Amelogenesis imperfecta and gingival hyperplasia syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: AIGFS
Number of Symptoms 17
OrphanetNr: 171836
OMIM Id: 614253
ICD-10: K00.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Rare odontal or periodontal disorder
 -Rare genetic disease
 -Rare odontologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000169) Gingival fibromatosis 14 / 7739
2
(HPO:0000574) Thick eyebrow Occasional [Orphanet] 96 / 7739
3
(HPO:0000534) Abnormality of the eyebrow Occasional [Orphanet] 39 / 7739
4
(HPO:0000168) Abnormality of the gingiva Very frequent [Orphanet] 51 / 7739
5
(HPO:0000212) Gingival overgrowth 43 / 7739
6
(HPO:0000705) Amelogenesis imperfecta 25 / 7739
7
(HPO:0000682) Abnormality of dental enamel Very frequent [Orphanet] 102 / 7739
8
(HPO:0000706) Unerupted tooth 10 / 7739
9
(HPO:0011073) Abnormality of dental color 24 / 7739
10
(HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
11
(HPO:0001031) Subcutaneous lipoma Very frequent [Orphanet] 112 / 7739
12
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
13
(OMIM) Amelogenesis imperfecta, hypoplastic 5 / 7739
14
(OMIM) Normal kidney function 1 / 7739
15
(OMIM) Coronal and radicular pulpal calcifications 1 / 7739
16
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
17
(OMIM) Normal serum calcium 9 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Amelogenesis imperfecta and gingival fibromatosis syndrome is an autosomal recessive condition characterized by mild gingival fibromatosis and dental anomalies, including hypoplastic amelogenesis imperfecta, intrapulpal calcifications, delay of tooth eruption, hypodontia/oligodontia, pericoronal radiolucencies, and unerupted teeth (Martelli-Junior et al., ...
Clinical Description OMIM Martelli-Junior et al. (2008) described 4 patients in a 3-generation, consanguineous family with a syndrome of gingival fibromatosis and dental anomalies. The patients, 3 females and a male, had yellow teeth with thin enamel of normal hardness, gingival ...
Molecular genetics OMIM By whole-exome sequencing, O'Sullivan et al. (2011) identified a homozygous nonsense mutation in exon 2 of the FAM20A gene (R136X; 611062.0001) segregating with the syndrome in the family reported by Martelli-Junior et al. (2008). The mutation was not ...