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 ⁵⁸ ¹³ ⁴¹

Dentinogenesis Imperfecta - Shield's Type Iii ³⁰ ⁶

Brandywine Type Dentinogenesis Imperfecta ⁵⁸ ⁷⁶

Dentinogenesis Imperfecta, Shields Type 3 ⁶⁰ ⁷⁶

Dgi-Iii ⁵⁸ ⁵⁶

Dentinogenesis Imperfecta Type 3 ⁶⁰

Dgi3 ⁷⁶

Characteristics:

Orphanet epidemiological data:

⁶⁰

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

OMIM:

⁵⁸

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:

³³

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: ³⁵

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: ⁶⁰

Rare odontological diseases

External Ids:

OMIM ⁵⁸ 125500

MeSH ⁴⁵ D003811

ICD10 via Orphanet ³⁵ K00.5

UMLS via Orphanet ⁷⁵ C0399378

Orphanet ⁶⁰ ORPHA166265

MedGen ⁴³ C0399378

SNOMED-CT via HPO ⁷⁰ 196286005 263681008 67504007 more

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Summaries for Dentinogenesis Imperfecta, Shields Type Iii

UniProtKB/Swiss-Prot : ⁷⁶ 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 dentinogenesis imperfecta - shield's type iii, 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

Human phenotypes related to Dentinogenesis Imperfecta, Shields Type Iii:

³³

#	Description	HPO Source Accession
1	dentinogenesis imperfecta ³³	HP:0000703
2	shell teeth ³³	HP:0000694
3	periapical bone loss ³³	HP:0000700

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

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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

Genetic tests related to Dentinogenesis Imperfecta, Shields Type Iii:

#	Genetic test	Affiliating Genes
1	Dentinogenesis Imperfecta - Shield's Type Iii ³⁰	DSPP

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Anatomical Context for Dentinogenesis Imperfecta, Shields Type Iii

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

⁴²

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	1669.56	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ Novoseek inferred ⁵⁶	11175790 15592686 22392858 (more) 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:

⁷⁶

#	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

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⁴⁵ MeSH

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⁵³ NIH Clinical Center

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⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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

Human phenotypes related to Dentinogenesis Imperfecta, Shields Type Iii:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Dentinogenesis Imperfecta, Shields Type Iii

Genetic Tests for Dentinogenesis Imperfecta, Shields Type Iii

Genetic tests related to 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