MCID: GNT026
MIFTS: 34

Gnathodiaphyseal Dysplasia

Categories: Genetic diseases, Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Gnathodiaphyseal Dysplasia

MalaCards integrated aliases for Gnathodiaphyseal Dysplasia:

Name: Gnathodiaphyseal Dysplasia 53 24 55 71 36 28 13
Gdd 53 24 55 71
Osteogenesis Imperfecta with Unusual Skeletal Lesions 53 24 71
Gnathodiaphyseal Sclerosis 53 24 71
Osteogenesis Imperfecta, Levin Type 24 69
Levin Syndrome 2 24

Characteristics:

Orphanet epidemiological data:

55
gnathodiaphyseal dysplasia
Inheritance: Autosomal dominant;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
onset in first or second decade


HPO:

31
gnathodiaphyseal dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 166260
Orphanet 55 ORPHA53697
MedGen 39 C1833736
MeSH 41 D010013
KEGG 36 H00498
UMLS 69 C1833736

Summaries for Gnathodiaphyseal Dysplasia

UniProtKB/Swiss-Prot : 71 Gnathodiaphyseal dysplasia: Rare skeletal syndrome characterized by bone fragility, sclerosis of tubular bones, and cemento-osseous lesions of the jawbone. Patients experience frequent bone fractures caused by trivial accidents in childhood; however the fractures heal normally without bone deformity. The jaw lesions replace the tooth-bearing segments of the maxilla and mandible with fibrous connective tissues, including various amounts of cementum-like calcified mass, sometimes causing facial deformities. Patients also have a propensity for jaw infection and often suffer from purulent osteomyelitis-like symptoms, such as swelling of and pus discharge from the gums, mobility of the teeth, insufficient healing after tooth extraction and exposure of the lesions into the oral cavity.

MalaCards based summary : Gnathodiaphyseal Dysplasia, also known as gdd, is related to osteogenesis imperfecta levin type and endosteal hyperostosis, autosomal dominant, and has symptoms including osteopenia, scoliosis and bowing of the long bones. An important gene associated with Gnathodiaphyseal Dysplasia is ANO5 (Anoctamin 5). Affiliated tissues include bone and cortex, and related phenotype is craniofacial.

OMIM : 53 Gnathodiaphyseal dysplasia is an autosomal dominant generalized skeletal syndrome characterized by cementoosseous lesions of the jawbones, in conjunction with bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones (summary by Marconi et al., 2013). (166260)

Genetics Home Reference : 24 Gnathodiaphyseal dysplasia is a disorder that affects the bones. People with this condition have reduced bone mineral density (osteopenia), which causes the bones to be unusually fragile. As a result, affected individuals typically experience multiple bone fractures in childhood, often from mild trauma or with no apparent cause.

Related Diseases for Gnathodiaphyseal Dysplasia

Diseases related to Gnathodiaphyseal Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta levin type 11.5
2 endosteal hyperostosis, autosomal dominant 10.0
3 fibrous dysplasia 10.0

Symptoms & Phenotypes for Gnathodiaphyseal Dysplasia

Symptoms via clinical synopsis from OMIM:

53
Skeletal:
osteopenia
bone fragility
jaw lesions show fibroblasts in fibrous stromal tissue

Head And Neck Mouth:
jaw infection (osteomyelitis)

Skeletal Limbs:
leg bowing
diaphyseal bowing (radius, ulnae, tibiae, fibula)
diaphyseal cortical sclerosis

Head And Neck Face:
face deformity due to enlarged jaw bones

Skeletal Skull:
cemento-osseous lesions (maxilla and mandible)


Clinical features from OMIM:

166260

Human phenotypes related to Gnathodiaphyseal Dysplasia:

55 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopenia 55 31 frequent (33%) Frequent (79-30%) HP:0000938
2 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
3 bowing of the long bones 55 31 hallmark (90%) Very frequent (99-80%) HP:0006487
4 recurrent fractures 55 31 occasional (7.5%) Occasional (29-5%) HP:0002757
5 mandibular osteomyelitis 55 31 frequent (33%) Frequent (79-30%) HP:0007626
6 broad jaw 55 31 hallmark (90%) Very frequent (99-80%) HP:0012802
7 thickened cortex of long bones 55 31 hallmark (90%) Very frequent (99-80%) HP:0000935
8 increased susceptibility to fractures 31 HP:0002659
9 diaphyseal cortical sclerosis 31 HP:0005045

MGI Mouse Phenotypes related to Gnathodiaphyseal Dysplasia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.92 BAMBI COL1A1 NELL1 SLC6A5

Drugs & Therapeutics for Gnathodiaphyseal Dysplasia

Search Clinical Trials , NIH Clinical Center for Gnathodiaphyseal Dysplasia

Genetic Tests for Gnathodiaphyseal Dysplasia

Genetic tests related to Gnathodiaphyseal Dysplasia:

# Genetic test Affiliating Genes
1 Gnathodiaphyseal Dysplasia 28 ANO5

Anatomical Context for Gnathodiaphyseal Dysplasia

MalaCards organs/tissues related to Gnathodiaphyseal Dysplasia:

38
Bone, Cortex

Publications for Gnathodiaphyseal Dysplasia

Articles related to Gnathodiaphyseal Dysplasia:

(show all 17)
# Title Authors Year
1
Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5). ( 29175271 )
2018
2
Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia. ( 28176803 )
2017
3
Gain of function of TMEM16E/ANO5 scrambling activity caused by a mutation associated with gnathodiaphyseal dysplasia. ( 29124309 )
2017
4
Gnathodiaphyseal dysplasia: report of a family with a novel mutation of the ANO5 gene. ( 27068316 )
2016
5
Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies. ( 27216912 )
2016
6
A Novel ANO5 Mutation Causing Gnathodiaphyseal Dysplasia With High Bone Turnover Osteosclerosis. ( 27541832 )
2016
7
Gnathodiaphyseal Dysplasia: Surgical Treatment and Prosthetic Rehabilitation of 2 Members of the Same Family. ( 27376179 )
2016
8
Gnathodiaphyseal dysplasia presenting as polyostotic fibrous dysplasia. ( 25866257 )
2015
9
COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia? ( 24891183 )
2014
10
Gnathodiaphyseal dysplasia. ( 24776605 )
2014
11
Recurring gnathodiaphyseal dysplasia in two Russian brothers. ( 20005074 )
2010
12
Molecular characterization of GDD1/TMEM16E, the gene product responsible for autosomal dominant gnathodiaphyseal dysplasia. ( 17418107 )
2007
13
Gnathodiaphyseal dysplasia. ( 17189853 )
2007
14
Molecular cloning and characterization of the murine gnathodiaphyseal dysplasia gene GDD1. ( 15882990 )
2005
15
The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD). ( 15124103 )
2004
16
Autosomal dominant gnathodiaphyseal dysplasia maps to chromosome 11p14.3-15.1. ( 12619924 )
2003
17
Gnathodiaphyseal dysplasia: a syndrome of fibro-osseous lesions of jawbones, bone fragility, and long bone bowing. ( 11547842 )
2001

Variations for Gnathodiaphyseal Dysplasia

UniProtKB/Swiss-Prot genetic disease variations for Gnathodiaphyseal Dysplasia:

71
# Symbol AA change Variation ID SNP ID
1 ANO5 p.Cys356Gly VAR_023524 rs119103234
2 ANO5 p.Cys356Arg VAR_023525 rs119103234
3 ANO5 p.Cys356Tyr VAR_076476

ClinVar genetic disease variations for Gnathodiaphyseal Dysplasia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ANO5 NM_213599.2(ANO5): c.1541C> T (p.Thr514Ile) single nucleotide variant Pathogenic rs397514736 GRCh37 Chromosome 11, 22281198: 22281198
2 ANO5 NM_213599.2(ANO5): c.989dupT (p.Leu330Phefs) duplication Pathogenic rs398124626 GRCh37 Chromosome 11, 22271893: 22271893
3 ANO5 NM_213599.2(ANO5): c.1066T> C (p.Cys356Arg) single nucleotide variant Pathogenic rs119103234 GRCh37 Chromosome 11, 22272339: 22272339
4 ANO5 NM_213599.2(ANO5): c.1066T> G (p.Cys356Gly) single nucleotide variant Pathogenic rs119103234 GRCh37 Chromosome 11, 22272339: 22272339
5 ANO5 NM_213599.2(ANO5): c.304_308delAAAGA (p.Lys102Valfs) deletion Pathogenic rs886041551 GRCh37 Chromosome 11, 22247539: 22247543
6 ANO5 NM_213599.2(ANO5): c.1078T> C (p.Cys360Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 22250805: 22250805

Expression for Gnathodiaphyseal Dysplasia

Search GEO for disease gene expression data for Gnathodiaphyseal Dysplasia.

Pathways for Gnathodiaphyseal Dysplasia

GO Terms for Gnathodiaphyseal Dysplasia

Biological processes related to Gnathodiaphyseal Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neurotransmitter transport GO:0006836 8.96 SLC17A6 SLC6A5
2 positive regulation of epithelial to mesenchymal transition GO:0010718 8.62 BAMBI COL1A1

Molecular functions related to Gnathodiaphyseal Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 8.62 SLC17A6 SLC6A5

Sources for Gnathodiaphyseal Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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