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 57 12 72 36 29 13 6 15
Otocephaly 57 12 72 44 70
Dysgnathia Complex Agnathia-Holoprosencephaly 57 12 72
Holoprosencephaly-Agnathia 57 12 72
Agnathia-Holoprosencephaly-Situs Inversus Syndrome 12 58
Agotc 57 72
Dysgnathia Complex 70
Jaw Abnormalities 44

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®:

57 (Updated 05-Apr-2021)
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 microphthalmia, syndromic 5, 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 Post-translational modification- synthesis of GPI-anchored proteins and Dopaminergic Neurogenesis. The drugs Chlorhexidine and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include eye, cerebellum and trachea, and related phenotypes are agenesis of corpus callosum and narrow mouth

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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 Otocephaly, also known as agnathia-otocephaly complex, is a very rare and lethal cephalic disorder... 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 56)
# Related Disease Score Top Affiliating Genes
1 dysgnathia complex 32.6 PRRX1 OTX2
2 microphthalmia, syndromic 5 30.8 TMEM260 OTX2
3 holoprosencephaly 30.5 SHH PRRX1 PGAP1 OTX2 CHRD
4 cleft palate, isolated 29.8 SHH PIGW DLX6 DLX5
5 cerebrocostomandibular syndrome 10.9
6 medullomyoblastoma 10.3 SHH OTX2
7 nodular medulloblastoma 10.3 SHH OTX2
8 salt and pepper syndrome 10.3 PGAP1 MPPE1
9 split-hand/foot malformation 5 10.3 DLX6 DLX5
10 split-hand/foot malformation 2 10.3 DLX6 DLX5
11 multiple congenital anomalies-hypotonia-seizures syndrome 2 10.3 PGAP1 MPPE1
12 split-hand/foot malformation 3 10.2 DLX6 DLX5
13 split-hand/foot malformation 6 10.2 DLX6 DLX5
14 split-hand/foot malformation 4 10.2 DLX6 DLX5
15 polyhydramnios 10.2
16 agnathia-microstomia-synotia 10.2
17 branchial arch defects 10.2
18 hypoglossia/aglossia 10.2
19 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 10.2 DLX6 DLX5
20 holoprosencephaly 4 10.2 SHH CHRD
21 orofacial cleft 8 10.2 DLX6 DLX5
22 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive 10.1 DLX6 DLX5
23 multiple congenital anomalies-hypotonia-seizures syndrome 10.1 PIGW PIGN MPPE1
24 diaphragmatic hernia, congenital 10.1 SHH PIGW PIGN
25 spastic paraplegia 56, autosomal recessive 10.1 PGAP1 DDHD1
26 isolated split hand-split foot malformation 10.1 DLX6 DLX5
27 situs inversus 10.1
28 chromosome 2q35 duplication syndrome 10.1 SHH DLX6 DLX5
29 anencephaly 10.1
30 hypotonia-cystinuria syndrome 10.0 TEX30 AADACL4 AADACL2
31 anterior segment dysgenesis 4 10.0 PIGW PIGN PGAP1 MPPE1
32 pituitary hypoplasia 10.0 SHH OTX2
33 fryns microphthalmia syndrome 10.0
34 microphthalmia 10.0
35 alobar holoprosencephaly 10.0
36 orofacial cleft 9.9 SHH DLX6 DLX5 CHRD
37 arterial tortuosity syndrome 9.8
38 hydrocephalus, congenital, 1 9.8
39 loeys-dietz syndrome 3 9.8
40 mental retardation, autosomal recessive 42 9.8
41 loeys-dietz syndrome 9.8
42 autosomal recessive non-syndromic intellectual disability 9.8
43 myelomeningocele 9.8
44 cerebellar hypoplasia 9.8
45 male infertility 9.8
46 infertility 9.8
47 dextrocardia with situs inversus 9.8
48 exencephaly 9.8
49 colobomatous microphthalmia 9.8
50 maxillofacial dysostosis 9.8

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 narrow mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000160
3 abnormal cranial nerve morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001291
4 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
5 polyhydramnios 58 31 hallmark (90%) Very frequent (99-80%) HP:0001561
6 holoprosencephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001360
7 aplasia/hypoplasia of the cerebellum 58 31 hallmark (90%) Very frequent (99-80%) HP:0007360
8 hypoplasia of penis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008736
9 aplasia/hypoplasia of the eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0100840
10 narrow internal auditory canal 58 31 hallmark (90%) Very frequent (99-80%) HP:0011386
11 situs inversus totalis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001696
12 cyclopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0009914
13 aplasia/hypoplasia involving the nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0009924
14 absent nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0100596
15 respiratory distress 58 31 hallmark (90%) Very frequent (99-80%) HP:0002098
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 cleft palate 31 HP:0000175
21 micrognathia 31 HP:0000347
22 downslanted palpebral fissures 31 HP:0000494
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®:

57 (Updated 05-Apr-2021)
Head And Neck Mouth:
cleft palate
microglossia
aglossia
microstomia
hypoplastic oropharynx

Respiratory:
respiratory distress

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 Airways:
tracheomalacia
blind-ended trachea

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 (Updated 05-Apr-2021)

UMLS symptoms related to Agnathia-Otocephaly Complex:


respiratory distress

MGI Mouse Phenotypes related to Agnathia-Otocephaly Complex:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.13 CHRD DLX5 DLX6 OTX1 OTX2 PGAP1
2 growth/size/body region MP:0005378 10.1 CHRD DDHD1 DLX5 DLX6 OTX1 OTX2
3 embryo MP:0005380 10.07 CHRD DLX5 DLX6 OTX1 OTX2 PGAP1
4 digestive/alimentary MP:0005381 10.06 CHRD DLX5 DLX6 OTX1 OTX2 PGAP1
5 hearing/vestibular/ear MP:0005377 9.91 CHRD DLX5 DLX6 OTX1 OTX2 PGAP1
6 respiratory system MP:0005388 9.76 CHRD DLX5 DLX6 OTX2 PGAP1 PRRX1
7 skeleton MP:0005390 9.7 CHRD DDHD1 DLX5 DLX6 OTX1 OTX2
8 taste/olfaction MP:0005394 8.92 CHRD DLX5 OTX2 SHH

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 Approved, Vet_approved 55-56-1 2713 9552079
2 Anesthetics
3 Pharmaceutical Solutions
4 Anticoagulants
5 Chlorhexidine gluconate

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 A Modified Minimally Invasive Approach Towards Le Fort I Osteotomy: a Prospective Study Completed NCT02660216
3 First-In-Man Performance and Safety Evaluation of the CARLO® Device in Midface Osteotomies Completed NCT03901209
4 Transoral Versus Transbuccal Placement of Bicortical Screws During Orthognathic Surgery Completed NCT02658305
5 Evaluation of "Tent-Pole" Grafting Technique for Reconstruction of Mandibular Ridge Vertical Defects (Clinical and Radiographic Study) Completed NCT04192851
6 A Randomized Controlled Trial of the Accuracy of Maxillary Repositioning Using Personalized Titanium Plates vs CAD/CAM Surgical Splints in Orthognathic Surgery Completed NCT02914431
7 Prospective Registry of 3-dimensional Virtual Treatment Planning of Orthognathic Surgery Recruiting NCT02660021
8 Application of Virtual Mandibular Position in Temporomandibular Jont Reconstruction With Costochondral Graft in Children Jaw Deformity. Recruiting NCT03845088

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:

# Genetic test Affiliating Genes
1 Agnathia-Otocephaly Complex 29 PRRX1

Anatomical Context for Agnathia-Otocephaly Complex

MalaCards organs/tissues related to Agnathia-Otocephaly Complex:

40
Eye, Cerebellum, Trachea, Bone, Pituitary

Publications for Agnathia-Otocephaly Complex

Articles related to Agnathia-Otocephaly Complex:

(show top 50) (show all 93)
# Title Authors PMID Year
1
Recurrent agnathia-otocephaly caused by DNA replication slippage in PRRX1. 61 6 57
23444262 2013
2
Prenatal diagnosis and identification of heterozygous frameshift mutation in PRRX1 in an infant with agnathia-otocephaly. 61 57 6
22674740 2012
3
PRRX1 is mutated in a fetus with agnathia-otocephaly. 61 6 57
21294718 2011
4
Agnathia-otocephaly complex: report of three cases with involvement of two different Carnegie stages. 61 57 6
12244557 2002
5
PRRX1 is mutated in an otocephalic newborn infant conceived by consanguineous parents. 57 6
22211708 2012
6
Current perspectives on the etiology of agnathia-otocephaly. 61 57
20849990 2010
7
Otocephaly: report of five new cases and a literature review. 57 61
17438667 2006
8
Otocephaly, and pulmonary malformation association: two case reports. 61 57
16970034 2006
9
Genetic and developmental studies of a new mouse mutation that produces otocephaly. 61 57
4019727 1985
10
On the Genetics of Subnormal Development of the Head (Otocephaly) in the Guinea Pig. 57 61
17246734 1934
11
Auriculo-condylar syndrome: additional patients. 57
12244558 2002
12
Transmission of the dysgnathia complex from mother to daughter. 57
11102934 2000
13
Agnathia-holoprosencephaly-situs inversus. 57
10756350 2000
14
Functional equivalency between Otx2 and Otx1 in development of the rostral head. 57
9895322 1999
15
The paired-like homeo box gene MHox is required for early events of skeletogenesis in multiple lineages. 57
7758948 1995
16
Familial agnathia-holoprosencephaly caused by an inherited unbalanced translocation and not autosomal recessive inheritance. 57
2817007 1989
17
Familial agnathia-holoprosencephaly. 57
6846401 1983
18
Re-focusing on Agnathia-Otocephaly complex. 61
32643087 2021
19
Agnathia otocephaly: A case from the Katanga Copperbelt. 61
32639113 2020
20
Expanding the spectrum of SMAD3-related phenotypes to agnathia-otocephaly. 61
32100971 2020
21
Prenatal ultrasound findings of holoprosencephaly spectrum: Unusual associations. 61
31955448 2020
22
A de novo variant in OTX2 in a lamb with otocephaly. 61
31969185 2020
23
Surgical Approach in a Patient With Agnathia-Otocephaly Complex: Three-Stage Mandibular Distraction Protocol. 61
31634311 2020
24
Agnathia-microstomia-synotia syndrome (otocephaly). 61
32185147 2020
25
The location of the fetal ears: A hint for prenatal diagnosis of agnathia-otocephaly complex. 61
30756395 2019
26
External and computed tomography analysis of a strophocephalic lamb. 61
30853367 2019
27
First-Trimester Diagnosis of Agnathia-Otocephaly Complex: A Series of 4 Cases and Review of the Literature. 61
30171631 2019
28
Cyclopia: isolated and with agnathia-otocephaly complex. 61
28855214 2017
29
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
30
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
31
Otocephaly Complex: Case Report, Literature Review, and Ethical Considerations. 61
27258179 2016
32
Prenatal Diagnosis of Isolated Agnathia-Otocephaly: A Case Report and Review of the Literature. 61
27579201 2016
33
Severe Agnathia-Otocephaly Complex: Surgical Management and Longitudinal Follow-up From Birth Through Adulthood. 61
26517463 2015
34
Otocephaly: Agnathia- Microstomia-Synotia Syndrome- A Rare Congenital Anomaly. 61
26500912 2015
35
[Agnathia-otocephaly: post-mortem study of 2 cases and review of literatures]. 61
26705046 2015
36
Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2. 61
25589041 2015
37
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
38
Agnathia-otocephaly: prenatal diagnosis by two- and three-dimensional ultrasound and magnetic resonance imaging. Case report. 61
25463893 2014
39
The teratogenic effects of prenatal ethanol exposure are exacerbated by Sonic Hedgehog or GLI2 haploinsufficiency in the mouse. 61
24586787 2014
40
Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2. 61
24167467 2013
41
Prenatal diagnosis of agnathia-otocephaly using sonography and magnetic resonance imaging. 61
23887968 2013
42
Aprosencephaly with otocephaly in a lamb (Ovis aries). 61
22431914 2012
43
OTX2 mutations contribute to the otocephaly-dysgnathia complex. 61
22577225 2012
44
Agnathia-otocephaly complex: a case report and examination of the OTX2 and PRRX1 genes. 61
22198066 2012
45
[Prenatal diagnosis of isolated otocefalia. Usefulness of three-dimensional ultrasound]. 61
21966847 2011
46
Agnathia-otocephaly with holoprosencephaly on prenatal three-dimensional ultrasound. 61
21465602 2011
47
Otocephaly: Prenatal and postnatal imaging findings. 61
21977107 2011
48
Agnathia-synotia-microstomia (otocephaly): a case report in an African woman. 61
23457854 2010
49
A case of otocephaly with anencephaly and meningomyelocele. 61
20964124 2010
50
Prenatal diagnosis and molecular genetic studies on a new case of agnathia-otocephaly. 61
20594144 2010

Variations for Agnathia-Otocephaly Complex

ClinVar genetic disease variations for Agnathia-Otocephaly Complex:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRRX1 NM_022716.4(PRRX1):c.338T>C (p.Phe113Ser) SNV Pathogenic 29825 rs387906667 GRCh37: 1:170688963-170688963
GRCh38: 1:170719822-170719822
2 PRRX1 NM_022716.4(PRRX1):c.691G>C (p.Ala231Pro) SNV Pathogenic 29826 rs1571354325 GRCh37: 1:170705280-170705280
GRCh38: 1:170736139-170736139
3 PRRX1 NM_022716.4(PRRX1):c.269del (p.Lys90fs) Deletion Pathogenic 50496 rs398122375 GRCh37: 1:170688888-170688888
GRCh38: 1:170719747-170719747
4 PRRX1 NM_022716.4(PRRX1):c.266_269dup (p.Arg92fs) Duplication Pathogenic 50497 rs398122375 GRCh37: 1:170688887-170688888
GRCh38: 1:170719746-170719747
5 PRRX1 NM_022716.4(PRRX1):c.317T>C (p.Leu106Pro) SNV Likely pathogenic 982406 GRCh37: 1:170688942-170688942
GRCh38: 1:170719801-170719801
6 PRRX1 NM_022716.4(PRRX1):c.343C>T (p.Arg115Trp) SNV Uncertain significance 587496 rs756620309 GRCh37: 1:170688968-170688968
GRCh38: 1:170719827-170719827

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

72
# 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
Show member pathways
11.13 PIGW PIGN PGAP1
2 10.63 SHH OTX2
3
Show member pathways
10.41 PIGW PIGN PGAP1

GO Terms for Agnathia-Otocephaly Complex

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.07 SHH PRRX2 PRRX1 OTX2 OTX1 DLX6
2 multicellular organism development GO:0007275 10.03 SHH PRRX2 PRRX1 OTX2 OTX1 DLX6
3 skeletal system development GO:0001501 9.74 DLX6 DLX5 CHRD
4 forebrain development GO:0030900 9.69 SHH OTX2 OTX1
5 midbrain development GO:0030901 9.63 SHH OTX2 OTX1
6 embryonic pattern specification GO:0009880 9.58 SHH PGAP1
7 positive regulation of mesenchymal cell proliferation GO:0002053 9.58 SHH PRRX1 CHRD
8 dopaminergic neuron differentiation GO:0071542 9.56 SHH OTX2
9 roof of mouth development GO:0060021 9.56 SHH PRRX1 DLX6 DLX5
10 preassembly of GPI anchor in ER membrane GO:0016254 9.55 PIGW PIGN
11 embryo development GO:0009790 9.54 DLX6 DLX5
12 head development GO:0060322 9.54 PGAP1 DLX6 DLX5
13 anatomical structure formation involved in morphogenesis GO:0048646 9.5 SHH DLX6 DLX5
14 forebrain regionalization GO:0021871 9.49 SHH PGAP1
15 GPI anchor metabolic process GO:0006505 9.48 PIGW PGAP1
16 inner ear morphogenesis GO:0042472 9.46 PRRX1 OTX1 DLX6 DLX5
17 embryonic limb morphogenesis GO:0030326 9.26 SHH PRRX1 DLX6 DLX5
18 GPI anchor biosynthetic process GO:0006506 8.92 PIGW PIGN PGAP1 MPPE1

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.85 PRRX2 PRRX1 OTX2 OTX1 DLX6 DLX5
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.73 PRRX2 PRRX1 OTX2 OTX1 DLX6 DLX5
3 hydrolase activity GO:0016787 9.7 TEX30 SHH PGAP1 MPPE1 DDHD1 AADACL4
4 glycosaminoglycan binding GO:0005539 9.32 SHH ABI3BP
5 sequence-specific double-stranded DNA binding GO:1990837 9.02 PRRX2 OTX2 OTX1 DLX6 DLX5
6 HMG box domain binding GO:0071837 8.96 PRRX1 DLX5

Sources for Agnathia-Otocephaly Complex

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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