Dentinogenesis Imperfecta, Shields Type Iii disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Dentinogenesis Imperfecta, Shields Type Iii

MalaCards integrated aliases for Dentinogenesis Imperfecta, Shields Type Iii:

Name: Dentinogenesis Imperfecta, Shields Type Iii ⁵⁷ ¹³ ⁴⁰

Brandywine Type Dentinogenesis Imperfecta ⁵⁷ ⁷⁵

Dentinogenesis Imperfecta, Shields Type 3 ⁵⁹ ⁷⁵

Dgi-Iii ⁵⁷ ⁵⁵

Dentinogenesis Imperfecta Type 3 ⁵⁹

Dgi3 ⁷⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

dentinogenesis imperfecta type 3
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
shields classification -
type 1 - associated with osteogenesis imperfecta
type 2 - hereditary opalescent dentin, not associated with bone defect
type 3 - brandywine isolate opalescent dentin
occurs in a southern maryland tri-racial inbred population known as the "brandywine isolate"

HPO:

³²

dentinogenesis imperfecta, shields type iii:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the digestive system

Diseases of oral cavity, salivary glands and jaws

Disorders of tooth development and eruption

Hereditary disturbances in tooth structure, not elsewhere classified

Orphanet: ⁵⁹

Rare odontological diseases

External Ids:

OMIM ⁵⁷ 125500

Orphanet ⁵⁹ ORPHA166265

UMLS via Orphanet ⁷⁴ C0399378

ICD10 via Orphanet ³⁴ K00.5

MedGen ⁴² C0399378

MeSH ⁴⁴ D003811

SNOMED-CT via HPO ⁶⁹ 263681008 67504007 81407003 more

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Summaries for Dentinogenesis Imperfecta, Shields Type Iii

UniProtKB/Swiss-Prot : ⁷⁵ Dentinogenesis imperfecta, Shields type 3: A form of dentinogenesis imperfecta, an autosomal dominant dentin disorder characterized by amber-brown, opalescent teeth that fracture and shed their enamel during mastication, thereby exposing the dentin to rapid wear. Radiographically, the crown appears bulbous and pulpal obliteration is common. The pulp chambers are initially larger than normal prior and immediately after tooth eruption, and then progressively close down to become almost obliterated by abnormal dentin formation. Roots are short and thin. Both primary and permanent teeth are affected. DGI3 teeth typically manifest multiple periapical radiolucencies. DGI3 is not associated with osteogenesis imperfecta.

MalaCards based summary : Dentinogenesis Imperfecta, Shields Type Iii, also known as brandywine type dentinogenesis imperfecta, is related to dentinogenesis imperfecta type 3. An important gene associated with Dentinogenesis Imperfecta, Shields Type Iii is DSPP (Dentin Sialophosphoprotein). Affiliated tissues include bone, and related phenotypes are dentinogenesis imperfecta and shell teeth

Description from OMIM: 125500

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Related Diseases for Dentinogenesis Imperfecta, Shields Type Iii

Diseases related to Dentinogenesis Imperfecta, Shields Type Iii via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	dentinogenesis imperfecta type 3	11.5

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Symptoms & Phenotypes for Dentinogenesis Imperfecta, Shields Type Iii

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Teeth:
periapical radiolucencies
primary and secondary teeth affected
amber-opalescent colored teeth (primary and secondary)
marked attrition (primary and secondary)
enamel pitting (secondary)
more

Head And Neck Mouth:
anterior openbite

Clinical features from OMIM:

125500

Human phenotypes related to Dentinogenesis Imperfecta, Shields Type Iii:

³²

#	Description	HPO Source Accession
1	dentinogenesis imperfecta ³²	HP:0000703
2	shell teeth ³²	HP:0000694
3	periapical bone loss ³²	HP:0000700

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Drugs & Therapeutics for Dentinogenesis Imperfecta, Shields Type Iii

Search Clinical Trials , NIH Clinical Center for Dentinogenesis Imperfecta, Shields Type Iii

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Genetic Tests for Dentinogenesis Imperfecta, Shields Type Iii

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Anatomical Context for Dentinogenesis Imperfecta, Shields Type Iii

MalaCards organs/tissues related to Dentinogenesis Imperfecta, Shields Type Iii:

⁴¹

Bone

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Publications for Dentinogenesis Imperfecta, Shields Type Iii

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Genes for Dentinogenesis Imperfecta, Shields Type Iii

Genes related to Dentinogenesis Imperfecta, Shields Type Iii (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	DSPP	Dentin Sialophosphoprotein	Protein Coding	1569.56	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Novoseek inferred ⁵⁵	15690376 10371253 17452557

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Variations for Dentinogenesis Imperfecta, Shields Type Iii

UniProtKB/Swiss-Prot genetic disease variations for Dentinogenesis Imperfecta, Shields Type Iii:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	DSPP	p.Val18Phe	VAR_012281	rs121912987
2	DSPP	p.Pro17Leu	VAR_070252

ClinVar genetic disease variations for Dentinogenesis Imperfecta, Shields Type Iii:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	DSPP	NM_014208.3(DSPP): c.52G> T (p.Val18Phe)	single nucleotide variant	Pathogenic	rs121912987	GRCh37	Chromosome 4, 88533257: 88533257
2	DSPP	NM_014208.3(DSPP): c.52G> T (p.Val18Phe)	single nucleotide variant	Pathogenic	rs121912987	GRCh38	Chromosome 4, 87612105: 87612105

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Expression for Dentinogenesis Imperfecta, Shields Type Iii

Search GEO for disease gene expression data for Dentinogenesis Imperfecta, Shields Type Iii.

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Pathways for Dentinogenesis Imperfecta, Shields Type Iii

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GO Terms for Dentinogenesis Imperfecta, Shields Type Iii

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Sources for Dentinogenesis Imperfecta, Shields Type Iii

¹ BioSystems

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²⁰ GeneAnalytics

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³⁶ IUPHAR

³⁷ KEGG

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⁴¹ MalaCards

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⁴⁴ MeSH

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⁴⁶ MGI

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⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

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⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

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⁶⁶ Reactome

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Dentinogenesis Imperfecta, Shields Type Iii (DGI3)

Aliases & Classifications for Dentinogenesis Imperfecta, Shields Type Iii

MalaCards integrated aliases for Dentinogenesis Imperfecta, Shields Type Iii:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Dentinogenesis Imperfecta, Shields Type Iii

Related Diseases for Dentinogenesis Imperfecta, Shields Type Iii

Diseases related to Dentinogenesis Imperfecta, Shields Type Iii via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Dentinogenesis Imperfecta, Shields Type Iii

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Dentinogenesis Imperfecta, Shields Type Iii:

Drugs & Therapeutics for Dentinogenesis Imperfecta, Shields Type Iii

Genetic Tests for Dentinogenesis Imperfecta, Shields Type Iii

Anatomical Context for Dentinogenesis Imperfecta, Shields Type Iii

MalaCards organs/tissues related to Dentinogenesis Imperfecta, Shields Type Iii:

Publications for Dentinogenesis Imperfecta, Shields Type Iii

Genes for Dentinogenesis Imperfecta, Shields Type Iii

Genes related to Dentinogenesis Imperfecta, Shields Type Iii (1 elite genes):

Variations for Dentinogenesis Imperfecta, Shields Type Iii

UniProtKB/Swiss-Prot genetic disease variations for Dentinogenesis Imperfecta, Shields Type Iii:

ClinVar genetic disease variations for Dentinogenesis Imperfecta, Shields Type Iii:

Expression for Dentinogenesis Imperfecta, Shields Type Iii

Pathways for Dentinogenesis Imperfecta, Shields Type Iii

GO Terms for Dentinogenesis Imperfecta, Shields Type Iii

Sources for Dentinogenesis Imperfecta, Shields Type Iii