PedAM

Pediatric Disease Annotations & Medicines


	anodontia

Disease ID	324
Disease	anodontia
Definition	Congenital absence of the teeth; it may involve all (total anodontia) or only some of the teeth (partial anodontia, hypodontia), and both the deciduous and the permanent dentition, or only teeth of the permanent dentition. (Dorland, 27th ed)
Synonym	agomphiasis agomphosis anodontia (disorder) anodontia [disease/finding] anodontia nos anodontia nos (finding) anodontia vera anodontia, nos anodontism anodontism, nos complete absence of teeth complete agenesis of all teeth complete anodontia complete congenital absence of teeth complete congenital absence of teeth (disorder) complete developmental absence of teeth congenital absence of teeth congenital absence of teeth, nos congenital complete absence of teeth congenital edentia congenital edentia, nos dental agenesis developmental absence of tooth developmental absence of tooth (disorder) failure of development of all teeth total anodontia total anodontia of permanent and deciduous teeth
Orphanet	ORPHANET:99797
DOID	DOID:13714
ICD10	ICD10CM:K00.0
UMLS	C0399352
MeSH	D000848
SNOMED-CT	SNOMEDCT_US_2016_09_01:16958000;SNOMEDCT_US_2016_09_01:26624006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:4) C0013575 \| ectodermal dysplasia \| 5 C0162359 \| hypohidrotic ectodermal dysplasia \| 2 C0031099 \| periodontitis \| 1 C0024214 \| lymphangiectasia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) LTBP3 \| 4054 \| CTD_human PAX9 \| 5083 \| CTD_human IRX5 \| 10265 \| CTD_human MSX1 \| 4487 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:28) 80326 \| WNT10A \| DISEASES 10913 \| EDAR \| DISEASES 9313 \| MMP20 \| DISEASES 23314 \| SATB2 \| DISEASES 8626 \| TP63 \| DISEASES 2121 \| EVC \| DISEASES 2321 \| FLT1 \| DISEASES 1834 \| DSPP \| DISEASES 2697 \| GJA1 \| DISEASES 10818 \| FRS2 \| DISEASES 84168 \| ANTXR1 \| DISEASES 8313 \| AXIN2 \| DISEASES 5308 \| PITX2 \| DISEASES 9622 \| KLK4 \| DISEASES 128178 \| EDARADD \| DISEASES 64386 \| MMP25 \| DISEASES 132884 \| EVC2 \| DISEASES 5083 \| PAX9 \| DISEASES 8517 \| IKBKG \| DISEASES 113452 \| TMEM54 \| DISEASES 1896 \| EDA \| DISEASES 249 \| ALPL \| DISEASES 265 \| AMELX \| DISEASES 4487 \| MSX1 \| DISEASES 6387 \| CXCL12 \| DISEASES 10117 \| ENAM \| DISEASES 2260 \| FGFR1 \| DISEASES 83695 \| RHNO1 \| DISEASES
Locus	(Waiting for update.)

Disease ID	324
Disease	anodontia
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:1) HP:0000674 \| Anodontia
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:7) HP:0000968 \| Ectodermal dysplasia \| 5 HP:0007529 \| Hidrotic ectodermal dysplasia \| 4 HP:0007476 \| Anhidrotic ectodermal dysplasia \| 2 HP:0007607 \| Hypohidrotic ectodermal dysplasia \| 2 HP:0000699 \| Diastasis of the teeth \| 1 HP:0000689 \| Misalignment of upper and lower dental arches \| 1 HP:0000704 \| Pyorrhea \| 1

Disease ID	324
Disease	anodontia
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:4)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121909635	16606836	2260	FGFR1	umls:C0399352	BeFree	Heterozygous FGFR1 mutations were found in three of seven unrelated nIHH probands with normal MRI of the olfactory system: (i) G237S in an nIHH female and a KS brother; (ii) (P722H and N724K) in an nIHH male missing two teeth and his mother with isolated hyposmia; and (iii) Q680X in a nIHH male with cleft lip/palate and missing teeth, his brother with nIHH, and his father with delayed puberty.	0.000271442	2006	FGFR1	8	38426158	C	T
rs121909636	16606836	2260	FGFR1	umls:C0399352	BeFree	Heterozygous FGFR1 mutations were found in three of seven unrelated nIHH probands with normal MRI of the olfactory system: (i) G237S in an nIHH female and a KS brother; (ii) (P722H and N724K) in an nIHH male missing two teeth and his mother with isolated hyposmia; and (iii) Q680X in a nIHH male with cleft lip/palate and missing teeth, his brother with nIHH, and his father with delayed puberty.	0.000271442	2006	FGFR1	8	38414569	G	A
rs267606805	16606836	2260	FGFR1	umls:C0399352	BeFree	Heterozygous FGFR1 mutations were found in three of seven unrelated nIHH probands with normal MRI of the olfactory system: (i) G237S in an nIHH female and a KS brother; (ii) (P722H and N724K) in an nIHH male missing two teeth and his mother with isolated hyposmia; and (iii) Q680X in a nIHH male with cleft lip/palate and missing teeth, his brother with nIHH, and his father with delayed puberty.	0.000271442	2006	FGFR1	8	38414173	G	T
rs267606806	16606836	2260	FGFR1	umls:C0399352	BeFree	Heterozygous FGFR1 mutations were found in three of seven unrelated nIHH probands with normal MRI of the olfactory system: (i) G237S in an nIHH female and a KS brother; (ii) (P722H and N724K) in an nIHH male missing two teeth and his mother with isolated hyposmia; and (iii) Q680X in a nIHH male with cleft lip/palate and missing teeth, his brother with nIHH, and his father with delayed puberty.	0.000271442	2006	FGFR1	8	38414166	G	C,A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0399352	tretinoin	D014212	302-79-4	anodontia	MESH:D000848	marker/mechanism	2114463

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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