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GDD
MCID: GNT026
MIFTS: 37

Gnathodiaphyseal Dysplasia (GDD)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Gnathodiaphyseal Dysplasia

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MalaCards integrated aliases for Gnathodiaphyseal Dysplasia:

Name: Gnathodiaphyseal Dysplasia 58 26 60 76 38 30 13 6
Gdd 58 26 60 76
Osteogenesis Imperfecta with Unusual Skeletal Lesions 58 26 76
Gnathodiaphyseal Sclerosis 58 26 76
Osteogenesis Imperfecta, Levin Type 26 74
Dysplasia, Gnathodiaphyseal 41
Levin Syndrome 2 26

Characteristics:

Orphanet epidemiological data:

60
gnathodiaphyseal dysplasia
Inheritance: Autosomal dominant;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in first or second decade


HPO:

33
gnathodiaphyseal dysplasia:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Bone diseases Oral diseases
See all MalaCards categories (disease lists)
Orphanet: 60  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 58 166260
KEGG 38 H00498
MeSH 45 D010013
Orphanet 60 ORPHA53697
MedGen 43 C1833736
UMLS 74 C1833736
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Summaries for Gnathodiaphyseal Dysplasia

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UniProtKB/Swiss-Prot : 76 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 bowing of the long bones and broad jaw

Genetics Home Reference : 26 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 : 58 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)

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Related Diseases for Gnathodiaphyseal Dysplasia

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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 11.2
2 fibrous dysplasia 10.2
3 brittle bone disorder 10.1
4 col1a1/2-related osteogenesis imperfecta 10.1
5 rubella 10.1
6 fanconi anemia, complementation group f 9.6 FANCF GAS2

Graphical network of the top 20 diseases related to Gnathodiaphyseal Dysplasia:



Diseases related to Gnathodiaphyseal Dysplasia
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Symptoms & Phenotypes for Gnathodiaphyseal Dysplasia

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Human phenotypes related to Gnathodiaphyseal Dysplasia:

60 33 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bowing of the long bones 60 33 hallmark (90%) Very frequent (99-80%) HP:0006487
2 broad jaw 60 33 hallmark (90%) Very frequent (99-80%) HP:0012802
3 thickened cortex of long bones 60 33 hallmark (90%) Very frequent (99-80%) HP:0000935
4 osteopenia 60 33 frequent (33%) Frequent (79-30%) HP:0000938
5 mandibular osteomyelitis 60 33 frequent (33%) Frequent (79-30%) HP:0007626
6 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
7 recurrent fractures 60 33 occasional (7.5%) Occasional (29-5%) HP:0002757
8 increased susceptibility to fractures 33 HP:0002659
9 diaphyseal cortical sclerosis 33 HP:0005045

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Gnathodiaphyseal Dysplasia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.63 ANO5 BAMBI COL1A1 NELL1 SLC17A6 SLC6A5
2 craniofacial MP:0005382 9.26 BAMBI COL1A1 NELL1 SLC6A5
3 reproductive system MP:0005389 9.02 ANO5 COL1A1 FANCF GAS2 SLC6A5
Sources

Drugs & Therapeutics for Gnathodiaphyseal Dysplasia

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Search Clinical Trials , NIH Clinical Center for Gnathodiaphyseal Dysplasia

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Genetic Tests for Gnathodiaphyseal Dysplasia

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Genetic tests related to Gnathodiaphyseal Dysplasia:

# Genetic test Affiliating Genes
1 Gnathodiaphyseal Dysplasia 30 ANO5
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Anatomical Context for Gnathodiaphyseal Dysplasia

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MalaCards organs/tissues related to Gnathodiaphyseal Dysplasia:

42
Bone, Cortex
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Publications for Gnathodiaphyseal Dysplasia

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Articles related to Gnathodiaphyseal Dysplasia:

(show all 31)
# Title Authors Year
1
Novel ANO5 mutation c.1067G>T (p.C356F) identified by whole genome sequencing in a big family with atypical gnathodiaphyseal dysplasia. ( 30554457 )
2019
2
Role of anoctamin 5, a gene associated with gnathodiaphyseal dysplasia, in osteoblast and osteoclast differentiation. ( 30557634 )
2019
3
Gnathodiaphyseal dysplasia with a novel R597I mutation of ANO5: Mandibular reconstruction strategies. ( 30641283 )
2019
4
Genetic Disruption of Anoctamin 5 in Mice Replicates Human Gnathodiaphyseal Dysplasia (GDD). ( 30712070 )
2019
5
Recurrent femoral shaft fractures in a child with gnathodiaphyseal dysplasia: a case report. ( 30797234 )
2019
6
Prosthodontic Treatment of a Patient with Gnathodiaphyseal Dysplasia: 30-Year Follow-up. ( 29518808 )
2018
7
Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5). ( 29175271 )
2018
8
Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia. ( 28176803 )
2017
9
Gain of function of TMEM16E/ANO5 scrambling activity caused by a mutation associated with gnathodiaphyseal dysplasia. ( 29124309 )
2017
10
Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies. ( 27216912 )
2016
11
A Novel ANO5 Mutation Causing Gnathodiaphyseal Dysplasia With High Bone Turnover Osteosclerosis. ( 27541832 )
2016
12
Gnathodiaphyseal dysplasia: report of a family with a novel mutation of the ANO5 gene. ( 27068316 )
2016
13
Gnathodiaphyseal Dysplasia: Surgical Treatment and Prosthetic Rehabilitation of 2 Members of the Same Family. ( 27376179 )
2016
14
Gnathodiaphyseal dysplasia presenting as polyostotic fibrous dysplasia. ( 25866257 )
2015
15
Gnathodiaphyseal dysplasia. ( 24776605 )
2014
16
COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia? ( 24891183 )
2014
17
Effects of gas periodic stimulation on key enzyme activity in gas double-dynamic solid state fermentation (GDD-SSF). ( 24564900 )
2014
18
Capability of long distance 100  GHz FMCW using a single GDD lamp sensor. ( 25608205 )
2014
19
Value of clinical assessment in the diagnostic evaluation of Global Developmental Delay (GDD) using a Likelihood Ratio Model. ( 20965674 )
2011
20
Recurring gnathodiaphyseal dysplasia in two Russian brothers. ( 20005074 )
2010
21
Molecular characterization of GDD1/TMEM16E, the gene product responsible for autosomal dominant gnathodiaphyseal dysplasia. ( 17418107 )
2007
22
Gnathodiaphyseal dysplasia. ( 17189853 )
2007
23
Mutational analysis of the GDD sequence motif of classical swine fever virus RNA-dependent RNA polymerases. ( 16917742 )
2007
24
Molecular cloning and characterization of the murine gnathodiaphyseal dysplasia gene GDD1. ( 15882990 )
2005
25
Autosomal dominant gnathodiaphyseal dysplasia maps to chromosome 11p14.3-15.1. ( 12619924 )
2003
26
The complete nucleotide sequence of isolate BYMV-GDD of Bean yellow mosaic virus, and comparison to other potyviruses. ( 14648299 )
2003
27
Birnavirus VP1 proteins form a distinct subgroup of RNA-dependent RNA polymerases lacking a GDD motif. ( 12069523 )
2002
28
Gnathodiaphyseal dysplasia: a syndrome of fibro-osseous lesions of jawbones, bone fragility, and long bone bowing. ( 11547842 )
2001
29
Mutation analysis of the GDD sequence motif of a calicivirus RNA-dependent RNA polymerase. ( 10729164 )
2000
30
Delayed magnetic resonance imaging with GdD-DTPA differentiates subdural hygroma and subdural effusion. ( 10825512 )
2000
31
Mutation of the aspartic acid residues of the GDD sequence motif of poliovirus RNA-dependent RNA polymerase results in enzymes with altered metal ion requirements for activity. ( 7853486 )
1995
Sources

Variations for Gnathodiaphyseal Dysplasia

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

76
# 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 221)
# Gene Variation Type Significance SNP ID Assembly Location
1 ANO5 NM_213599.2(ANO5): c.1520delT (p.Phe507Serfs) deletion Pathogenic rs794727158 GRCh37 Chromosome 11, 22281177: 22281177
2 ANO5 NM_213599.2(ANO5): c.1520delT (p.Phe507Serfs) deletion Pathogenic rs794727158 GRCh38 Chromosome 11, 22259631: 22259631
3 ANO5 NM_213599.2(ANO5): c.1898+1G> A single nucleotide variant Pathogenic rs142027093 GRCh37 Chromosome 11, 22284590: 22284590
4 ANO5 NM_213599.2(ANO5): c.1898+1G> A single nucleotide variant Pathogenic rs142027093 GRCh38 Chromosome 11, 22263044: 22263044
5 ANO5 NM_213599.2(ANO5): c.2141C> G (p.Thr714Ser) single nucleotide variant Uncertain significance rs200631556 GRCh37 Chromosome 11, 22294441: 22294441
6 ANO5 NM_213599.2(ANO5): c.2141C> G (p.Thr714Ser) single nucleotide variant Uncertain significance rs200631556 GRCh38 Chromosome 11, 22272895: 22272895
7 ANO5 NM_213599.2(ANO5): c.2387C> T (p.Ser796Leu) single nucleotide variant Benign/Likely benign rs61910685 GRCh37 Chromosome 11, 22296266: 22296266
8 ANO5 NM_213599.2(ANO5): c.2387C> T (p.Ser796Leu) single nucleotide variant Benign/Likely benign rs61910685 GRCh38 Chromosome 11, 22274720: 22274720
9 ANO5 NM_213599.2(ANO5): c.2503_2505delTTC (p.Phe835del) deletion Conflicting interpretations of pathogenicity rs794727350 GRCh37 Chromosome 11, 22297728: 22297730
10 ANO5 NM_213599.2(ANO5): c.2503_2505delTTC (p.Phe835del) deletion Conflicting interpretations of pathogenicity rs794727350 GRCh38 Chromosome 11, 22276182: 22276184
11 ANO5 NM_213599.2(ANO5): c.2698A> C (p.Met900Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs148293985 GRCh37 Chromosome 11, 22301267: 22301267
12 ANO5 NM_213599.2(ANO5): c.2698A> C (p.Met900Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs148293985 GRCh38 Chromosome 11, 22279721: 22279721
13 ANO5 NM_213599.2(ANO5): c.172C> T (p.Arg58Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs201725369 GRCh37 Chromosome 11, 22239825: 22239825
14 ANO5 NM_213599.2(ANO5): c.172C> T (p.Arg58Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs201725369 GRCh38 Chromosome 11, 22218279: 22218279
15 ANO5 NM_213599.2(ANO5): c.155A> G (p.Asn52Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs143777403 GRCh37 Chromosome 11, 22239808: 22239808
16 ANO5 NM_213599.2(ANO5): c.155A> G (p.Asn52Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs143777403 GRCh38 Chromosome 11, 22218262: 22218262
17 ANO5 NM_213599.2(ANO5): c.294G> A (p.Ala98=) single nucleotide variant Conflicting interpretations of pathogenicity rs142858990 GRCh37 Chromosome 11, 22242756: 22242756
18 ANO5 NM_213599.2(ANO5): c.294G> A (p.Ala98=) single nucleotide variant Conflicting interpretations of pathogenicity rs142858990 GRCh38 Chromosome 11, 22221210: 22221210
19 ANO5 NM_213599.2(ANO5): c.1066T> C (p.Cys356Arg) single nucleotide variant Pathogenic rs119103234 GRCh37 Chromosome 11, 22272339: 22272339
20 ANO5 NM_213599.2(ANO5): c.1066T> C (p.Cys356Arg) single nucleotide variant Pathogenic rs119103234 GRCh38 Chromosome 11, 22250793: 22250793
21 ANO5 NM_213599.2(ANO5): c.1066T> G (p.Cys356Gly) single nucleotide variant Pathogenic rs119103234 GRCh37 Chromosome 11, 22272339: 22272339
22 ANO5 NM_213599.2(ANO5): c.1066T> G (p.Cys356Gly) single nucleotide variant Pathogenic rs119103234 GRCh38 Chromosome 11, 22250793: 22250793
23 ANO5 NM_213599.2(ANO5): c.191dupA (p.Asn64Lysfs) duplication Pathogenic/Likely pathogenic rs137854521 GRCh37 Chromosome 11, 22242653: 22242653
24 ANO5 NM_213599.2(ANO5): c.191dupA (p.Asn64Lysfs) duplication Pathogenic/Likely pathogenic rs137854521 GRCh38 Chromosome 11, 22221107: 22221107
25 ANO5 NM_213599.2(ANO5): c.692G> T (p.Gly231Val) single nucleotide variant Pathogenic/Likely pathogenic rs137854523 GRCh37 Chromosome 11, 22257752: 22257752
26 ANO5 NM_213599.2(ANO5): c.692G> T (p.Gly231Val) single nucleotide variant Pathogenic/Likely pathogenic rs137854523 GRCh38 Chromosome 11, 22236206: 22236206
27 ANO5 NM_213599.2(ANO5): c.1541C> T (p.Thr514Ile) single nucleotide variant Pathogenic rs397514736 GRCh37 Chromosome 11, 22281198: 22281198
28 ANO5 NM_213599.2(ANO5): c.1541C> T (p.Thr514Ile) single nucleotide variant Pathogenic rs397514736 GRCh38 Chromosome 11, 22259652: 22259652
29 ANO5 NM_213599.2(ANO5): c.1029C> T (p.Asp343=) single nucleotide variant Conflicting interpretations of pathogenicity rs78899595 GRCh37 Chromosome 11, 22272302: 22272302
30 ANO5 NM_213599.2(ANO5): c.1029C> T (p.Asp343=) single nucleotide variant Conflicting interpretations of pathogenicity rs78899595 GRCh38 Chromosome 11, 22250756: 22250756
31 ANO5 NM_213599.2(ANO5): c.41-1G> A single nucleotide variant Pathogenic rs398124625 GRCh37 Chromosome 11, 22225349: 22225349
32 ANO5 NM_213599.2(ANO5): c.41-1G> A single nucleotide variant Pathogenic rs398124625 GRCh38 Chromosome 11, 22203803: 22203803
33 ANO5 NM_213599.2(ANO5): c.989dupT (p.Leu330Phefs) duplication Pathogenic rs398124626 GRCh37 Chromosome 11, 22271893: 22271893
34 ANO5 NM_213599.2(ANO5): c.989dupT (p.Leu330Phefs) duplication Pathogenic rs398124626 GRCh38 Chromosome 11, 22250347: 22250347
35 ANO5 NM_213599.2(ANO5): c.2259A> G (p.Ser753=) single nucleotide variant Conflicting interpretations of pathogenicity rs61746201 GRCh37 Chromosome 11, 22296138: 22296138
36 ANO5 NM_213599.2(ANO5): c.2259A> G (p.Ser753=) single nucleotide variant Conflicting interpretations of pathogenicity rs61746201 GRCh38 Chromosome 11, 22274592: 22274592
37 ANO5 NM_213599.2(ANO5): c.2646C> G (p.Asn882Lys) single nucleotide variant Benign/Likely benign rs34969327 GRCh37 Chromosome 11, 22301215: 22301215
38 ANO5 NM_213599.2(ANO5): c.2646C> G (p.Asn882Lys) single nucleotide variant Benign/Likely benign rs34969327 GRCh38 Chromosome 11, 22279669: 22279669
39 ANO5 NM_213599.2(ANO5): c.616A> G (p.Thr206Ala) single nucleotide variant Benign rs78266558 GRCh37 Chromosome 11, 22249100: 22249100
40 ANO5 NM_213599.2(ANO5): c.616A> G (p.Thr206Ala) single nucleotide variant Benign rs78266558 GRCh38 Chromosome 11, 22227554: 22227554
41 ANO5 NM_213599.2(ANO5): c.1095A> G (p.Leu365=) single nucleotide variant Benign/Likely benign rs35804601 GRCh38 Chromosome 11, 22250822: 22250822
42 ANO5 NM_213599.2(ANO5): c.1095A> G (p.Leu365=) single nucleotide variant Benign/Likely benign rs35804601 GRCh37 Chromosome 11, 22272368: 22272368
43 ANO5 NM_213599.2(ANO5): c.1545A> G (p.Ser515=) single nucleotide variant Benign/Likely benign rs35843353 GRCh37 Chromosome 11, 22281202: 22281202
44 ANO5 NM_213599.2(ANO5): c.1545A> G (p.Ser515=) single nucleotide variant Benign/Likely benign rs35843353 GRCh38 Chromosome 11, 22259656: 22259656
45 ANO5 NM_213599.2(ANO5): c.2018A> G (p.Tyr673Cys) single nucleotide variant Pathogenic rs137854527 GRCh38 Chromosome 11, 22270431: 22270431
46 ANO5 NM_213599.2(ANO5): c.2018A> G (p.Tyr673Cys) single nucleotide variant Pathogenic rs137854527 GRCh37 Chromosome 11, 22291977: 22291977
47 ANO5 NM_213599.2(ANO5): c.800C> G (p.Thr267Ser) single nucleotide variant Benign rs138144479 GRCh37 Chromosome 11, 22261152: 22261152
48 ANO5 NM_213599.2(ANO5): c.800C> G (p.Thr267Ser) single nucleotide variant Benign rs138144479 GRCh38 Chromosome 11, 22239606: 22239606
49 ANO5 NM_213599.2(ANO5): c.604G> A (p.Glu202Lys) single nucleotide variant Benign/Likely benign rs115750596 GRCh37 Chromosome 11, 22249088: 22249088
50 ANO5 NM_213599.2(ANO5): c.604G> A (p.Glu202Lys) single nucleotide variant Benign/Likely benign rs115750596 GRCh38 Chromosome 11, 22227542: 22227542
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Expression for Gnathodiaphyseal Dysplasia

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Search GEO for disease gene expression data for Gnathodiaphyseal Dysplasia.
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Pathways for Gnathodiaphyseal Dysplasia

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GO Terms for Gnathodiaphyseal Dysplasia

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of canonical Wnt signaling pathway GO:0090263 9.16 BAMBI COL1A1
2 positive regulation of epithelial to mesenchymal transition GO:0010718 8.96 BAMBI COL1A1
3 neurotransmitter transport GO:0006836 8.62 SLC17A6 SLC6A5

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
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Sources for Gnathodiaphyseal Dysplasia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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