AGOTC
MCID: AGN012
MIFTS: 53

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 58 12 76 38 13 15
Otocephaly 58 12 76 45 74
Dysgnathia Complex Agnathia-Holoprosencephaly 58 12 76
Holoprosencephaly-Agnathia 58 12 76
Agnathia-Holoprosencephaly-Situs Inversus Syndrome 12 60
Agotc 58 76
Dysgnathia Complex 74
Jaw Abnormalities 45

Characteristics:

Orphanet epidemiological data:

60
agnathia-holoprosencephaly-situs inversus syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Antenatal,Neonatal; Age of death: infantile;

OMIM:

58
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:

33
agnathia-otocephaly complex:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Agnathia-Otocephaly Complex

OMIM : 58 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)

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 bone, eye and trachea, 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.

UniProtKB/Swiss-Prot : 76 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.

Related Diseases for Agnathia-Otocephaly Complex

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

(show all 40)
# Related Disease Score Top Affiliating Genes
1 dysgnathia complex 31.0 OTX2 PRRX1
2 holoprosencephaly 30.6 FGF8 GLI2 SHH
3 alobar holoprosencephaly 29.7 FGF8 GLI2 SHH
4 microphthalmia 29.4 BMP4 GLI2 OTX2 SHH
5 cerebrocostomandibular syndrome 10.8
6 palatopharyngeal incompetence 10.4
7 auriculocondylar syndrome 1 10.2
8 maxillonasal dysplasia, binder type 10.2 ALX3 SHH
9 hemifacial microsomia 10.2 ALX3 OTX2
10 acromelic frontonasal dysostosis 10.2 ALX3 SHH
11 microphthalmia, syndromic 5 10.1
12 combined pituitary hormone deficiencies, genetic forms 10.1 GLI2 OTX2
13 anencephaly 10.0
14 fryns microphthalmia syndrome 10.0
15 male infertility 10.0
16 myelomeningocele 10.0
17 infertility 10.0
18 agnathia-microstomia-synotia 10.0
19 exencephaly 10.0
20 pallister-hall syndrome 9.9 GLI2 SHH
21 infratentorial cancer 9.9 GLI2 OTX2 SHH
22 greig cephalopolysyndactyly syndrome 9.9 GLI2 SHH
23 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly 9.8 MSX1 SHH
24 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 9.8 GLI2 MSX1 SHH
25 axenfeld-rieger syndrome, type 1 9.8 BMP4 FGF8 SHH
26 septopreoptic holoprosencephaly 9.8 FGF8 GLI2 SHH
27 midline interhemispheric variant of holoprosencephaly 9.8 FGF8 GLI2 SHH
28 lobar holoprosencephaly 9.8 FGF8 GLI2 SHH
29 microform holoprosencephaly 9.8 FGF8 GLI2 SHH
30 semilobar holoprosencephaly 9.8 FGF8 GLI2 SHH
31 syngnathia 9.8 BMP4 FGF8 MSX1
32 focal epithelial hyperplasia 9.8 FGF8 GLI2 SHH
33 cleft palate with or without ankyloglossia, x-linked 9.8 BMP4 FGF8 MSX1
34 cleft palate, isolated 9.7 ALX3 BMP4 MSX1
35 osteoporosis 9.7
36 bone mineral density quantitative trait locus 8 9.7
37 bone mineral density quantitative trait locus 15 9.7
38 infantile liver failure syndrome 1 9.7
39 tooth size 9.6 BMP4 FGF8 MSX1 SHH
40 physical disorder 9.1 BMP4 DCX FGF8 MSX1 SHH

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:

60 33 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 60 33 hallmark (90%) Very frequent (99-80%) HP:0001274
2 respiratory distress 60 33 hallmark (90%) Very frequent (99-80%) HP:0002098
3 aplasia/hypoplasia of the cerebellum 60 33 hallmark (90%) Very frequent (99-80%) HP:0007360
4 low-set, posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000368
5 narrow mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000160
6 polyhydramnios 60 33 hallmark (90%) Very frequent (99-80%) HP:0001561
7 hypoplasia of penis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008736
8 holoprosencephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001360
9 aplasia/hypoplasia of the eyebrow 60 33 hallmark (90%) Very frequent (99-80%) HP:0100840
10 narrow internal auditory canal 60 33 hallmark (90%) Very frequent (99-80%) HP:0011386
11 situs inversus totalis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001696
12 cyclopia 60 33 hallmark (90%) Very frequent (99-80%) HP:0009914
13 aplasia/hypoplasia involving the nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0009924
14 absent nares 60 33 hallmark (90%) Very frequent (99-80%) HP:0100596
15 microglossia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000171
16 mandibular aplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0009939
17 synotia 60 33 hallmark (90%) Very frequent (99-80%) HP:0100663
18 abnormal cranial nerve morphology 33 hallmark (90%) HP:0001291
19 abnormality of the eye 60 33 Very frequent (99-80%) HP:0000478
20 cleft palate 33 HP:0000175
21 micrognathia 33 HP:0000347
22 downslanted palpebral fissures 33 HP:0000494
23 conductive hearing impairment 33 HP:0000405
24 tracheomalacia 33 HP:0002779
25 abnormality of the cranial nerves 60 Very frequent (99-80%)
26 laryngeal hypoplasia 33 HP:0008749
27 abnormality of the outer ear 33 HP:0000356
28 hypoplasia of the epiglottis 33 HP:0005349
29 aglossia 33 HP:0012730

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Mouth:
cleft palate
microglossia
microstomia
aglossia
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:

47 (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

Search Clinical Trials , 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:

42
Bone, Eye, Trachea, Cerebellum, Liver, Pituitary, Thyroid

Publications for Agnathia-Otocephaly Complex

Articles related to Agnathia-Otocephaly Complex:

(show top 50) (show all 59)
# Title Authors Year
1
First-Trimester Diagnosis of Agnathia-Otocephaly Complex: A Series of 4 Cases and Review of the Literature. ( 30171631 )
2019
2
The location of the fetal ears: A hint for prenatal diagnosis of agnathia-otocephaly complex. ( 30756395 )
2019
3
Cyclopia: isolated and with agnathia-otocephaly complex. ( 28855214 )
2017
4
A novel mutation of orthodenticle homeobox 2 contributing to a case of otocephaly initially diagnosed by prenatal ultrasound in the first trimester. ( 27442045 )
2017
5
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. ( 27087030 )
2016
6
Otocephaly Complex: Case Report, Literature Review, and Ethical Considerations. ( 27258179 )
2016
7
Prenatal Diagnosis of Isolated Agnathia-Otocephaly: A Case Report and Review of the Literature. ( 27579201 )
2016
8
Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2. ( 25589041 )
2015
9
Otocephaly: Agnathia- Microstomia-Synotia Syndrome- A Rare Congenital Anomaly. ( 26500912 )
2015
10
Severe Agnathia-Otocephaly Complex: Surgical Management and Longitudinal Follow-up From Birth Through Adulthood. ( 26517463 )
2015
11
Agnathia-otocephaly: prenatal diagnosis by two- and three-dimensional ultrasound and magnetic resonance imaging. Case report. ( 25463893 )
2014
12
Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2. ( 24167467 )
2013
13
Recurrent agnathia-otocephaly caused by DNA replication slippage in PRRX1. ( 23444262 )
2013
14
Prenatal diagnosis of agnathia-otocephaly using sonography and magnetic resonance imaging. ( 23887968 )
2013
15
Agnathia-otocephaly complex: a case report and examination of the OTX2 and PRRX1 genes. ( 22198066 )
2012
16
OTX2 mutations contribute to the otocephaly-dysgnathia complex. ( 22577225 )
2012
17
Aprosencephaly with otocephaly in a lamb (Ovis aries). ( 22431914 )
2012
18
Prenatal diagnosis and identification of heterozygous frameshift mutation in PRRX1 in an infant with agnathia-otocephaly. ( 22674740 )
2012
19
Agnathia-otocephaly with holoprosencephaly on prenatal three-dimensional ultrasound. ( 21465602 )
2011
20
PRRX1 is mutated in a fetus with agnathia-otocephaly. ( 21294718 )
2011
21
Otocephaly: Prenatal and postnatal imaging findings. ( 21977107 )
2011
22
A case of otocephaly with anencephaly and meningomyelocele. ( 20964124 )
2010
23
Prenatal diagnosis and molecular genetic studies on a new case of agnathia-otocephaly. ( 20594144 )
2010
24
Current perspectives on the etiology of agnathia-otocephaly. ( 20849990 )
2010
25
Agnathia-synotia-microstomia (otocephaly): a case report in an African woman. ( 23457854 )
2010
26
Agnathia-otocephaly complex in a fetus with maternal use of topical 1% salicylate. ( 18049088 )
2008
27
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. ( 18173302 )
2008
28
Prenatal three-dimensional ultrasonography in a case of agnathia-otocephaly. ( 18840176 )
2008
29
Agnathia-otocephaly. ( 19283980 )
2008
30
A case of agnathia-otocephaly complex assessed prenatally for ex utero intrapartum treatment (EXIT) by three-dimensional ultrasonography. ( 17497748 )
2007
31
Computed tomographic reconstruction of a fetus with the dysgnathia complex (agnathia-otocephaly). ( 17152114 )
2007
32
PGAP1 knock-out mice show otocephaly and male infertility. ( 17711852 )
2007
33
Early second-trimester diagnosis of fetal otocephaly. ( 17330829 )
2007
34
Three-dimensional ultrasound in prenatal diagnosis of isolated otocephaly. ( 17471605 )
2007
35
Otocephaly. ( 17631468 )
2007
36
Congenital holoprosencephaly with severe otocephaly in a rottweiler puppy. ( 16617045 )
2006
37
Otocephaly, and pulmonary malformation association: two case reports. ( 16970034 )
2006
38
Otocephaly: report of five new cases and a literature review. ( 17438667 )
2006
39
Otocephaly and holoprosencephaly in only one monozygotic twin. ( 12784314 )
2003
40
Prenatal diagnosis of otocephaly with microphthalmia/anophthalmia using ultrasound and magnetic resonance imaging. ( 12905522 )
2003
41
Otocephaly or agnathia-synotia-microstomia syndrome: report of a case. ( 12856261 )
2003
42
Agnathia-otocephaly complex: report of three cases with involvement of two different Carnegie stages. ( 12244557 )
2002
43
Otocephaly: prenatal diagnosis of a new case and etiopathogenetic considerations. ( 10706365 )
2000
44
Prenatal diagnosis of otocephaly using two-dimensional and three-dimensional ultrasonography. ( 9644778 )
1998
45
Otocephaly: prenatal sonographic diagnosis. ( 9733181 )
1998
46
Nonlethal case of otocephaly and its implications for treatment. ( 9133850 )
1996
47
Otocephaly. ( 8572548 )
1995
48
Otocephaly-midline malformation association. ( 2817004 )
1989
49
Otocephaly: report of a case with ultrasound findings. ( 3070176 )
1988
50
Cyclopia-otocephaly association: a new case of the most severe variant of agnathia-holoprosencephaly complex. ( 3114309 )
1987

Variations for Agnathia-Otocephaly Complex

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

76
# Symbol AA change Variation ID SNP ID
1 PRRX1 p.Phe113Ser VAR_066414 rs387906667

ClinVar genetic disease variations for Agnathia-Otocephaly Complex:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PRRX1 NM_006902.4(PRRX1): c.338T> C (p.Phe113Ser) single nucleotide variant Pathogenic rs387906667 GRCh37 Chromosome 1, 170688963: 170688963
2 PRRX1 NM_006902.4(PRRX1): c.338T> C (p.Phe113Ser) single nucleotide variant Pathogenic rs387906667 GRCh38 Chromosome 1, 170719822: 170719822
3 PRRX1 PRRX1, ALA231PRO single nucleotide variant Pathogenic
4 PRRX1 NM_006902.4(PRRX1): c.269del (p.Lys90Argfs) deletion Pathogenic rs398122375 GRCh37 Chromosome 1, 170688894: 170688894
5 PRRX1 NM_006902.4(PRRX1): c.269del (p.Lys90Argfs) deletion Pathogenic rs398122375 GRCh38 Chromosome 1, 170719753: 170719753
6 PRRX1 NM_006902.4(PRRX1): c.266_269dup (p.Arg92Glufs) duplication Pathogenic rs398122375 GRCh37 Chromosome 1, 170688891: 170688894
7 PRRX1 NM_006902.4(PRRX1): c.266_269dup (p.Arg92Glufs) duplication Pathogenic rs398122375 GRCh38 Chromosome 1, 170719750: 170719753
8 PRRX1 NM_022716.3(PRRX1): c.343C> T (p.Arg115Trp) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 170719827: 170719827
9 PRRX1 NM_022716.3(PRRX1): c.343C> T (p.Arg115Trp) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 170688968: 170688968

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 BMP4 FGF8 MSX1
2 cartilage development GO:0051216 9.89 BMP4 MSX1 PRRX1
3 kidney development GO:0001822 9.89 BMP4 FGF8 GLI2 SHH
4 roof of mouth development GO:0060021 9.88 MSX1 PRRX1 SHH
5 cell fate commitment GO:0045165 9.88 BMP4 FGF8 SHH
6 inner ear morphogenesis GO:0042472 9.88 FGF8 OTX1 PRRX1
7 heart looping GO:0001947 9.87 FGF8 LBX1 SHH
8 embryonic skeletal system morphogenesis GO:0048704 9.85 ALX3 BMP4 PRRX1
9 lung development GO:0030324 9.85 BMP4 FGF8 GLI2 SHH
10 positive regulation of cell differentiation GO:0045597 9.83 BMP4 FGF8 SHH
11 smoothened signaling pathway GO:0007224 9.83 BMP4 GLI2 HHAT SHH
12 branching involved in ureteric bud morphogenesis GO:0001658 9.82 BMP4 FGF8 SHH
13 embryonic cranial skeleton morphogenesis GO:0048701 9.81 ALX3 BMP4 PRRX1
14 metanephros development GO:0001656 9.81 BMP4 FGF8 SHH
15 pattern specification process GO:0007389 9.81 ALX3 CRKL GLI2 SHH
16 protein localization to nucleus GO:0034504 9.8 BMP4 MSX1 SHH
17 embryonic forelimb morphogenesis GO:0035115 9.79 ALX3 MSX1 SHH
18 neuron fate commitment GO:0048663 9.79 BMP4 LBX1 SHH
19 pituitary gland development GO:0021983 9.78 BMP4 GLI2 MSX1
20 embryonic digit morphogenesis GO:0042733 9.78 BMP4 GLI2 MSX1 SHH
21 branching morphogenesis of an epithelial tube GO:0048754 9.77 BMP4 GLI2 SHH
22 positive regulation of BMP signaling pathway GO:0030513 9.76 BMP4 MSX1
23 positive regulation of smoothened signaling pathway GO:0045880 9.76 PRRX1 SHH
24 developmental growth GO:0048589 9.76 GLI2 SHH
25 telencephalon development GO:0021537 9.76 BMP4 FGF8
26 branching involved in blood vessel morphogenesis GO:0001569 9.76 FGF8 SHH
27 anatomical structure formation involved in morphogenesis GO:0048646 9.76 BMP4 GLI2 SHH
28 odontogenesis of dentin-containing tooth GO:0042475 9.76 BMP4 GLI2 MSX1 SHH
29 outflow tract septum morphogenesis GO:0003148 9.75 BMP4 FGF8
30 anatomical structure development GO:0048856 9.75 GLI2 SHH
31 positive regulation of mesenchymal cell proliferation GO:0002053 9.75 PRRX1 SHH
32 vasculature development GO:0001944 9.75 BMP4 SHH
33 thyroid gland development GO:0030878 9.75 FGF8 SHH
34 regulation of smoothened signaling pathway GO:0008589 9.75 GLI2 OTX2
35 renal system development GO:0072001 9.75 BMP4 SHH
36 dopaminergic neuron differentiation GO:0071542 9.75 FGF8 OTX2 SHH
37 embryonic pattern specification GO:0009880 9.74 PGAP1 SHH
38 hindbrain development GO:0030902 9.74 GLI2 SHH
39 middle ear morphogenesis GO:0042474 9.74 MSX1 PRRX1
40 signal transduction involved in regulation of gene expression GO:0023019 9.74 FGF8 MSX1
41 male genitalia development GO:0030539 9.74 FGF8 SHH
42 osteoblast development GO:0002076 9.74 GLI2 SHH
43 lung morphogenesis GO:0060425 9.74 BMP4 FGF8 SHH
44 head development GO:0060322 9.73 GLI2 PGAP1
45 negative regulation of chondrocyte differentiation GO:0032331 9.73 BMP4 GLI2
46 epithelial tube branching involved in lung morphogenesis GO:0060441 9.73 BMP4 SHH
47 embryonic morphogenesis GO:0048598 9.73 BMP4 SHH
48 anterior/posterior axis specification GO:0009948 9.73 BMP4 PGAP1
49 mesonephros development GO:0001823 9.73 BMP4 FGF8
50 spinal cord motor neuron differentiation GO:0021522 9.73 GLI2 LBX1 SHH

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 ALX3 GLI2 LBX1 MSX1 OTX1 OTX2
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.56 GLI2 OTX1 OTX2 PRRX1
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.5 ALX3 GLI2 LBX1 MSX1 OTX1 OTX2
4 sequence-specific DNA binding GO:0043565 9.17 ALX3 GLI2 LBX1 MSX1 OTX1 OTX2

Sources for Agnathia-Otocephaly Complex

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
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45 MeSH
46 MESH via Orphanet
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50 NCI
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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75 UMLS via Orphanet
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