MCID: AML052
MIFTS: 11

Amelogenesis Imperfecta-Gingival Hyperplasia Syndrome

Categories: Oral diseases, Rare diseases

Aliases & Classifications for Amelogenesis Imperfecta-Gingival Hyperplasia Syndrome

MalaCards integrated aliases for Amelogenesis Imperfecta-Gingival Hyperplasia Syndrome:

Name: Amelogenesis Imperfecta-Gingival Hyperplasia Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
amelogenesis imperfecta-gingival hyperplasia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

Classifications:

Orphanet: 59  
Rare odontological diseases


Summaries for Amelogenesis Imperfecta-Gingival Hyperplasia Syndrome

MalaCards based summary : Amelogenesis Imperfecta-Gingival Hyperplasia Syndrome An important gene associated with Amelogenesis Imperfecta-Gingival Hyperplasia Syndrome is FAM20A (FAM20A, Golgi Associated Secretory Pathway Pseudokinase). Related phenotypes are gingival fibromatosis and delayed eruption of teeth

Related Diseases for Amelogenesis Imperfecta-Gingival Hyperplasia Syndrome

Symptoms & Phenotypes for Amelogenesis Imperfecta-Gingival Hyperplasia Syndrome

Human phenotypes related to Amelogenesis Imperfecta-Gingival Hyperplasia Syndrome:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gingival fibromatosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000169
2 delayed eruption of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000684
3 amelogenesis imperfecta 59 32 hallmark (90%) Very frequent (99-80%) HP:0000705
4 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
5 subcutaneous nodule 59 32 hallmark (90%) Very frequent (99-80%) HP:0001482
6 pulp stones 59 32 hallmark (90%) Very frequent (99-80%) HP:0003771
7 thick eyebrow 59 32 occasional (7.5%) Occasional (29-5%) HP:0000574
8 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
9 abnormality of the eyebrow 59 Occasional (29-5%)

Drugs & Therapeutics for Amelogenesis Imperfecta-Gingival Hyperplasia Syndrome

Search Clinical Trials , NIH Clinical Center for Amelogenesis Imperfecta-Gingival Hyperplasia Syndrome

Genetic Tests for Amelogenesis Imperfecta-Gingival Hyperplasia Syndrome

Anatomical Context for Amelogenesis Imperfecta-Gingival Hyperplasia Syndrome

Publications for Amelogenesis Imperfecta-Gingival Hyperplasia Syndrome

Variations for Amelogenesis Imperfecta-Gingival Hyperplasia Syndrome

Expression for Amelogenesis Imperfecta-Gingival Hyperplasia Syndrome

Search GEO for disease gene expression data for Amelogenesis Imperfecta-Gingival Hyperplasia Syndrome.

Pathways for Amelogenesis Imperfecta-Gingival Hyperplasia Syndrome

GO Terms for Amelogenesis Imperfecta-Gingival Hyperplasia Syndrome

Sources for Amelogenesis Imperfecta-Gingival Hyperplasia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....