AGOTC
MCID: AGN012
MIFTS: 53

Agnathia-Otocephaly Complex (AGOTC) malady

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

Aliases & Classifications for Agnathia-Otocephaly Complex

Aliases & Descriptions for Agnathia-Otocephaly Complex:

Name: Agnathia-Otocephaly Complex 54 12 24 66 13 14
Otocephaly 12 66 69
Agnathia-Holoprosencephaly-Situs Inversus Syndrome 12 56
Dysgnathia Complex Agnathia-Holoprosencephaly 12 66
Holoprosencephaly-Agnathia 12 66
Dysgnathia Complex 69
Jaw Abnormalities 42
Agotc 66

Characteristics:

Orphanet epidemiological data:

56
agnathia-holoprosencephaly-situs inversus syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Antenatal,Neonatal; Age of death: infantile;

HPO:

32
agnathia-otocephaly complex:
Inheritance autosomal recessive inheritance autosomal dominant inheritance
Onset and clinical course phenotypic variability


Classifications:



External Ids:

OMIM 54 202650
Disease Ontology 12 DOID:0060341
ICD10 33 Q18.2
Orphanet 56 ORPHA990
ICD10 via Orphanet 34 Q87.8

Summaries for Agnathia-Otocephaly Complex

OMIM : 54 Agnathia-otocephaly is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular... (202650) more...

MalaCards based summary : Agnathia-Otocephaly Complex, also known as otocephaly, is related to dysgnathia complex and cerebrocostomandibular syndrome, and has symptoms including respiratory distress, agenesis of corpus callosum and abnormality of the eye. 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. The drugs Nicardipine and Dexmedetomidine have been mentioned in the context of this disorder. Affiliated tissues include eye and cerebellum, and related phenotypes are growth/size/body region and embryo

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 : 66 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

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



Diseases related to Agnathia-Otocephaly Complex

Symptoms & Phenotypes for Agnathia-Otocephaly Complex

Symptoms by clinical synopsis from OMIM:

202650

Clinical features from OMIM:

202650

Human phenotypes related to Agnathia-Otocephaly Complex:

56 32 (show all 27)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory distress 56 32 Very frequent (99-80%) HP:0002098
2 agenesis of corpus callosum 56 32 Very frequent (99-80%) HP:0001274
3 abnormality of the eye 56 32 Very frequent (99-80%) HP:0000478
4 aplasia/hypoplasia of the cerebellum 56 32 Very frequent (99-80%) HP:0007360
5 low-set, posteriorly rotated ears 56 32 Very frequent (99-80%) HP:0000368
6 narrow mouth 56 32 Very frequent (99-80%) HP:0000160
7 polyhydramnios 56 32 Very frequent (99-80%) HP:0001561
8 hypoplasia of penis 56 32 Very frequent (99-80%) HP:0008736
9 holoprosencephaly 56 32 Very frequent (99-80%) HP:0001360
10 aplasia/hypoplasia of the eyebrow 56 32 Very frequent (99-80%) HP:0100840
11 narrow internal auditory canal 56 32 Very frequent (99-80%) HP:0011386
12 situs inversus totalis 56 32 Very frequent (99-80%) HP:0001696
13 cyclopia 56 32 Very frequent (99-80%) HP:0009914
14 aplasia/hypoplasia involving the nose 56 32 Very frequent (99-80%) HP:0009924
15 absent nares 56 32 Very frequent (99-80%) HP:0100596
16 abnormality of the cranial nerves 56 32 Very frequent (99-80%) HP:0001291
17 microglossia 56 32 Very frequent (99-80%) HP:0000171
18 mandibular aplasia 56 32 Very frequent (99-80%) HP:0009939
19 synotia 56 32 Very frequent (99-80%) HP:0100663
20 cleft palate 32 HP:0000175
21 micrognathia 32 HP:0000347
22 downslanted palpebral fissures 32 HP:0000494
23 conductive hearing impairment 32 HP:0000405
24 tracheomalacia 32 HP:0002779
25 laryngeal hypoplasia 32 HP:0008749
26 aglossia 32 HP:0012730
27 hypoplasia of the epiglottis 32 HP:0005349

UMLS symptoms related to Agnathia-Otocephaly Complex:


respiratory distress

MGI Mouse Phenotypes related to Agnathia-Otocephaly Complex:

44 (show all 18)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.4 ALX3 BMP4 CRKL DCX FGF8 GLI2
2 embryo MP:0005380 10.37 HHAT LBX1 MSX1 NODAL OTX1 OTX2
3 craniofacial MP:0005382 10.36 GLI2 HHAT MSX1 NODAL OTX1 OTX2
4 behavior/neurological MP:0005386 10.35 LBX1 MSX1 OTX1 OTX2 PLCB4 PRRX1
5 digestive/alimentary MP:0005381 10.31 FGF8 GLI2 HHAT MSX1 NODAL OTX1
6 mortality/aging MP:0010768 10.31 ALX3 BMP4 CRKL MSX1 NODAL OTX1
7 cardiovascular system MP:0005385 10.27 BMP4 CRKL FGF8 HHAT LBX1 MSX1
8 endocrine/exocrine gland MP:0005379 10.25 ALX3 BMP4 CRKL FGF8 GLI2 HHAT
9 nervous system MP:0003631 10.22 ALX3 BMP4 CRKL DCX FGF8 GLI2
10 cellular MP:0005384 10.21 ALX3 BMP4 FGF8 GLI2 LBX1 NODAL
11 homeostasis/metabolism MP:0005376 10.2 GLI2 HHAT MSX1 NODAL OTX1 OTX2
12 hearing/vestibular/ear MP:0005377 10.18 BMP4 CRKL FGF8 GLI2 MSX1 OTX1
13 limbs/digits/tail MP:0005371 10.13 SHH ALX3 BMP4 CRKL FGF8 GLI2
14 muscle MP:0005369 10.02 BMP4 FGF8 GLI2 LBX1 MSX1 NODAL
15 reproductive system MP:0005389 10 ALX3 BMP4 DCX FGF8 GLI2 HHAT
16 respiratory system MP:0005388 9.9 ALX3 BMP4 FGF8 GLI2 HHAT MSX1
17 skeleton MP:0005390 9.8 FGF8 GLI2 HHAT MSX1 NODAL OTX1
18 vision/eye MP:0005391 9.47 ALX3 BMP4 CRKL FGF8 GLI2 HHAT

Drugs & Therapeutics for Agnathia-Otocephaly Complex

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

(show top 50) (show all 145)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nicardipine Approved Phase 4 55985-32-5 4474
2
Dexmedetomidine Approved, Vet_approved Phase 4 76631-46-4, 113775-47-6 68602 5311068 56032
3
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
4
Remifentanil Approved Phase 4 132875-61-7 60815
5
Tranexamic Acid Approved Phase 4,Phase 3 1197-18-8 5526
6
Codeine Approved, Illicit Phase 4 76-57-3 5284371
7
Guaifenesin Approved, Vet_approved Phase 4 93-14-1 3516
8
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613 2171
9 Analgesics Phase 4,Phase 2
10 calcium channel blockers Phase 4
11 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
12 Adrenergic Agents Phase 4
13 Narcotics Phase 4
14 Adrenergic Agonists Phase 4
15 Adrenergic alpha-2 Receptor Agonists Phase 4
16 Coagulants Phase 4,Phase 3
17 Adrenergic alpha-Agonists Phase 4
18 Neurotransmitter Agents Phase 4,Phase 1,Phase 2
19 Hemostatics Phase 4,Phase 3
20 Analgesics, Non-Narcotic Phase 4,Phase 2
21 Analgesics, Opioid Phase 4
22 Anesthetics Phase 4,Phase 2,Phase 3,Phase 1
23 Anesthetics, General Phase 4
24 Anesthetics, Inhalation Phase 4
25 Anesthetics, Intravenous Phase 4
26 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1
27 Vasodilator Agents Phase 4
28 Hypnotics and Sedatives Phase 4
29 Anti-Bacterial Agents Phase 4,Phase 2,Phase 1
30 Platelet Aggregation Inhibitors Phase 4
31 Anti-Infective Agents Phase 4,Phase 2,Phase 1
32 Antifibrinolytic Agents Phase 4,Phase 3
33 Antihypertensive Agents Phase 4
34 Respiratory System Agents Phase 4
35 Antibiotics, Antitubercular Phase 4,Phase 2,Phase 1
36 Antitubercular Agents Phase 4,Phase 2
37 Antitussive Agents Phase 4
38 Calcium, Dietary Phase 4
39 Central Nervous System Depressants Phase 4,Phase 2,Phase 3
40 Fibrin Tissue Adhesive Phase 4
41
Bupivacaine Approved, Investigational Phase 2, Phase 3 2180-92-9, 38396-39-3 2474
42
Levobupivacaine Approved Phase 2, Phase 3 27262-47-1 92253
43
Verteporfin Approved, Investigational Phase 3 129497-78-5
44
leucovorin Approved, Nutraceutical Phase 3 58-05-9 54575, 6560146 143
45
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 59-30-3 6037
46 Hematinics Phase 3
47 Dermatologic Agents Phase 3,Phase 2
48 Trace Elements Phase 3,Phase 2
49 Anesthetics, Local Phase 2, Phase 3
50 Vitamin B Complex Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 120)
id Name Status NCT ID Phase
1 Double Blind Randomized Study Into the Efficacy of Codeine Phosphate Analgesia After Cleft Palate Repair in Infants Completed NCT00386269 Phase 4
2 Acid Tranexamic Effectiveness in Reducing the Intraoperative Bleeding in Palatoplasty Completed NCT02422056 Phase 4
3 The Effect of Deliberate Hypotension on QTc, Tp-e Intervals and Heart Rate Variability Completed NCT01634594 Phase 4
4 The Role of Antibiotic Prophylaxis in Cleft Palate and Velopharyngeal Insufficiency Repair Recruiting NCT02688634 Phase 4
5 The Use of Fibrin Sealant to Reduce Post Operative Pain in Cleft Palate Surgery Recruiting NCT02953145 Phase 4
6 Dexmedetomidine vs Placebo for Pediatric Cleft Palate Repair Not yet recruiting NCT02915042 Phase 4
7 Comparative Results of Maxillary Deficiency Treatment by Fixed Tongue Appliance and Fixed Facemask in Growing Patients Unknown status NCT00916084 Phase 3
8 Comparative Results of Maxillary Deficiency Treatment by Tongue Plate and Facemask in Growing Patients Completed NCT00519415 Phase 3
9 Oral Cleft Prevention Trial in Brazil Completed NCT00098319 Phase 3
10 Comparative Study Between Levobupivacaine and Bupivacaine for Nerve Block During Pediatric Primary Cleft Palate Surgery Completed NCT02923869 Phase 2, Phase 3
11 Oral Cleft Prevention Program Completed NCT00397917 Phase 3
12 Preventive EXACYL® on Perioperative Bleeding During Orthognathism of Maxillary Surgery Recruiting NCT02702128 Phase 3
13 Two Studies to Determine if Verteporfin PDT is Effective & Safe in Treating Multiple Basal Cell Carcinoma of the Skin. Terminated NCT00049959 Phase 3
14 Efficacy, Safety and Tolerability of Topically Applied LDE225 Cream (Hedgehog Pathway Inhibitor) in Adult Patients With Nevoid Basal Cell Carcinoma Syndrome (NBCCS) Withdrawn NCT03070691 Phase 2, Phase 3
15 Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome Unknown status NCT00004347 Phase 2
16 Cell Therapy for Craniofacial Bone Defects Completed NCT01616953 Phase 1, Phase 2
17 Cleft Palate Surgery and Speech Development Completed NCT00004639 Phase 2
18 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2
19 Does Use of Rigid Fixation After Removing Distraction Osteogenesis Device Reduce the Relapse? Completed NCT02350803 Phase 2
20 Preoperative Antibiotics Study Completed NCT00760006 Phase 2
21 Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2
22 Prenatal Screening For Smith-Lemli-Opitz Syndrome Completed NCT00070850 Phase 2
23 Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
24 Cleft Orthognathic Surgery Versus Distraction Osteogenesis - Which is Better? Completed NCT00930124 Phase 2
25 A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome Patients Completed NCT00961896 Phase 2
26 Topical Tazarotene in Treating Patients With Basal Cell Skin Cancer and Basal Cell Nevus Syndrome on the Face Completed NCT00489086 Phase 2
27 Topical Tazarotene in Treating Patients With Basal Cell Skin Cancer and Basal Cell Nevus Syndrome on the Chest and Back Completed NCT00783965 Phase 2
28 Trial of Patidegib Gel 2%, 4%, and Vehicle to Decrease the Number of Surgically Eligible Basal Cell Carcinomas (BCC) in Gorlin Syndrome Patients Completed NCT02762084 Phase 2
29 Trial Comparing the Effects of Intermittent Vismodegib vs. PDT in Patients With Multiple Basal Cell Carcinomas Completed NCT01556009 Phase 2
30 Efficacy, Safety and Pharmacokinetics of Oral LDE225 in Treatment of Patients With Nevoid Basal Cell Carcinoma Syndrome (NBCCS) Completed NCT01350115 Phase 2
31 To Determine The Efficacy and Safety of GDC-0449 in Patients With Basal Cell Nevus Syndrome (BCNS) Completed NCT00957229 Phase 2
32 Celecoxib in Preventing Basal Cell Carcinoma in Patients With Basal Cell Nevus Syndrome Completed NCT00023621 Phase 2
33 Improvement of the Appearance of Cleft Lip Scars Using Botox Recruiting NCT02247193 Phase 1, Phase 2
34 Furlow Palatoplasty With Tensor Tenopexy Recruiting NCT01535131 Phase 2
35 Ambrisentan in Single Ventricle Recruiting NCT02080637 Phase 2
36 Open-label Trial of SUBA™-Itraconazole (SUBA-Cap) in Subjects With Basal Cell Carcinoma Nevus Syndrome (BCCNS) Recruiting NCT02354261 Phase 2
37 A Study of the Efficacy and Safety of ASN-002 in Adult Patients With Low-risk Nodular Basal Cell Carcinoma Recruiting NCT02550678 Phase 1, Phase 2
38 A Study of Two Vismodegib Regimens in Participants With Multiple Basal Cell Carcinomas Active, not recruiting NCT01815840 Phase 2
39 Photodynamic Therapy Using Blue Light or Red Light in Treating Basal Cell Carcinoma in Patients With Basal Cell Nevus Syndrome Active, not recruiting NCT02258243 Phase 2
40 IV Acetaminophen in Children Undergoing Palatoplasty Withdrawn NCT01760330 Phase 2
41 Effect of the Innovated Seifi's Functional Appliance on Skeletal and Dentoalveolar Changes of Class II/ 1, Deep Bite Unknown status NCT00688233 Phase 1
42 Periodontal Ligament Stress Level and Tooth Movement Completed NCT00099814 Phase 1
43 Topical Sirolimus in Patients With Basal Cell Nevus Syndrome and in Healthy Participants Completed NCT00433485 Phase 1
44 Nasal Septum Autologous Chondrocytes Transplantation for Condylar Resorption After Orthognathic Surgery Recruiting NCT03137914 Phase 1
45 Photodynamic Therapy and Vismodegib for Multiple Basal Cell Carcinomas Recruiting NCT02639117 Phase 1
46 Computational Modeling for Prediction of Acoustic Changes in Vowel Production Due to Orthognathic Surgery Unknown status NCT01887977
47 FaceBase Biorepository Unknown status NCT01252264
48 3D Imaging of Hard and Soft Tissue in Orthognathic Surgery Unknown status NCT00285714
49 An Investigation for the Optimal Timing of a Cleft Palate Repair Unknown status NCT00779961 Early Phase 1
50 Sensory Retraining Facilitates Sensory Recovery After Mandibular Nerve Injury Unknown status NCT01586598

Search NIH Clinical Center for Agnathia-Otocephaly Complex

Cochrane evidence based reviews: jaw abnormalities

Genetic Tests for Agnathia-Otocephaly Complex

Genetic tests related to Agnathia-Otocephaly Complex:

id Genetic test Affiliating Genes
1 Agnathia-Otocephaly Complex 24 PRRX1

Anatomical Context for Agnathia-Otocephaly Complex

MalaCards organs/tissues related to Agnathia-Otocephaly Complex:

39
Eye, Cerebellum

Publications for Agnathia-Otocephaly Complex

Articles related to Agnathia-Otocephaly Complex:

id Title Authors Year
1
Severe Agnathia-Otocephaly Complex: Surgical Management and Longitudinal Follow-Up of 4 Patients from Birth Through Adulthood. ( 26397488 )
2015
2
Severe Agnathia-Otocephaly Complex: Surgical Management and Longitudinal Follow-up From Birth Through Adulthood. ( 26517463 )
2015
3
Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2. ( 25589041 )
2015
4
Agnathia-otocephaly complex: a case report and examination of the OTX2 and PRRX1 genes. ( 22198066 )
2012
5
Agnathia-otocephaly complex in a fetus with maternal use of topical 1% salicylate. ( 18049088 )
2008
6
A case of agnathia-otocephaly complex assessed prenatally for ex utero intrapartum treatment (EXIT) by three-dimensional ultrasonography. ( 17497748 )
2007
7
Agnathia-otocephaly complex: report of three cases with involvement of two different Carnegie stages. ( 12244557 )
2002

Variations for Agnathia-Otocephaly Complex

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

66
id Symbol AA change Variation ID SNP ID
1 PRRX1 p.Phe113Ser VAR_066414 rs387906667

ClinVar genetic disease variations for Agnathia-Otocephaly Complex:

6
id 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 PRRX1, ALA231PRO single nucleotide variant Pathogenic
3 PRRX1 NM_006902.4(PRRX1): c.269delA (p.Lys90Argfs) deletion Pathogenic rs398122375 GRCh37 Chromosome 1, 170688894: 170688894
4 PRRX1 NM_006902.4(PRRX1): c.266_269dupAAAA (p.Arg92Glufs) duplication Pathogenic rs398122376 GRCh37 Chromosome 1, 170688891: 170688894

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)
id Name GO ID Score Top Affiliating Genes
1 kidney development GO:0001822 9.94 BMP4 FGF8 GLI2 SHH
2 BMP signaling pathway GO:0030509 9.91 BMP4 FGF8 MSX1 NODAL
3 palate development GO:0060021 9.9 MSX1 PRRX1 SHH
4 cartilage development GO:0051216 9.9 BMP4 MSX1 PRRX1
5 determination of left/right symmetry GO:0007368 9.9 FGF8 NODAL SHH
6 inner ear morphogenesis GO:0042472 9.9 FGF8 OTX1 PRRX1
7 smoothened signaling pathway GO:0007224 9.89 BMP4 GLI2 HHAT SHH
8 embryonic skeletal system morphogenesis GO:0048704 9.88 ALX3 BMP4 PRRX1
9 positive regulation of cell differentiation GO:0045597 9.87 BMP4 FGF8 SHH
10 embryonic digit morphogenesis GO:0042733 9.86 BMP4 GLI2 MSX1 SHH
11 branching involved in ureteric bud morphogenesis GO:0001658 9.85 BMP4 FGF8 SHH
12 odontogenesis of dentin-containing tooth GO:0042475 9.85 BMP4 GLI2 MSX1 SHH
13 protein localization to nucleus GO:0034504 9.84 BMP4 MSX1 SHH
14 metanephros development GO:0001656 9.84 BMP4 FGF8 SHH
15 cell fate commitment GO:0045165 9.84 BMP4 FGF8 NODAL SHH
16 pituitary gland development GO:0021983 9.83 BMP4 GLI2 MSX1
17 neuron fate commitment GO:0048663 9.83 BMP4 LBX1 SHH
18 embryonic forelimb morphogenesis GO:0035115 9.83 ALX3 MSX1 SHH
19 heart looping GO:0001947 9.83 FGF8 LBX1 NODAL SHH
20 branching morphogenesis of an epithelial tube GO:0048754 9.82 BMP4 GLI2 SHH
21 embryonic pattern specification GO:0009880 9.82 NODAL PGAP1 SHH
22 dopaminergic neuron differentiation GO:0071542 9.81 FGF8 OTX2 SHH
23 embryonic limb morphogenesis GO:0030326 9.81 BMP4 MSX1 PRRX1 SHH
24 vasculature development GO:0001944 9.8 BMP4 NODAL SHH
25 pattern specification process GO:0007389 9.8 ALX3 CRKL GLI2 SHH
26 lung development GO:0030324 9.8 BMP4 FGF8 GLI2 NODAL SHH
27 heart development GO:0007507 9.8 BMP4 CRKL FGF8 GLI2 MSX1 NODAL
28 spinal cord motor neuron differentiation GO:0021522 9.79 GLI2 LBX1 SHH
29 lung morphogenesis GO:0060425 9.79 BMP4 FGF8 SHH
30 midbrain development GO:0030901 9.78 MSX1 OTX1 OTX2 SHH
31 anterior/posterior axis specification GO:0009948 9.77 BMP4 NODAL PGAP1
32 forebrain development GO:0030900 9.77 BMP4 MSX1 OTX1 OTX2 SHH
33 thyroid gland development GO:0030878 9.76 FGF8 SHH
34 outflow tract septum morphogenesis GO:0003148 9.76 BMP4 FGF8
35 renal system development GO:0072001 9.76 BMP4 SHH
36 hindbrain development GO:0030902 9.76 GLI2 SHH
37 regulation of smoothened signaling pathway GO:0008589 9.76 GLI2 OTX2
38 embryonic cranial skeleton morphogenesis GO:0048701 9.76 ALX3 BMP4 NODAL PRRX1
39 signal transduction involved in regulation of gene expression GO:0023019 9.75 FGF8 MSX1
40 middle ear morphogenesis GO:0042474 9.75 MSX1 PRRX1
41 male genitalia development GO:0030539 9.75 FGF8 SHH
42 embryonic heart tube development GO:0035050 9.75 FGF8 NODAL
43 osteoblast development GO:0002076 9.75 GLI2 SHH
44 negative regulation of chondrocyte differentiation GO:0032331 9.75 BMP4 GLI2
45 epithelial tube branching involved in lung morphogenesis GO:0060441 9.75 BMP4 SHH
46 dorsal/ventral neural tube patterning GO:0021904 9.75 BMP4 GLI2 SHH
47 anatomical structure development GO:0048856 9.74 GLI2 SHH
48 embryonic morphogenesis GO:0048598 9.74 BMP4 SHH
49 digestive tract morphogenesis GO:0048546 9.74 NODAL SHH
50 head development GO:0060322 9.74 GLI2 PGAP1

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

id Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.17 ALX3 GLI2 LBX1 MSX1 OTX1 OTX2
2 morphogen activity GO:0016015 8.96 NODAL SHH

Sources for Agnathia-Otocephaly Complex

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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
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42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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