MCID: GNT026
MIFTS: 35

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 57 25 59 75 37 29 13 6
Gdd 57 25 59 75
Osteogenesis Imperfecta with Unusual Skeletal Lesions 57 25 75
Gnathodiaphyseal Sclerosis 57 25 75
Osteogenesis Imperfecta, Levin Type 25 73
Dysplasia, Gnathodiaphyseal 40
Levin Syndrome 2 25

Characteristics:

Orphanet epidemiological data:

59
gnathodiaphyseal dysplasia
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in first or second decade


HPO:

32
gnathodiaphyseal dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 166260
Orphanet 59 ORPHA53697
MedGen 42 C1833736
MeSH 44 D010013
KEGG 37 H00498
UMLS 73 C1833736

Summaries for Gnathodiaphyseal Dysplasia

UniProtKB/Swiss-Prot : 75 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 fibrous dysplasia. An important gene associated with Gnathodiaphyseal Dysplasia is ANO5 (Anoctamin 5). Affiliated tissues include bone and cortex, and related phenotypes are osteopenia and scoliosis

Genetics Home Reference : 25 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.

OMIM : 57 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)

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 fibrous dysplasia 10.0
3 rubella 9.9
4 fanconi anemia, complementation group f 9.5 FANCF GAS2

Symptoms & Phenotypes for Gnathodiaphyseal Dysplasia

Symptoms via clinical synopsis from OMIM:

57
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:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopenia 59 32 frequent (33%) Frequent (79-30%) HP:0000938
2 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
3 bowing of the long bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0006487
4 recurrent fractures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002757
5 mandibular osteomyelitis 59 32 frequent (33%) Frequent (79-30%) HP:0007626
6 broad jaw 59 32 hallmark (90%) Very frequent (99-80%) HP:0012802
7 thickened cortex of long bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0000935
8 increased susceptibility to fractures 32 HP:0002659
9 diaphyseal cortical sclerosis 32 HP:0005045

MGI Mouse Phenotypes related to Gnathodiaphyseal Dysplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.43 NELL1 SLC17A6 SLC6A5 ANO5 BAMBI COL1A1
2 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 29 ANO5

Anatomical Context for Gnathodiaphyseal Dysplasia

MalaCards organs/tissues related to Gnathodiaphyseal Dysplasia:

41
Bone, Cortex

Publications for Gnathodiaphyseal Dysplasia

Articles related to Gnathodiaphyseal Dysplasia:

(show all 18)
# Title Authors Year
1
Prosthodontic Treatment of a Patient with Gnathodiaphyseal Dysplasia: 30-Year Follow-up. ( 29518808 )
2018
2
Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5). ( 29175271 )
2018
3
Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia. ( 28176803 )
2017
4
Gain of function of TMEM16E/ANO5 scrambling activity caused by a mutation associated with gnathodiaphyseal dysplasia. ( 29124309 )
2017
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: report of a family with a novel mutation of the ANO5 gene. ( 27068316 )
2016
8
Gnathodiaphyseal Dysplasia: Surgical Treatment and Prosthetic Rehabilitation of 2 Members of the Same Family. ( 27376179 )
2016
9
Gnathodiaphyseal dysplasia presenting as polyostotic fibrous dysplasia. ( 25866257 )
2015
10
Gnathodiaphyseal dysplasia. ( 24776605 )
2014
11
COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia? ( 24891183 )
2014
12
Recurring gnathodiaphyseal dysplasia in two Russian brothers. ( 20005074 )
2010
13
Molecular characterization of GDD1/TMEM16E, the gene product responsible for autosomal dominant gnathodiaphyseal dysplasia. ( 17418107 )
2007
14
Gnathodiaphyseal dysplasia. ( 17189853 )
2007
15
Molecular cloning and characterization of the murine gnathodiaphyseal dysplasia gene GDD1. ( 15882990 )
2005
16
The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD). ( 15124103 )
2004
17
Autosomal dominant gnathodiaphyseal dysplasia maps to chromosome 11p14.3-15.1. ( 12619924 )
2003
18
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:

75
# 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
(show top 50) (show all 135)
# Gene Variation Type Significance SNP ID Assembly Location
1 ANO5 NM_213599.2(ANO5): c.1066T> C (p.Cys356Arg) single nucleotide variant Pathogenic rs119103234 GRCh37 Chromosome 11, 22272339: 22272339
2 ANO5 NM_213599.2(ANO5): c.1066T> C (p.Cys356Arg) single nucleotide variant Pathogenic rs119103234 GRCh38 Chromosome 11, 22250793: 22250793
3 ANO5 NM_213599.2(ANO5): c.1066T> G (p.Cys356Gly) 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 GRCh38 Chromosome 11, 22250793: 22250793
5 ANO5 NM_213599.2(ANO5): c.191dupA (p.Asn64Lysfs) duplication Pathogenic rs137854521 GRCh37 Chromosome 11, 22242653: 22242653
6 ANO5 NM_213599.2(ANO5): c.191dupA (p.Asn64Lysfs) duplication Pathogenic rs137854521 GRCh38 Chromosome 11, 22221107: 22221107
7 ANO5 NM_213599.2(ANO5): c.692G> T (p.Gly231Val) single nucleotide variant Pathogenic/Likely pathogenic rs137854523 GRCh37 Chromosome 11, 22257752: 22257752
8 ANO5 NM_213599.2(ANO5): c.692G> T (p.Gly231Val) single nucleotide variant Pathogenic/Likely pathogenic rs137854523 GRCh38 Chromosome 11, 22236206: 22236206
9 ANO5 NM_213599.2(ANO5): c.1541C> T (p.Thr514Ile) single nucleotide variant Pathogenic rs397514736 GRCh37 Chromosome 11, 22281198: 22281198
10 ANO5 NM_213599.2(ANO5): c.1541C> T (p.Thr514Ile) single nucleotide variant Pathogenic rs397514736 GRCh38 Chromosome 11, 22259652: 22259652
11 ANO5 NM_213599.2(ANO5): c.41-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs398124625 GRCh37 Chromosome 11, 22225349: 22225349
12 ANO5 NM_213599.2(ANO5): c.41-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs398124625 GRCh38 Chromosome 11, 22203803: 22203803
13 ANO5 NM_213599.2(ANO5): c.989dupT (p.Leu330Phefs) duplication Pathogenic rs398124626 GRCh37 Chromosome 11, 22271893: 22271893
14 ANO5 NM_213599.2(ANO5): c.989dupT (p.Leu330Phefs) duplication Pathogenic rs398124626 GRCh38 Chromosome 11, 22250347: 22250347
15 ANO5 NM_213599.2(ANO5): c.2018A> G (p.Tyr673Cys) single nucleotide variant Pathogenic rs137854527 GRCh38 Chromosome 11, 22270431: 22270431
16 ANO5 NM_213599.2(ANO5): c.2018A> G (p.Tyr673Cys) single nucleotide variant Pathogenic rs137854527 GRCh37 Chromosome 11, 22291977: 22291977
17 ANO5 NM_213599.2(ANO5): c.1898+1G> A single nucleotide variant Pathogenic rs142027093 GRCh37 Chromosome 11, 22284590: 22284590
18 ANO5 NM_213599.2(ANO5): c.1898+1G> A single nucleotide variant Pathogenic rs142027093 GRCh38 Chromosome 11, 22263044: 22263044
19 ANO5 NM_213599.2(ANO5): c.2141C> G (p.Thr714Ser) single nucleotide variant Uncertain significance rs200631556 GRCh37 Chromosome 11, 22294441: 22294441
20 ANO5 NM_213599.2(ANO5): c.2141C> G (p.Thr714Ser) single nucleotide variant Uncertain significance rs200631556 GRCh38 Chromosome 11, 22272895: 22272895
21 ANO5 NM_213599.2(ANO5): c.2387C> T (p.Ser796Leu) single nucleotide variant Benign rs61910685 GRCh37 Chromosome 11, 22296266: 22296266
22 ANO5 NM_213599.2(ANO5): c.2387C> T (p.Ser796Leu) single nucleotide variant Benign rs61910685 GRCh38 Chromosome 11, 22274720: 22274720
23 ANO5 NM_213599.2(ANO5): c.2503_2505delTTC (p.Phe835del) deletion Conflicting interpretations of pathogenicity rs794727350 GRCh37 Chromosome 11, 22297728: 22297730
24 ANO5 NM_213599.2(ANO5): c.2503_2505delTTC (p.Phe835del) deletion Conflicting interpretations of pathogenicity rs794727350 GRCh38 Chromosome 11, 22276182: 22276184
25 ANO5 NM_213599.2(ANO5): c.2698A> C (p.Met900Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs148293985 GRCh37 Chromosome 11, 22301267: 22301267
26 ANO5 NM_213599.2(ANO5): c.2698A> C (p.Met900Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs148293985 GRCh38 Chromosome 11, 22279721: 22279721
27 ANO5 NM_213599.2(ANO5): c.155A> G (p.Asn52Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs143777403 GRCh37 Chromosome 11, 22239808: 22239808
28 ANO5 NM_213599.2(ANO5): c.155A> G (p.Asn52Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs143777403 GRCh38 Chromosome 11, 22218262: 22218262
29 ANO5 NM_213599.2(ANO5): c.294G> A (p.Ala98=) single nucleotide variant Conflicting interpretations of pathogenicity rs142858990 GRCh37 Chromosome 11, 22242756: 22242756
30 ANO5 NM_213599.2(ANO5): c.294G> A (p.Ala98=) single nucleotide variant Conflicting interpretations of pathogenicity rs142858990 GRCh38 Chromosome 11, 22221210: 22221210
31 ANO5 NM_213599.2(ANO5): c.800C> G (p.Thr267Ser) single nucleotide variant Benign rs138144479 GRCh37 Chromosome 11, 22261152: 22261152
32 ANO5 NM_213599.2(ANO5): c.800C> G (p.Thr267Ser) single nucleotide variant Benign rs138144479 GRCh38 Chromosome 11, 22239606: 22239606
33 ANO5 NM_213599.2(ANO5): c.604G> A (p.Glu202Lys) single nucleotide variant Benign/Likely benign rs115750596 GRCh37 Chromosome 11, 22249088: 22249088
34 ANO5 NM_213599.2(ANO5): c.604G> A (p.Glu202Lys) single nucleotide variant Benign/Likely benign rs115750596 GRCh38 Chromosome 11, 22227542: 22227542
35 ANO5 NM_213599.2(ANO5): c.2354T> G (p.Leu785Arg) single nucleotide variant Benign/Likely benign rs146136277 GRCh37 Chromosome 11, 22296233: 22296233
36 ANO5 NM_213599.2(ANO5): c.2354T> G (p.Leu785Arg) single nucleotide variant Benign/Likely benign rs146136277 GRCh38 Chromosome 11, 22274687: 22274687
37 ANO5 NM_213599.2(ANO5): c.304_308delAAAGA (p.Lys102Valfs) deletion Pathogenic rs886041551 GRCh37 Chromosome 11, 22247539: 22247543
38 ANO5 NM_213599.2(ANO5): c.304_308delAAAGA (p.Lys102Valfs) deletion Pathogenic rs886041551 GRCh38 Chromosome 11, 22225993: 22225997
39 ANO5 NM_213599.2(ANO5): c.1042G> A (p.Gly348Ser) single nucleotide variant Uncertain significance rs139344099 GRCh37 Chromosome 11, 22272315: 22272315
40 ANO5 NM_213599.2(ANO5): c.1042G> A (p.Gly348Ser) single nucleotide variant Uncertain significance rs139344099 GRCh38 Chromosome 11, 22250769: 22250769
41 ANO5 NM_213599.2(ANO5): c.553G> C (p.Glu185Gln) single nucleotide variant Uncertain significance rs140381407 GRCh37 Chromosome 11, 22249037: 22249037
42 ANO5 NM_213599.2(ANO5): c.553G> C (p.Glu185Gln) single nucleotide variant Uncertain significance rs140381407 GRCh38 Chromosome 11, 22227491: 22227491
43 ANO5 NM_213599.2(ANO5): c.1203G> T (p.Trp401Cys) single nucleotide variant Uncertain significance rs886042339 GRCh37 Chromosome 11, 22276939: 22276939
44 ANO5 NM_213599.2(ANO5): c.1203G> T (p.Trp401Cys) single nucleotide variant Uncertain significance rs886042339 GRCh38 Chromosome 11, 22255393: 22255393
45 ANO5 NM_213599.2(ANO5): c.2520+6C> T single nucleotide variant Uncertain significance rs886042378 GRCh37 Chromosome 11, 22297751: 22297751
46 ANO5 NM_213599.2(ANO5): c.2520+6C> T single nucleotide variant Uncertain significance rs886042378 GRCh38 Chromosome 11, 22276205: 22276205
47 ANO5 NM_213599.2(ANO5): c.2521-7C> T single nucleotide variant Benign/Likely benign rs201438159 GRCh37 Chromosome 11, 22301083: 22301083
48 ANO5 NM_213599.2(ANO5): c.2521-7C> T single nucleotide variant Benign/Likely benign rs201438159 GRCh38 Chromosome 11, 22279537: 22279537
49 ANO5 NM_213599.2(ANO5): c.680G> C (p.Gly227Ala) single nucleotide variant Likely benign rs140903276 GRCh37 Chromosome 11, 22257740: 22257740
50 ANO5 NM_213599.2(ANO5): c.680G> C (p.Gly227Ala) single nucleotide variant Likely benign rs140903276 GRCh38 Chromosome 11, 22236194: 22236194

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
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
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