MCID: TTH022
MIFTS: 12

Teeth, Congenital Absence of, with Taurodontia and Sparse Hair

Categories: Oral diseases, Rare diseases

Aliases & Classifications for Teeth, Congenital Absence of, with Taurodontia and Sparse Hair

MalaCards integrated aliases for Teeth, Congenital Absence of, with Taurodontia and Sparse Hair:

Name: Teeth, Congenital Absence of, with Taurodontia and Sparse Hair 56 52
Taurodontia, Absent Teeth, Sparse Hair Syndrome 52
Taurodontia, Absent Teeth, and Sparse Hair 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
teeth, congenital absence of, with taurodontia and sparse hair:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 272980
MedGen 41 C1848909

Summaries for Teeth, Congenital Absence of, with Taurodontia and Sparse Hair

NIH Rare Diseases : 52 Taurodontia, absent teeth, sparse hair syndrome is a rare condition that, as the name suggests, is primarily characterized by malformations of the primary and/or secondary molars (taurodontia); the absence of several teeth; and unusually sparse, slow-growing hair. The underlying cause of the condition is currently unknown. It appears to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Teeth, Congenital Absence of, with Taurodontia and Sparse Hair, is also known as taurodontia, absent teeth, sparse hair syndrome. Related phenotypes are taurodontia and sparse hair

More information from OMIM: 272980

Related Diseases for Teeth, Congenital Absence of, with Taurodontia and Sparse Hair

Symptoms & Phenotypes for Teeth, Congenital Absence of, with Taurodontia and Sparse Hair

Human phenotypes related to Teeth, Congenital Absence of, with Taurodontia and Sparse Hair:

31
# Description HPO Frequency HPO Source Accession
1 taurodontia 31 HP:0000679
2 sparse hair 31 HP:0008070
3 oligodontia 31 HP:0000677

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Teeth:
taurodontia
oligodontia

Skin Nails Hair Skin:
normal sweating

Skin Nails Hair Hair:
sparse hair

Head And Neck Mouth:
deep palatal fovea

Clinical features from OMIM:

272980

Drugs & Therapeutics for Teeth, Congenital Absence of, with Taurodontia and Sparse Hair

Search Clinical Trials , NIH Clinical Center for Teeth, Congenital Absence of, with Taurodontia and Sparse Hair

Genetic Tests for Teeth, Congenital Absence of, with Taurodontia and Sparse Hair

Anatomical Context for Teeth, Congenital Absence of, with Taurodontia and Sparse Hair

Publications for Teeth, Congenital Absence of, with Taurodontia and Sparse Hair

Articles related to Teeth, Congenital Absence of, with Taurodontia and Sparse Hair:

# Title Authors PMID Year
1
Malformation syndromes. A selected miscellany. 56
819054 1975
2
Oligodontia, taurodontia, and sparse hair growth--a syndrome. 56
4712958 1973
3
Taurodontism and concomitant hypodontia in siblings. 56
4502158 1972

Variations for Teeth, Congenital Absence of, with Taurodontia and Sparse Hair

Expression for Teeth, Congenital Absence of, with Taurodontia and Sparse Hair

Search GEO for disease gene expression data for Teeth, Congenital Absence of, with Taurodontia and Sparse Hair.

Pathways for Teeth, Congenital Absence of, with Taurodontia and Sparse Hair

GO Terms for Teeth, Congenital Absence of, with Taurodontia and Sparse Hair

Sources for Teeth, Congenital Absence of, with Taurodontia and Sparse Hair

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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