Prognathism, Mandibular disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Oral diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the digestive system

Diseases of oral cavity, salivary glands and jaws

Dentofacial anomalies [including malocclusion]

Anomalies of jaw-cranial base relationship

Orphanet: ⁵⁸

Developmental anomalies during embryogenesis

External Ids:

OMIM® ⁵⁷ 176700

ICD10 via Orphanet ³³ K07.1

Orphanet ⁵⁸ ORPHA2964

MedGen ⁴¹ C0399526

SNOMED-CT via HPO ⁶⁸ 109504005 22810007 263681008 more

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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

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Related Diseases for Prognathism, Mandibular

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

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

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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)

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Drugs & Therapeutics for Prognathism, Mandibular

Search Clinical Trials , NIH Clinical Center for Prognathism, Mandibular

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Genetic Tests for Prognathism, Mandibular

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Anatomical Context for Prognathism, Mandibular

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Publications for Prognathism, Mandibular

Articles related to Prognathism, Mandibular:

(show all 22)

#	Title	Authors	PMID	Year
1	The Habsburg Jaw-re-examined. ⁵⁷ ⁶¹	Peacock ZS...Kaban LB	24942320	2014
2	Genetic landmarks through philately--the Habsburg jaw. ⁵⁷ ⁶¹	Chudley AE	9831338	1998
3	Another family with the 'Habsburg jaw'. ⁵⁷ ⁶¹	Thompson EM...Winter RM	3070045	1988
4	A medical history of the Spanish Habsburgs. As traced in portraits. ⁶¹ ⁵⁷	Hodge GP	330890	1977
5	The Habsburg jaw. ⁵⁷ ⁶¹	Grabb WC...Oneal RM	4881391	1968
6	Major gene and multifactorial inheritance of mandibular prognathism. ⁵⁷	Cruz RM...Oliveira S	18074368	2008
7	On the genetics of mandibular prognathism: analysis of large European noble families. ⁵⁷	Wolff G...Sander H	8445614	1993
8	A Royal Family Heritage: The Habsburg Jaw. ⁶¹	Zamudio Martinez G...Zamudio Martinez A	32083497	2020
9	Is the "Habsburg jaw" related to inbreeding? ⁶¹	Vilas R...Alvarez G	31786955	2019
10	Rectangular body ostectomy for the treatment of severe mandibular prognathism. ⁶¹	Sencimen M...Olmez H	22627429	2012
11	Retrognathic maxilla in "Habsburg jaw". Skeletofacial analysis of Joanna of Austria (1547-1578). ⁶¹	Lippi D...Franchi L	21942721	2012
12	Skeletal components of class III malocclusions and compensation mechanisms. ⁶¹	Spalj S...Slaj M	18699972	2008
13	Effects of activator and high-pull headgear combination therapy: skeletal, dentoalveolar, and soft tissue profile changes. ⁶¹	Marsan G	17488997	2007
14	Craniofacial changes in Icelandic children between 6 and 16 years of age - a longitudinal study. ⁶¹	Thordarson A...Magnusson TE	16230326	2006
15	Segregation analysis of mandibular prognathism in Libya. ⁶¹	El-Gheriani AA...Marazita ML	12821712	2003
16	Genetic disorders in portraits. ⁶¹	Emery AE	8985496	1996
17	Craniofacial patterning in Klinefelter (47 XXY) adults. ⁶¹	Brown T...Townsend GC	8339759	1993
18	The Habsburgs and the "Habsburg jaw". ⁶¹	Loevy HT...Kowitz A	6751439	1982
19	Evolutionary dental changes. ⁶¹	Anderson BL...Popovich F	1171628	1975
20	The Habsburg jaw. ⁶¹	Hart GD	4927696	1971
21	[The surgical treatment of prognathism, mandibular retrognathism and superior prognathism]. ⁶¹	Trauner R	4867289	1967
22	[Surgery of prognathism. Mandibular symphysectomy]. ⁶¹	Spadafora A	5844718	1965

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Genes for Prognathism, Mandibular

Genes related to Prognathism, Mandibular (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	DPYD	Dihydropyrimidine Dehydrogenase	Protein Coding	400	Pathogenic ⁶
2	GPR75-ASB3	GPR75-ASB3 Readthrough	Protein Coding	25	Likely pathogenic ⁶

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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

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Expression for Prognathism, Mandibular

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

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Pathways for Prognathism, Mandibular

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GO Terms for Prognathism, Mandibular

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