MCID: PRX021
MIFTS: 50

Proximal Symphalangism malady

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

Aliases & Classifications for Proximal Symphalangism

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 54Orphanet, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Proximal Symphalangism:

Name: Proximal Symphalangism 11 48 24 54 13
Symphalangism, Proximal 12 50 68
Symphalangism, Proximal, 1a 48 68
Symphalangism, Cushing Type 54 27
Cushing's Symphalangism 11 48
Hereditary Absence of the Proximal Interphalangeal Joints 24
 
Strasburger-Hawkins-Eldridge-Hargrave-Mckusick Syndrome 48
Hereditary Absence of Proximal Interphalangeal Joints 48
Strasburger-Hawkins-Eldridge Syndrome 48
Symphalangism, Proximal, 1b 48
Cushing Symphalangism 24
Vessel’s Syndrome 48

Characteristics:

Orphanet epidemiological data:

54
proximal symphalangism:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Disease Ontology11 DOID:0050788
Orphanet54 ORPHA3250
UMLS via Orphanet69 C1861385
MESH via Orphanet40 C536223
ICD10 via Orphanet31 Q70.9

Summaries for Proximal Symphalangism

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NIH Rare Diseases:48 Proximal symphalangism, which is also called cushing's symphalangism, is a rare genetic condition characterized by the fusion of the proximal joints in the hands and feet. these individuals usually have straight fingers and are unable to make a fist. other joints may also be affected, leading to stiff joints in the elbows, ankles and wrists. hearing loss due to the fusion of the auditory ossicles (bones in the middle ear) is also a characteristic feature. this condition is inherited in an autosomal dominant pattern and is caused by a mutation in the nog gene or gdf5 gene. last updated: 5/6/2011

MalaCards based summary: Proximal Symphalangism, also known as symphalangism, proximal, is related to symphalangism, proximal, 1b and tarsal-carpal coalition syndrome, and has symptoms including Array, Array and Array. An important gene associated with Proximal Symphalangism is NOG (Noggin), and among its related pathways are Cardiac Progenitor Differentiation and Wnt signaling network. Affiliated tissues include bone, and related mouse phenotypes are Increased cell viability after pRB stimulation and digestive/alimentary.

Disease Ontology:11 An autosomal dominant disease that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness.

Related Diseases for Proximal Symphalangism

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Diseases in the Proximal Symphalangism family:

Symphalangism, Proximal, 1a Symphalangism, Proximal, 1b

Diseases related to Proximal Symphalangism via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
idRelated DiseaseScoreTop Affiliating Genes
1symphalangism, proximal, 1b34.0BMPR1B, GDF5
2tarsal-carpal coalition syndrome27.4BMP2, BMP4, BMP7, BMPR1B, CSF1R, FGF9
3symphalangism, proximal, 1a11.1
4loeys-dietz syndrome 110.2NOG, ROR2
5stapes ankylosis with broad thumb and toes10.2GDF5, NOG
6multiple synostoses syndrome 210.2BMPR1B, GDF5
7charcot-marie-tooth disease type 710.1BMPR1B, GDF5
8glutamate formiminotransferase deficiency10.1BMPR1B, GDF5, NOG
9pulmonary fibrosis10.1BMP2, BMP7
10nocardiosis10.1BMP7, GDF5
11juvenile onset parkinson disease 19a10.1BMP2, BMP4
12cerebrotendinous xanthomatosis10.1BMPR1B, GDF5
13bronchus cancer10.1BMP2, GDF5
14immunodeficiency, common variable, 1210.1BMP2, BMPR1B, GDF5
15splenic flexure cancer10.0BMP2, BMP4, NOG
16pharyngitis10.0BMP2, BMP4, NOG
17systemic scleroderma10.0BMP2, BMP7, GDF5
18bone resorption disease10.0BMP2, BMP7, GDF5
19ovarian epithelial cancer10.0BMP2, BMPR1B, FGF9
20brachydactyly, type b210.0NOG, ROR2, YIPF2
21physical disorder10.0BMP2, BMP7, GDF5
22premature ovarian failure10.0
23t cell immunodeficiency primary9.9BMP2, BMP4, FGF9, NOG
24salt and pepper syndrome9.9BMP2, BMP4
25acth-independent macronodular adrenal hyperplasia9.9BMP2, BMP4, BMP7, NOG
26muscular dystrophy-dystroglycanopathy9.9BMP2, BMPR1B, GDF5, NOG, ROR2
27brachydactyly, type c9.8
28brachydactyly9.8
29synostosis9.8
30androgenic alopecia8.9BMP4, BMPR1B, CSF1R, FGF9, GDF5, NOG
31multiple synostoses syndrome8.5BMP2, BMP4, BMP7, BMPR1B, CSF1R, FGF9

Graphical network of the top 20 diseases related to Proximal Symphalangism:



Diseases related to proximal symphalangism

Symptoms & Phenotypes for Proximal Symphalangism

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Human phenotypes related to Proximal Symphalangism:

 54 64 (show all 15)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment64 54 Frequent (79-30%) HP:0000407
2 strabismus64 54 Occasional (29-5%) HP:0000486
3 brachydactyly syndrome64 54 Frequent (79-30%) HP:0001156
4 abnormality of the metacarpal bones54 Frequent (79-30%)
5 abnormality of the wrist54 Occasional (29-5%)
6 elbow dislocation64 54 Frequent (79-30%) HP:0003042
7 elbow ankylosis64 54 Frequent (79-30%) HP:0003070
8 clinodactyly of the 5th finger64 54 Occasional (29-5%) HP:0004209
9 synostosis of carpal bones64 54 Very frequent (99-80%) HP:0005048
10 metacarpophalangeal synostosis64 54 Frequent (79-30%) HP:0005880
11 finger syndactyly64 54 Occasional (29-5%) HP:0006101
12 tarsal synostosis64 54 Very frequent (99-80%) HP:0008368
13 finger clinodactyly54 Frequent (79-30%)
14 proximal symphalangism64 54 Very frequent (99-80%) HP:0100264
15 camptodactyly of finger64 54 Very frequent (99-80%) HP:0100490

GenomeRNAi Phenotypes related to Proximal Symphalangism according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00230-A-110.2BMPR1B, CSF1R, ROR2

MGI Mouse Phenotypes related to Proximal Symphalangism according to GeneCards Suite gene sharing:

41 (show all 15)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.2BMP2, BMP4, BMP7, FGF9, NOG, ROR2
2MP:00053798.8BMP4, BMP7, BMPR1B, CSF1R, FGF9, NOG
3MP:00053888.8BMP4, BMP7, FGF9, NOG, ROR2, WNT2
4MP:00053778.7BMP2, BMP4, BMP7, CSF1R, FGF9, NOG
5MP:00028738.6BMP2, BMP4, BMP7, BMPR1B, CSF1R, FGF9
6MP:00053918.5BMP4, BMP7, BMPR1B, FGF9, NOG, ROR2
7MP:00053858.4BMP2, BMP4, BMP7, FGF9, NOG, ROR2
8MP:00053808.4BMP2, BMP4, BMP7, BMPR1B, NOG, ROR2
9MP:00053828.3BMP2, BMP4, BMP7, BMPR1B, CSF1R, FGF9
10MP:00053718.0BMP2, BMP4, BMP7, BMPR1B, CSF1R, FGF9
11MP:00053898.0BMP2, BMP4, BMP7, BMPR1B, CSF1R, FGF9
12MP:00053847.9BMP2, BMP4, BMPR1B, CSF1R, FGF9, NOG
13MP:00053907.9BMP2, BMP4, BMP7, BMPR1B, CSF1R, FGF9
14MP:00053787.2BMP2, BMP4, BMP7, BMPR1B, CSF1R, FGF9
15MP:00107687.2BMP2, BMP4, BMP7, BMPR1B, CSF1R, FGF9

Drugs & Therapeutics for Proximal Symphalangism

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of Skeletal Disorders and Short StatureCompletedNCT00001754
2Treatment of Proximal Interphalangeal Joint Injuries. Clinical Efficiency of Syndactyly Treatment and Digital CompressionRecruitingNCT02548260

Search NIH Clinical Center for Proximal Symphalangism

Genetic Tests for Proximal Symphalangism

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Genetic tests related to Proximal Symphalangism:

id Genetic test Affiliating Genes
1 Cushing's Symphalangism27
2 Proximal Symphalangism24 NOG

Anatomical Context for Proximal Symphalangism

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MalaCards organs/tissues related to Proximal Symphalangism:

36
Bone

Publications for Proximal Symphalangism

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Articles related to Proximal Symphalangism:

(show all 19)
idTitleAuthorsYear
1
Recurrent missense mutation of GDF5 (p.R438L) causes proximal symphalangism in a British family. (28032038)
2016
2
A Novel Missense Mutation of NOG Interferes With the Dimerization of NOG and Causes Proximal Symphalangism Syndrome in a Chinese Family. (25888563)
2015
3
A mutation in the heparin-binding site of noggin as a novel mechanism of proximal symphalangism and conductive hearing loss. (24735539)
2014
4
Identification of a novel NOG mutation in a Chinese family with proximal symphalangism. (24326127)
2014
5
Foot anomalies and proximal symphalangism. (22294466)
2012
6
Proximal symphalangism and premature ovarian failure. (22088931)
2012
7
Proximal symphalangism, hyperopia, conductive hearing impairment, and the NOG gene: 2 new mutations. (21358557)
2011
8
Cushing proximal symphalangism and the NOG and GDF5 genes. (17994231)
2008
9
Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism. (18283415)
2008
10
Premature ovarian failure in a female with proximal symphalangism and Noggin mutation. (15066478)
2004
11
Adult-onset idiopathic progressive acro-osteolysis with proximal symphalangism. (14753748)
2004
12
Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism. (11545688)
2001
13
Proximal symphalangism with "coarse" facial appearance, mixed hearing loss, and chronic renal failure: new malformation syndrome? (11169566)
2001
14
Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome. (11846737)
2001
15
Proximal symphalangism associated with conductive hearing loss. (14635304)
2000
16
Proximal symphalangism and congenital conductive hearing loss: otologic aspects. (10337976)
1999
17
Localization of the gene (SYM1) for proximal symphalangism to human chromosome 17q21-q22. (7557985)
1995
18
Stapes fixation a proximal symphalangism. (5440467)
1970
19
Proximal symphalangism of fingers associated with fusion of os naviculare and talus and occurrence of two accessory bones in the feet (os paranaviculare and os tibiale externum) in an European--Indonesian--Chinese family. (5633139)
1967

Variations for Proximal Symphalangism

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Clinvar genetic disease variations for Proximal Symphalangism:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NOGNM_ 005450.4(NOG): c.665A> G (p.Tyr222Cys)SNVPathogenicrs104894602GRCh37Chr 17, 54672249: 54672249
2NOGNM_ 005450.4(NOG): c.664T> G (p.Tyr222Asp)SNVPathogenicrs121908948GRCh37Chr 17, 54672248: 54672248
3NOGNM_ 005450.4(NOG): c.668C> T (p.Pro223Leu)SNVPathogenicrs104894608GRCh37Chr 17, 54672252: 54672252
4NOGNM_ 005450.4(NOG): c.565G> T (p.Gly189Cys)SNVPathogenicrs104894609GRCh37Chr 17, 54672149: 54672149
5NOGNM_ 005450.4(NOG): c.104C> G (p.Pro35Arg)SNVPathogenicrs104894611GRCh37Chr 17, 54671688: 54671688
6NOGNM_ 005450.4(NOG): c.551G> A (p.Cys184Tyr)SNVPathogenicrs104894612GRCh37Chr 17, 54672135: 54672135
7NOGNM_ 005450.4(NOG): c.386T> A (p.Leu129Ter)SNVPathogenicrs104894613GRCh37Chr 17, 54671970: 54671970
8NOGNM_ 005450.4(NOG): c.103C> T (p.Pro35Ser)SNVPathogenicrs28937580GRCh37Chr 17, 54671687: 54671687

Expression for genes affiliated with Proximal Symphalangism

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Search GEO for disease gene expression data for Proximal Symphalangism.

Pathways for genes affiliated with Proximal Symphalangism

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Pathways related to Proximal Symphalangism according to GeneCards Suite gene sharing:

(show all 31)
idSuper pathwaysScoreTop Affiliating Genes
19.5BMP4, NOG, ROR2
29.4ROR2, WNT2
39.2BMP2, BMP4, BMP7
49.2BMP2, BMP4, BMP7
59.2BMP2, BMP4, BMP7
69.0BMP4, NOG, WNT2
7
Show member pathways
9.0BMP2, BMP7, BMPR1B, NOG
8
Show member pathways
9.0BMP2, BMP4, BMP7, GDF5
99.0BMP2, BMP4, BMP7, GDF5
10
Show member pathways
9.0BMP2, BMP4, BMP7, GDF5
11
Show member pathways
9.0BMP2, BMP4, BMP7, GDF5
128.9BMP4, BMPR1B, WNT2
13
Show member pathways
8.9BMP2, BMP4, BMP7, BMPR1B
148.9BMP2, BMP4, BMP7, BMPR1B
158.7BMP2, BMP4, BMP7, GDF5, NOG
16
Show member pathways
8.5BMP2, BMP4, ROR2, WNT2
17
Show member pathways
8.4BMP2, BMP4, BMP7, CSF1R, GDF5
18
Show member pathways
8.4BMP2, BMP4, BMP7, WNT2
19
Show member pathways
8.3BMP2, BMP4, BMP7, BMPR1B, GDF5, NOG
208.2BMP4, CSF1R, GDF5, NOG, WNT2
21
Show member pathways
8.1BMP2, BMP4, BMP7, CSF1R, GDF5, ROR2
22
Show member pathways
8.1BMP2, BMP4, BMP7, CSF1R, GDF5, ROR2
23
Show member pathways
8.1BMP2, BMP4, BMP7, BMPR1B, CSF1R, GDF5
248.0BMP2, BMP4, CSF1R, FGF9, WNT2
25
Show member pathways
7.8BMP2, BMP4, BMP7, CSF1R, FGF9, GDF5
26
Show member pathways
7.8BMP2, BMP4, BMP7, CSF1R, FGF9, GDF5
27
Show member pathways
7.8BMP2, BMP4, BMP7, BMPR1B, NOG, WNT2
28
Show member pathways
7.8BMP2, BMP4, BMP7, BMPR1B, CSF1R, GDF5
297.8BMP2, BMP4, BMP7, BMPR1B, GDF5, WNT2
30
Show member pathways
7.8BMP2, BMP4, BMP7, BMPR1B, CSF1R, GDF5
31
Show member pathways
7.3BMP2, BMP4, BMP7, CSF1R, GDF5, ROR2

GO Terms for genes affiliated with Proximal Symphalangism

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Cellular components related to Proximal Symphalangism according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00055767.7BMP2, BMP4, BMP7, FGF9, GDF5, NOG
2extracellular spaceGO:00056157.5BMP2, BMP4, BMP7, FGF9, GDF5, NOG

Biological processes related to Proximal Symphalangism according to GeneCards Suite gene sharing:

(show top 50)    (show all 88)
idNameGO IDScoreTop Affiliating Genes
1BMP signaling pathway involved in heart developmentGO:006131210.6BMP4, NOG
2cartilage condensationGO:000150210.6BMPR1B, ROR2
3endoderm developmentGO:000749210.6BMP4, NOG
4lung morphogenesisGO:006042510.6BMP4, NOG
5membranous septum morphogenesisGO:000314910.6BMP4, NOG
6pharyngeal arch artery morphogenesisGO:006162610.6BMP4, NOG
7pituitary gland developmentGO:002198310.6BMP4, NOG
8positive regulation of chondrocyte differentiationGO:003233210.6BMPR1B, GDF5
9negative regulation of chondrocyte differentiationGO:003233110.6BMP4, GDF5
10heart trabecula morphogenesisGO:006138410.6BMP7, NOG
11positive regulation of BMP signaling pathwayGO:003051310.6BMP4, GDF5
12endocardial cushion morphogenesisGO:000320310.6BMP2, NOG
13bone mineralizationGO:003028210.5BMP2, ROR2
14branching morphogenesis of an epithelial tubeGO:004875410.5BMP4, BMP7
15camera-type eye morphogenesisGO:004859310.5BMP4, BMP7
16mesonephros developmentGO:000182310.5BMP4, BMP7
17metanephros developmentGO:000165610.5BMP4, BMP7
18negative regulation of glomerular mesangial cell proliferationGO:007212510.5BMP4, BMP7
19negative regulation of MAP kinase activityGO:004340710.5BMP4, BMP7
20negative regulation of mitotic nuclear divisionGO:004583910.5BMP4, BMP7
21negative regulation of phosphorylationGO:004232610.5BMP4, BMP7
22negative regulation of prostatic bud formationGO:006068610.5BMP4, BMP7
23BMP signaling pathway involved in heart inductionGO:000313010.5BMP2, BMP4
24cardiac muscle cell differentiationGO:005500710.5BMP2, BMP4
25mesenchymal cell proliferation involved in ureteric bud developmentGO:007213810.4BMP2, BMP4
26mesenchyme developmentGO:006048510.4BMP2, BMP7
27macrophage differentiationGO:003022510.4BMP4, CSF1R
28monocyte differentiationGO:003022410.4BMP4, CSF1R
29positive regulation of ossificationGO:004577810.4BMP2, BMP4
30positive regulation of pri-miRNA transcription from RNA polymerase II promoterGO:190289510.4BMP2, BMP4
31embryonic digit morphogenesisGO:004273310.3BMP4, NOG, ROR2
32protein localization to nucleusGO:003450410.3BMP4, BMP7
33embryonic skeletal system developmentGO:004870610.3BMP4, FGF9, NOG
34regulation of branching involved in prostate gland morphogenesisGO:006068710.3BMP4, BMP7
35regulation of pathway-restricted SMAD protein phosphorylationGO:006039310.3BMP4, BMP7
36transmembrane receptor protein serine/threonine kinase signaling pathwayGO:000717810.3BMPR1B, GDF5
37regulation of odontogenesis of dentin-containing toothGO:004248710.3BMP2, BMP4
38positive regulation of epithelial cell proliferationGO:005067910.3BMP4, FGF9, NOG
39anatomical structure formation involved in morphogenesisGO:004864610.2BMP4, BMP7, NOG
40negative regulation of canonical Wnt signaling pathwayGO:009009010.2BMP2, NOG, ROR2
41embryonic skeletal joint morphogenesisGO:006027210.2BMP4, BMP7, NOG
42mesoderm formationGO:000170710.2BMP4, BMP7, NOG
43atrial cardiac muscle tissue morphogenesisGO:005500910.2NOG, WNT2
44eye developmentGO:000165410.2BMP7, BMPR1B, FGF9
45negative regulation of gene expressionGO:001062910.2BMP2, BMP4, NOG
46epithelial to mesenchymal transitionGO:000183710.1BMP2, BMP7, NOG
47mesenchymal cell differentiationGO:004876210.1BMP2, BMP7, NOG
48cell developmentGO:004846810.1BMP2, BMP7, GDF5
49telencephalon developmentGO:002153710.1BMP2, BMP4
50telencephalon regionalizationGO:002197810.1BMP2, BMP4

Molecular functions related to Proximal Symphalangism according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1cytokine bindingGO:001995510.3CSF1R, NOG
2co-receptor bindingGO:003970610.3BMP2, BMP4
3frizzled bindingGO:000510910.0ROR2, WNT2
4heparin bindingGO:000820110.0BMP4, BMP7, FGF9
5BMP receptor bindingGO:00707009.9BMP2, BMP4, BMP7
6protein tyrosine kinase activityGO:00047139.8CSF1R, FGF9, ROR2
7growth factor activityGO:00080839.3BMP2, BMP4, BMP7, FGF9, GDF5
8transforming growth factor beta receptor bindingGO:00051609.0BMP2, BMP4, BMP7, GDF5
9cytokine activityGO:00051258.8BMP2, BMP4, BMP7, GDF5, WNT2

Sources for Proximal Symphalangism

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet