45
Agnathia-otocephaly. 38
19283980 2008
46
Prenatal three-dimensional ultrasonography in a case of agnathia-otocephaly. 38
18840176 2008
47
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. 38
18173302 2008
48
Agnathia-otocephaly complex in a fetus with maternal use of topical 1% salicylate. 38
18049088 2008
49
PGAP1 knock-out mice show otocephaly and male infertility. 38
17711852 2007
50
A case of agnathia-otocephaly complex assessed prenatally for ex utero intrapartum treatment (EXIT) by three-dimensional ultrasonography. 38
17497748 2007

Variations for Agnathia-Otocephaly Complex

ClinVar genetic disease variations for Agnathia-Otocephaly Complex:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PRRX1 NM_006902.5(PRRX1): c.338T> C (p.Phe113Ser) single nucleotide variant Pathogenic rs387906667 1:170688963-170688963 1:170719822-170719822
2 PRRX1 PRRX1, ALA231PRO single nucleotide variant Pathogenic
3 PRRX1 NM_006902.5(PRRX1): c.266_269dup (p.Arg92fs) duplication Pathogenic rs398122375 1:170688891-170688894 1:170719750-170719753
4 PRRX1 NM_006902.5(PRRX1): c.269del (p.Lys90fs) deletion Pathogenic rs398122375 1:170688894-170688894 1:170719753-170719753
5 PRRX1 NM_006902.5(PRRX1): c.343C> T (p.Arg115Trp) single nucleotide variant Uncertain significance 1:170688968-170688968 1:170719827-170719827

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

74
# 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

GO Terms for Agnathia-Otocephaly Complex

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

(show top 50) (show all 84)
# Name GO ID Score Top Affiliating Genes
1 BMP signaling pathway GO:0030509 9.89 MSX1 FGF8 BMP4
2 cartilage development GO:0051216 9.89 PRRX1 MSX1 BMP4
3 kidney development GO:0001822 9.89 SHH GLI2 FGF8 BMP4
4 roof of mouth development GO:0060021 9.88 SHH PRRX1 MSX1
5 inner ear morphogenesis GO:0042472 9.88 PRRX1 OTX1 FGF8
6 cell fate commitment GO:0045165 9.88 SHH FGF8 BMP4
7 heart looping GO:0001947 9.87 SHH LBX1 FGF8
8 embryonic skeletal system morphogenesis GO:0048704 9.85 PRRX1 BMP4 ALX3
9 lung development GO:0030324 9.85 SHH GLI2 FGF8 BMP4
10 positive regulation of cell differentiation GO:0045597 9.83 SHH FGF8 BMP4
11 smoothened signaling pathway GO:0007224 9.83 SHH HHAT GLI2 BMP4
12 branching involved in ureteric bud morphogenesis GO:0001658 9.82 SHH FGF8 BMP4
13 metanephros development GO:0001656 9.81 SHH FGF8 BMP4
14 embryonic cranial skeleton morphogenesis GO:0048701 9.81 PRRX1 BMP4 ALX3
15 pattern specification process GO:0007389 9.81 SHH GLI2 CRKL ALX3
16 protein localization to nucleus GO:0034504 9.8 SHH MSX1 BMP4
17 embryonic forelimb morphogenesis GO:0035115 9.79 SHH MSX1 ALX3
18 pituitary gland development GO:0021983 9.79 MSX1 GLI2 BMP4
19 neuron fate commitment GO:0048663 9.78 SHH LBX1 BMP4
20 odontogenesis of dentin-containing tooth GO:0042475 9.78 SHH MSX1 GLI2 BMP4
21 branching morphogenesis of an epithelial tube GO:0048754 9.77 SHH GLI2 BMP4
22 positive regulation of BMP signaling pathway GO:0030513 9.76 MSX1 BMP4
23 positive regulation of smoothened signaling pathway GO:0045880 9.76 SHH PRRX1
24 telencephalon development GO:0021537 9.76 FGF8 BMP4
25 developmental growth GO:0048589 9.76 SHH GLI2
26 outflow tract septum morphogenesis GO:0003148 9.76 FGF8 BMP4
27 anatomical structure formation involved in morphogenesis GO:0048646 9.76 SHH GLI2 BMP4
28 embryonic digit morphogenesis GO:0042733 9.76 SHH MSX1 GLI2 BMP4
29 branching involved in blood vessel morphogenesis GO:0001569 9.75 SHH FGF8
30 vasculature development GO:0001944 9.75 SHH BMP4
31 positive regulation of mesenchymal cell proliferation GO:0002053 9.75 SHH PRRX1
32 anatomical structure development GO:0048856 9.75 SHH GLI2
33 thyroid gland development GO:0030878 9.75 SHH FGF8
34 renal system development GO:0072001 9.75 SHH BMP4
35 dopaminergic neuron differentiation GO:0071542 9.75 SHH OTX2 FGF8
36 hindbrain development GO:0030902 9.74 SHH GLI2
37 embryonic pattern specification GO:0009880 9.74 SHH PGAP1
38 signal transduction involved in regulation of gene expression GO:0023019 9.74 MSX1 FGF8
39 middle ear morphogenesis GO:0042474 9.74 PRRX1 MSX1
40 osteoblast development GO:0002076 9.74 SHH GLI2
41 male genitalia development GO:0030539 9.74 SHH FGF8
42 spinal cord motor neuron differentiation GO:0021522 9.74 SHH LBX1 GLI2
43 negative regulation of chondrocyte differentiation GO:0032331 9.73 GLI2 BMP4
44 head development GO:0060322 9.73 PGAP1 GLI2
45 epithelial tube branching involved in lung morphogenesis GO:0060441 9.73 SHH BMP4
46 embryonic morphogenesis GO:0048598 9.73 SHH BMP4
47 anterior/posterior axis specification GO:0009948 9.73 PGAP1 BMP4
48 mesonephros development GO:0001823 9.73 FGF8 BMP4
49 lung morphogenesis GO:0060425 9.73 SHH FGF8 BMP4
50 embryonic limb morphogenesis GO:0030326 9.73 SHH PRRX1 MSX1 BMP4

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.7 PRRX1 OTX2 OTX1 MSX1 LBX1 GLI2
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.56 PRRX1 OTX2 OTX1 GLI2
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.5 PRRX1 OTX2 OTX1 MSX1 LBX1 GLI2
4 sequence-specific DNA binding GO:0043565 9.17 PRRX1 OTX2 OTX1 MSX1 LBX1 GLI2

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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