Gnathodiaphyseal Dysplasia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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 Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Bone diseases Oral diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 166260

Orphanet ⁵⁹ ORPHA53697

MedGen ⁴² C1833736

MeSH ⁴⁴ D010013

KEGG ³⁷ H00498

SNOMED-CT via HPO ⁶⁹ 263681008 312894000 78441005 more

UMLS ⁷³ C1833736

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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)

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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	11.2
2	fibrous dysplasia	10.1
3	brittle bone disorder	10.1
4	rubella	10.1
5	fanconi anemia, complementation group f	9.7	GAS2 FANCF

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

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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	9.63	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

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Drugs & Therapeutics for Gnathodiaphyseal Dysplasia

Search Clinical Trials , NIH Clinical Center for Gnathodiaphyseal Dysplasia

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Genetic Tests for Gnathodiaphyseal Dysplasia

Genetic tests related to Gnathodiaphyseal Dysplasia:

#	Genetic test	Affiliating Genes
1	Gnathodiaphyseal Dysplasia ²⁹	ANO5

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Anatomical Context for Gnathodiaphyseal Dysplasia

MalaCards organs/tissues related to Gnathodiaphyseal Dysplasia:

⁴¹

Bone, Cortex

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Publications for Gnathodiaphyseal Dysplasia

Articles related to Gnathodiaphyseal Dysplasia:

(show all 29)

#	Title	Authors	Year
1	Prosthodontic Treatment of a Patient with Gnathodiaphyseal Dysplasia: 30-Year Follow-up. ( 29518808 )	Said M.M....Taniguchi H.	2018
2	Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5). ( 29175271 )		2018
3	Novel ANO5 mutation c.1067G>T (p.C356F) identified by whole genome sequencing in a big family with atypical gnathodiaphyseal dysplasia. ( 30554457 )	Zeng B...Fan S	2018
4	Role of anoctamin 5, a gene associated with gnathodiaphyseal dysplasia, in osteoblast and osteoclast differentiation. ( 30557634 )	Kim JH...Kim N	2018
5	Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia. ( 28176803 )	Jin L....Hu Y.	2017
6	Gain of function of TMEM16E/ANO5 scrambling activity caused by a mutation associated with gnathodiaphyseal dysplasia. ( 29124309 )		2017
7	Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies. ( 27216912 )	Andreeva T.V....Rogaev E.I.	2016
8	A Novel ANO5 Mutation Causing Gnathodiaphyseal Dysplasia With High Bone Turnover Osteosclerosis. ( 27541832 )	Rolvien T....Oheim R.	2016
9	Gnathodiaphyseal dysplasia: report of a family with a novel mutation of the ANO5 gene. ( 27068316 )		2016
10	Gnathodiaphyseal Dysplasia: Surgical Treatment and Prosthetic Rehabilitation of 2 Members of the Same Family. ( 27376179 )		2016
11	Gnathodiaphyseal dysplasia presenting as polyostotic fibrous dysplasia. ( 25866257 )	Vengoechea J....Carpenter L.	2015
12	Gnathodiaphyseal dysplasia. ( 24776605 )	Herman T.E....Sargar K.	2014
13	COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia? ( 24891183 )		2014
14	Effects of gas periodic stimulation on key enzyme activity in gas double-dynamic solid state fermentation (GDD-SSF). ( 24564900 )	Chen H...Li H	2014
15	Capability of long distance 100 GHz FMCW using a single GDD lamp sensor. ( 25608205 )	Levanon A...Abramovich A	2014
16	Value of clinical assessment in the diagnostic evaluation of Global Developmental Delay (GDD) using a Likelihood Ratio Model. ( 20965674 )	Wong VC...Chung B	2011
17	Recurring gnathodiaphyseal dysplasia in two Russian brothers. ( 20005074 )		2010
18	Molecular characterization of GDD1/TMEM16E, the gene product responsible for autosomal dominant gnathodiaphyseal dysplasia. ( 17418107 )	Mizuta K....Itakura M.	2007
19	Gnathodiaphyseal dysplasia. ( 17189853 )	Ahluwalia J....Beall D.P.	2007
20	Mutational analysis of the GDD sequence motif of classical swine fever virus RNA-dependent RNA polymerases. ( 16917742 )	Wang Y...Li B	2007
21	Molecular cloning and characterization of the murine gnathodiaphyseal dysplasia gene GDD1. ( 15882990 )		2005
22	The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD). ( 15124103 )	Tsutsumi S...Itakura M	2004
23	Autosomal dominant gnathodiaphyseal dysplasia maps to chromosome 11p14.3-15.1. ( 12619924 )		2003
24	The complete nucleotide sequence of isolate BYMV-GDD of Bean yellow mosaic virus, and comparison to other potyviruses. ( 14648299 )	Hammond J...Hammond RW	2003
25	Birnavirus VP1 proteins form a distinct subgroup of RNA-dependent RNA polymerases lacking a GDD motif. ( 12069523 )	Shwed PS...Duncan R	2002
26	Gnathodiaphyseal dysplasia: a syndrome of fibro-osseous lesions of jawbones, bone fragility, and long bone bowing. ( 11547842 )	Riminucci M....Bianco P.	2001
27	Mutation analysis of the GDD sequence motif of a calicivirus RNA-dependent RNA polymerase. ( 10729164 )	V?zquez AL...Parra F	2000
28	Delayed magnetic resonance imaging with GdD-DTPA differentiates subdural hygroma and subdural effusion. ( 10825512 )	Mori K...Maeda M	2000
29	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 )	Jablonski SA...Morrow CD	1995

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Genes for Gnathodiaphyseal Dysplasia

Genes related to Gnathodiaphyseal Dysplasia (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ANO5	Anoctamin 5	Protein Coding	1710.05	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)	23047743 23193613 20301582 (more) 15124103 5816667
2	BAMBI	BMP And Activin Membrane Bound Inhibitor	Protein Coding	16.99	GeneCards inferred via : Publications (show sections)
3	FANCF	FA Complementation Group F	Protein Coding	16.99	GeneCards inferred via : Publications (show sections)
4	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	16.99	GeneCards inferred via : Publications (show sections)
5	NELL1	Neural EGFL Like 1	Protein Coding	16.99	GeneCards inferred via : Publications (show sections)
6	SLC6A5	Solute Carrier Family 6 Member 5	Protein Coding	16.99	GeneCards inferred via : Publications (show sections)
7	HTATIP2	HIV-1 Tat Interactive Protein 2	Protein Coding	6.99	GeneCards inferred via : Publications (show sections)
8	GAS2	Growth Arrest Specific 2	Protein Coding	6.99	GeneCards inferred via : Publications (show sections)
9	SLC17A6	Solute Carrier Family 17 Member 6	Protein Coding	6.99	GeneCards inferred via : Publications (show sections)

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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 221)

#	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.1029C> T (p.Asp343=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs78899595	GRCh37	Chromosome 11, 22272302: 22272302
12	ANO5	NM_213599.2(ANO5): c.1029C> T (p.Asp343=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs78899595	GRCh38	Chromosome 11, 22250756: 22250756
13	ANO5	NM_213599.2(ANO5): c.41-1G> A	single nucleotide variant	Pathogenic	rs398124625	GRCh37	Chromosome 11, 22225349: 22225349
14	ANO5	NM_213599.2(ANO5): c.41-1G> A	single nucleotide variant	Pathogenic	rs398124625	GRCh38	Chromosome 11, 22203803: 22203803
15	ANO5	NM_213599.2(ANO5): c.989dupT (p.Leu330Phefs)	duplication	Pathogenic	rs398124626	GRCh37	Chromosome 11, 22271893: 22271893
16	ANO5	NM_213599.2(ANO5): c.989dupT (p.Leu330Phefs)	duplication	Pathogenic	rs398124626	GRCh38	Chromosome 11, 22250347: 22250347
17	ANO5	NM_213599.2(ANO5): c.2259A> G (p.Ser753=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs61746201	GRCh37	Chromosome 11, 22296138: 22296138
18	ANO5	NM_213599.2(ANO5): c.2259A> G (p.Ser753=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs61746201	GRCh38	Chromosome 11, 22274592: 22274592
19	ANO5	NM_213599.2(ANO5): c.2646C> G (p.Asn882Lys)	single nucleotide variant	Benign/Likely benign	rs34969327	GRCh37	Chromosome 11, 22301215: 22301215
20	ANO5	NM_213599.2(ANO5): c.2646C> G (p.Asn882Lys)	single nucleotide variant	Benign/Likely benign	rs34969327	GRCh38	Chromosome 11, 22279669: 22279669
21	ANO5	NM_213599.2(ANO5): c.616A> G (p.Thr206Ala)	single nucleotide variant	Benign	rs78266558	GRCh37	Chromosome 11, 22249100: 22249100
22	ANO5	NM_213599.2(ANO5): c.616A> G (p.Thr206Ala)	single nucleotide variant	Benign	rs78266558	GRCh38	Chromosome 11, 22227554: 22227554
23	ANO5	NM_213599.2(ANO5): c.1095A> G (p.Leu365=)	single nucleotide variant	Benign/Likely benign	rs35804601	GRCh38	Chromosome 11, 22250822: 22250822
24	ANO5	NM_213599.2(ANO5): c.1095A> G (p.Leu365=)	single nucleotide variant	Benign/Likely benign	rs35804601	GRCh37	Chromosome 11, 22272368: 22272368
25	ANO5	NM_213599.2(ANO5): c.1545A> G (p.Ser515=)	single nucleotide variant	Benign/Likely benign	rs35843353	GRCh37	Chromosome 11, 22281202: 22281202
26	ANO5	NM_213599.2(ANO5): c.1545A> G (p.Ser515=)	single nucleotide variant	Benign/Likely benign	rs35843353	GRCh38	Chromosome 11, 22259656: 22259656
27	ANO5	NM_213599.2(ANO5): c.2018A> G (p.Tyr673Cys)	single nucleotide variant	Pathogenic	rs137854527	GRCh38	Chromosome 11, 22270431: 22270431
28	ANO5	NM_213599.2(ANO5): c.2018A> G (p.Tyr673Cys)	single nucleotide variant	Pathogenic	rs137854527	GRCh37	Chromosome 11, 22291977: 22291977
29	ANO5	NM_213599.2(ANO5): c.1520delT (p.Phe507Serfs)	deletion	Pathogenic	rs794727158	GRCh37	Chromosome 11, 22281177: 22281177
30	ANO5	NM_213599.2(ANO5): c.1520delT (p.Phe507Serfs)	deletion	Pathogenic	rs794727158	GRCh38	Chromosome 11, 22259631: 22259631
31	ANO5	NM_213599.2(ANO5): c.1898+1G> A	single nucleotide variant	Pathogenic	rs142027093	GRCh37	Chromosome 11, 22284590: 22284590
32	ANO5	NM_213599.2(ANO5): c.1898+1G> A	single nucleotide variant	Pathogenic	rs142027093	GRCh38	Chromosome 11, 22263044: 22263044
33	ANO5	NM_213599.2(ANO5): c.2141C> G (p.Thr714Ser)	single nucleotide variant	Uncertain significance	rs200631556	GRCh37	Chromosome 11, 22294441: 22294441
34	ANO5	NM_213599.2(ANO5): c.2141C> G (p.Thr714Ser)	single nucleotide variant	Uncertain significance	rs200631556	GRCh38	Chromosome 11, 22272895: 22272895
35	ANO5	NM_213599.2(ANO5): c.2387C> T (p.Ser796Leu)	single nucleotide variant	Benign/Likely benign	rs61910685	GRCh37	Chromosome 11, 22296266: 22296266
36	ANO5	NM_213599.2(ANO5): c.2387C> T (p.Ser796Leu)	single nucleotide variant	Benign/Likely benign	rs61910685	GRCh38	Chromosome 11, 22274720: 22274720
37	ANO5	NM_213599.2(ANO5): c.2503_2505delTTC (p.Phe835del)	deletion	Conflicting interpretations of pathogenicity	rs794727350	GRCh37	Chromosome 11, 22297728: 22297730
38	ANO5	NM_213599.2(ANO5): c.2503_2505delTTC (p.Phe835del)	deletion	Conflicting interpretations of pathogenicity	rs794727350	GRCh38	Chromosome 11, 22276182: 22276184
39	ANO5	NM_213599.2(ANO5): c.2698A> C (p.Met900Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148293985	GRCh37	Chromosome 11, 22301267: 22301267
40	ANO5	NM_213599.2(ANO5): c.2698A> C (p.Met900Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148293985	GRCh38	Chromosome 11, 22279721: 22279721
41	ANO5	NM_213599.2(ANO5): c.172C> T (p.Arg58Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201725369	GRCh37	Chromosome 11, 22239825: 22239825
42	ANO5	NM_213599.2(ANO5): c.172C> T (p.Arg58Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201725369	GRCh38	Chromosome 11, 22218279: 22218279
43	ANO5	NM_213599.2(ANO5): c.155A> G (p.Asn52Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs143777403	GRCh37	Chromosome 11, 22239808: 22239808
44	ANO5	NM_213599.2(ANO5): c.155A> G (p.Asn52Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs143777403	GRCh38	Chromosome 11, 22218262: 22218262
45	ANO5	NM_213599.2(ANO5): c.294G> A (p.Ala98=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs142858990	GRCh37	Chromosome 11, 22242756: 22242756
46	ANO5	NM_213599.2(ANO5): c.294G> A (p.Ala98=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs142858990	GRCh38	Chromosome 11, 22221210: 22221210
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

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

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

¹ BioSystems

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³ CDC

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¹⁰ dbSNP

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²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

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⁴¹ MalaCards

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⁵⁵ Novoseek

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⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

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⁶¹ PharmGKB

⁶² PubMed

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Gnathodiaphyseal Dysplasia (GDD)

Aliases & Classifications for Gnathodiaphyseal Dysplasia

MalaCards integrated aliases for Gnathodiaphyseal Dysplasia:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Gnathodiaphyseal Dysplasia

Related Diseases for Gnathodiaphyseal Dysplasia

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

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

Symptoms & Phenotypes for Gnathodiaphyseal Dysplasia

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Gnathodiaphyseal Dysplasia:

MGI Mouse Phenotypes related to Gnathodiaphyseal Dysplasia:

Drugs & Therapeutics for Gnathodiaphyseal Dysplasia

Genetic Tests for Gnathodiaphyseal Dysplasia

Genetic tests related to Gnathodiaphyseal Dysplasia:

Anatomical Context for Gnathodiaphyseal Dysplasia

MalaCards organs/tissues related to Gnathodiaphyseal Dysplasia:

Publications for Gnathodiaphyseal Dysplasia

Articles related to Gnathodiaphyseal Dysplasia:

Genes for Gnathodiaphyseal Dysplasia

Genes related to Gnathodiaphyseal Dysplasia (1 elite genes):

Variations for Gnathodiaphyseal Dysplasia

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

ClinVar genetic disease variations for Gnathodiaphyseal Dysplasia:

Expression for Gnathodiaphyseal Dysplasia

Pathways for Gnathodiaphyseal Dysplasia

GO Terms for Gnathodiaphyseal Dysplasia

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

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

Sources for Gnathodiaphyseal Dysplasia