MSeqDR Mitochondrial Disease Portal


 
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MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:8740
Name:agnathia-otocephaly complex
Definition:Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.
Alternative IDs:202650
ParentIDs:
TreeNumbers:
Synonyms:agnathia-holoprosencephaly; agnathia-holoprosencephaly-situs inversus syndrome; agnathia-otocephaly complex; agnathia-otocephaly complex; AGOTC; AGOTC; Dysgnathia Complex agnathia-holoprosencephaly; dysgnathia complex agnathia-holoprosencephaly; holoprosencephaly-agnathia; otocephaly
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM: 202650;
MSeqDR LSDB:  
Genes: PRRX1; TGM5;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000007Autosomal recessive inheritance
3 HP:0000478Abnormality of the eye
NAMDC:  Ophthalmologic
4 HP:0000356Abnormality of the outer ear
5 HP:0001274Agenesis of corpus callosum
6 HP:0012730Aglossia
7 HP:0000175Cleft palate
8 HP:0000405Conductive hearing impairment
9 HP:0000494Downslanted palpebral fissures
10 HP:0001360Holoprosencephaly
11 HP:0005349Hypoplasia of the epiglottis
12 HP:0008749Laryngeal hypoplasia
13 HP:0009939Mandibular aplasia
14 HP:0000171Microglossia
15 HP:0000347Micrognathia
16 HP:0000160Narrow mouth
17 HP:0003812Phenotypic variability
18 HP:0002098Respiratory distress
19 HP:0001696Situs inversus totalis
20 HP:0100663Synotia
21 HP:0002779Tracheomalacia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_022716.4(PRRX1):c.266_269dup (p.Arg92fs)5396PRRX1Pathogenic398122375RCV000043530; NMONDO:MONDO:0008740,MedGen:C0265242,OMIM:202650, Orphanet:9901170688887170688888NC_000001.10:g.170688891_170688894dupAAAAClinGen:CA263215,OMIM:167420.0004C1876185 202650 Dysgnathia complex;
NM_022716.4(PRRX1):c.269del (p.Lys90fs)5396PRRX1Pathogenic398122375RCV000043529; NMONDO:MONDO:0008740,MedGen:C0265242,OMIM:202650, Orphanet:9901170688888170688888NC_000001.10:g.170688894delClinGen:CA263214,OMIM:167420.0003
NM_022716.4(PRRX1):c.338T>C (p.Phe113Ser)5396PRRX1Pathogenic387906667RCV000022701; NMONDO:MONDO:0008740,MedGen:C0265242,OMIM:202650, Orphanet:99011706889631706889631:g.170688963T>CClinGen:CA259669,UniProtKB:P54821#VAR_066414,OMIM:167420.0001C1876185 202650 Dysgnathia complex;
NM_022716.4(PRRX1):c.691G>C (p.Ala231Pro)5396PRRX1Pathogenic1571354325RCV000022702; NMONDO:MONDO:0008740,MedGen:C0265242,OMIM:202650, Orphanet:99011707052801707052801:g.170705280G>COMIM:167420.0002C1876185 202650 Dysgnathia complex;
NM_022716.4(PRRX1):c.317T>C (p.Leu106Pro)5396PRRX1Likely pathogenic1655023196RCV001261984; NMONDO:MONDO:0008740,MedGen:C0265242,OMIM:202650, Orphanet:99011706889421706889421:g.170688942T>C-
NM_022716.4(PRRX1):c.343C>T (p.Arg115Trp)5396PRRX1Uncertain significance756620309RCV000714679; NMONDO:MONDO:0008740,MedGen:C0265242,OMIM:202650, Orphanet:9901170688968170688968NC_000001.10:g.170688968C>T-
NM_022716.4(PRRX1):c.551C>T (p.Ala184Val)5396PRRX1Uncertain significance-1RCV003130344; NMONDO:MONDO:0008740,MedGen:C0265242,OMIM:202650, Orphanet:9901170695494170695494NC_000001.10:g.170695494C>T-
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