MCID: PRG122
MIFTS: 23

Prognathism, Mandibular

Categories: Fetal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Prognathism, Mandibular

MalaCards integrated aliases for Prognathism, Mandibular:

Name: Prognathism, Mandibular 57
Habsburg Jaw 20 6
Autosomal Dominant Prognathism 58
Prognathism Mandibular 20
'habsburg Jaw' 57
'hapsburg Jaw' 57
Hapsburg Jaw 20

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
incomplete penetrance

Inheritance:
autosomal dominant


HPO:

31
prognathism, mandibular:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 176700
ICD10 via Orphanet 33 K07.1
Orphanet 58 ORPHA2964
MedGen 41 C0399526

Summaries for Prognathism, Mandibular

OMIM® : 57 Mandibular prognathism is a dentofacial anomaly characterized by protrusion of the mandible, with lower incisors often overlapping the upper incisors. The protruding lower jaw is caused by a forward positioning of the mandible itself (summary by Stiles and Luke, 1953). (176700) (Updated 05-Mar-2021)

MalaCards based summary : Prognathism, Mandibular, also known as habsburg jaw, is related to bone resorption disease and craniosynostosis. An important gene associated with Prognathism, Mandibular is DPYD (Dihydropyrimidine Dehydrogenase). Related phenotypes are open bite and mandibular prognathia

Related Diseases for Prognathism, Mandibular

Diseases related to Prognathism, Mandibular via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 bone resorption disease 10.1
2 craniosynostosis 10.1
3 overgrowth syndrome 10.1

Symptoms & Phenotypes for Prognathism, Mandibular

Human phenotypes related to Prognathism, Mandibular:

58 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 open bite 58 31 hallmark (90%) Very frequent (99-80%) HP:0010807
2 mandibular prognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000303
3 everted lower lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000232
4 craniosynostosis 31 occasional (7.5%) HP:0001363
5 thick lower lip vermilion 31 HP:0000179
6 ectropion of lower eyelids 31 HP:0007651

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Face:
mandibular prognathism
flat malar areas

Head And Neck Mouth:
thick lower lip

Head And Neck Eyes:
mildly everted lower eyelids

Clinical features from OMIM®:

176700 (Updated 05-Mar-2021)

Drugs & Therapeutics for Prognathism, Mandibular

Search Clinical Trials , NIH Clinical Center for Prognathism, Mandibular

Genetic Tests for Prognathism, Mandibular

Anatomical Context for Prognathism, Mandibular

Publications for Prognathism, Mandibular

Articles related to Prognathism, Mandibular:

(show all 22)
# Title Authors PMID Year
1
The Habsburg Jaw-re-examined. 57 61
24942320 2014
2
Genetic landmarks through philately--the Habsburg jaw. 57 61
9831338 1998
3
Another family with the 'Habsburg jaw'. 57 61
3070045 1988
4
A medical history of the Spanish Habsburgs. As traced in portraits. 61 57
330890 1977
5
The Habsburg jaw. 57 61
4881391 1968
6
Major gene and multifactorial inheritance of mandibular prognathism. 57
18074368 2008
7
On the genetics of mandibular prognathism: analysis of large European noble families. 57
8445614 1993
8
A Royal Family Heritage: The Habsburg Jaw. 61
32083497 2020
9
Is the "Habsburg jaw" related to inbreeding? 61
31786955 2019
10
Rectangular body ostectomy for the treatment of severe mandibular prognathism. 61
22627429 2012
11
Retrognathic maxilla in "Habsburg jaw". Skeletofacial analysis of Joanna of Austria (1547-1578). 61
21942721 2012
12
Skeletal components of class III malocclusions and compensation mechanisms. 61
18699972 2008
13
Effects of activator and high-pull headgear combination therapy: skeletal, dentoalveolar, and soft tissue profile changes. 61
17488997 2007
14
Craniofacial changes in Icelandic children between 6 and 16 years of age - a longitudinal study. 61
16230326 2006
15
Segregation analysis of mandibular prognathism in Libya. 61
12821712 2003
16
Genetic disorders in portraits. 61
8985496 1996
17
Craniofacial patterning in Klinefelter (47 XXY) adults. 61
8339759 1993
18
The Habsburgs and the "Habsburg jaw". 61
6751439 1982
19
Evolutionary dental changes. 61
1171628 1975
20
The Habsburg jaw. 61
4927696 1971
21
[The surgical treatment of prognathism, mandibular retrognathism and superior prognathism]. 61
4867289 1967
22
[Surgery of prognathism. Mandibular symphysectomy]. 61
5844718 1965

Variations for Prognathism, Mandibular

ClinVar genetic disease variations for Prognathism, Mandibular:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DPYD NM_000110.4(DPYD):c.1905+1G>A SNV Pathogenic 432 rs3918290 1:97915614-97915614 1:97450058-97450058
2 GPR75-ASB3 NM_015701.5(ERLEC1):c.1448A>G (p.Asn483Ser) SNV Likely pathogenic 830379 2:54045102-54045102 2:53817965-53817965
3 GPR75-ASB3 NM_015701.5(ERLEC1):c.419C>T (p.Thr140Ile) SNV Likely pathogenic 830378 2:54024722-54024722 2:53797585-53797585
4 GPR75-ASB3 NM_015701.5(ERLEC1):c.419C>G (p.Thr140Ser) SNV Likely pathogenic 830377 2:54024722-54024722 2:53797585-53797585
5 GPR75-ASB3 NM_015701.5(ERLEC1):c.1237C>T (p.His413Tyr) SNV Likely pathogenic 830376 2:54041690-54041690 2:53814553-53814553
6 GNS NM_002076.4(GNS):c.1594C>G (p.Pro532Ala) SNV Uncertain significance 598985 rs202228620 12:65110586-65110586 12:64716806-64716806
7 AGPAT2 Duplication Uncertain significance 559399 9:139362970-139607528
8 DNMT3A GRCh37/hg19 2p23.3(chr2:24807000-25700000)x3 copy number gain Uncertain significance 559502 2:24807000-25700000
9 DEAF1 NM_021008.3(DEAF1):c.667G>A (p.Gly223Ser) SNV Likely benign 373980 rs1057518811 11:686995-686995 11:686995-686995

Expression for Prognathism, Mandibular

Search GEO for disease gene expression data for Prognathism, Mandibular.

Pathways for Prognathism, Mandibular

GO Terms for Prognathism, Mandibular

Sources for Prognathism, Mandibular

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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