MCID: PRX021
MIFTS: 44

Proximal Symphalangism malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Summaries for Proximal Symphalangism

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9Disease Ontology, 44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 Cushing's symphalangism, which is also called proximal 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: Proximal Symphalangism, also known as symphalangism, proximal, is related to brachydactyly and premature ovarian failure, and has symptoms including humeroradial fusion, tarsal anomaly/fusion/synostosis and symphalangy of fingers. An important gene associated with Proximal Symphalangism is NOG (noggin), and among its related pathways are TGF-beta Signaling Pathway and TGF-beta Signaling Pathway. The compounds tyrosine and cysteine have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are reproductive system and skeleton.

Disease Ontology:9 An autosomal dominant disease that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness.

Description from OMIM:48 185800,615298

Aliases & Classifications for Proximal Symphalangism

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9Disease Ontology, 44NIH Rare Diseases, 50Orphanet, 23GTR, 10diseasecard, 21GeneTests, 48OMIM, 46Novoseek, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

50
proximal symphalangism:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy


Aliases & Descriptions:

proximal symphalangism 9 44 50
symphalangism, proximal 10 21 48 46 63
cushing's symphalangism 9 44 23
strasburger-hawkins-eldridge-hargrave-mckusick syndrome 44
hereditary absence of proximal interphalangeal joints 44
strasburger-hawkins-eldridge syndrome 44
symphalangism, cushing type 50
vessel’s syndrome 44


External Ids:

Disease Ontology9 DOID:0050788
MESH via Orphanet37 C536223
ICD10 via Orphanet27 Q70.9
UMLS via Orphanet64 C1861385

Related Diseases for Proximal Symphalangism

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18GeneCards, 19GeneDecks
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Diseases in the Proximal Symphalangism family:

Symphalangism Familial Proximal Symphalangism, Proximal, 1b

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

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1brachydactyly30.2NOG, GDF5
2premature ovarian failure10.3
3symphalangism, proximal, 1b10.3
4tarsal-carpal coalition syndrome10.1
5synostosis10.1
6brachydactyly type c10.1
7symphalangism familial proximal10.1
8hyperopia10.1
9multiple synostosis syndrome 110.0NOG
10ankylosis10.0GDF5, NOG
11hypertrophy of breast10.0GDF5, NOG
12syndactyly9.9GDF5, NOG

Graphical network of diseases related to Proximal Symphalangism:



Diseases related to proximal symphalangism

Symptoms for Proximal Symphalangism

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

185800

Clinical features from OMIM:

185800,615298

Symptoms:

50 (show all 15)
  • humeroradial fusion
  • tarsal anomaly/fusion/synostosis
  • symphalangy of fingers
  • camptodactyly of some fingers
  • carpal bones fusion/synostosis
  • elbow dislocation
  • clinodactyly of fifth finger
  • strabismus/squint
  • short hand/brachydactyly
  • wrist/carpal anomalies
  • metacarpal anomalies/archibald's sign
  • sensorineural deafness/hearing loss
  • autosomal dominant inheritance
  • clinodactyly of fingers 1,2,3,4/overlapping fingers
  • syndactyly of fingers/interdigital palm

Drugs & Therapeutics for Proximal Symphalangism

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Proximal Symphalangism

Drug clinical trials:

Search ClinicalTrials for Proximal Symphalangism

Search NIH Clinical Center for Proximal Symphalangism

Search CenterWatch for Proximal Symphalangism

Genetic Tests for Proximal Symphalangism

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21GeneTests, 23GTR
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Genetic tests related to Proximal Symphalangism:

id Genetic test Affiliating Genes
1 Proximal Symphalangism21 NOG
2 Cushing's Symphalangism23

Anatomical Context for Proximal Symphalangism

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34MalaCards
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MalaCards organs/tissues related to Proximal Symphalangism:

34
Bone

Animal Models for Proximal Symphalangism or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Proximal Symphalangism:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053899.1NOG, GDF5
2MP:00053908.8NOG, GDF5

Publications for Proximal Symphalangism

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53PubMed
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Articles related to Proximal Symphalangism:

idTitleAuthorsYear
1
Proximal symphalangism and premature ovarian failure. (22088931)
2012
2
Proximal symphalangism, hyperopia, conductive hearing impairment, and the NOG gene: 2 new mutations. (21358557)
2011
3
Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism. (18283415)
2008
4
Cushing proximal symphalangism and the NOG and GDF5 genes. (17994231)
2008
5
Premature ovarian failure in a female with proximal symphalangism and Noggin mutation. (15066478)
2004
6
Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism. (11545688)
2001
7
Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome. (11846737)
2001
8
Localization of the gene (SYM1) for proximal symphalangism to human chromosome 17q21-q22. (7557985)
1995

Variations for Proximal Symphalangism

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Proximal Symphalangism:

65
id Symbol AA change Variation ID SNP ID
1NOGp.Pro35ArgVAR_011361
2NOGp.Gly189CysVAR_011362
3NOGp.Ile220AsnVAR_011364
4NOGp.Tyr222CysVAR_011365
5NOGp.Tyr222AspVAR_011366
6NOGp.Pro223LeuVAR_011367
7NOGp.Pro35SerVAR_018324rs28937580
8NOGp.Cys184TyrVAR_018325
9NOGp.Trp205CysVAR_037605

Clinvar genetic disease variations for Proximal Symphalangism:

1
id Gene Name Type Significance SNP ID Assembly Location
1NOGNM_005450.4(NOG): c.665A> G (p.Tyr222Cys)single nucleotide variantPathogenicrs104894602GRCh37Chr 17, 54672249: 54672249
2NOGNM_005450.4(NOG): c.664T> G (p.Tyr222Asp)single nucleotide variantPathogenicrs121908948GRCh37Chr 17, 54672248: 54672248
3NOGNM_005450.4(NOG): c.668C> T (p.Pro223Leu)single nucleotide variantPathogenicrs104894608GRCh37Chr 17, 54672252: 54672252
4NOGNM_005450.4(NOG): c.565G> T (p.Gly189Cys)single nucleotide variantPathogenicrs104894609GRCh37Chr 17, 54672149: 54672149
5NOGNM_005450.4(NOG): c.104C> G (p.Pro35Arg)single nucleotide variantPathogenicrs104894611GRCh37Chr 17, 54671688: 54671688
6NOGNM_005450.4(NOG): c.551G> A (p.Cys184Tyr)single nucleotide variantPathogenicrs104894612GRCh37Chr 17, 54672135: 54672135
7NOGNM_005450.4(NOG): c.386T> A (p.Leu129Ter)single nucleotide variantPathogenicrs104894613GRCh37Chr 17, 54671970: 54671970
8NOGNM_005450.4(NOG): c.103C> T (p.Pro35Ser)single nucleotide variantPathogenicrs28937580GRCh37Chr 17, 54671687: 54671687

Expression for genes affiliated with Proximal Symphalangism

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Proximal Symphalangism

Search GEO for disease gene expression data for Proximal Symphalangism.

Pathways for genes affiliated with Proximal Symphalangism

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51PathCards, 58SinoBiological, 31KEGG
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Pathways related to Proximal Symphalangism according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1NOG, GDF5
2
Show member pathways
9.1NOG, GDF5

Compounds for genes affiliated with Proximal Symphalangism

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46Novoseek
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Compounds related to Proximal Symphalangism according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tyrosine469.1NOG, GDF5
2cysteine468.8NOG, GDF5

GO Terms for genes affiliated with Proximal Symphalangism

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17Gene Ontology
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Cellular components related to Proximal Symphalangism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055769.1NOG, GDF5
2extracellular spaceGO:0056158.8NOG, GDF5

Products for genes affiliated with Proximal Symphalangism

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Proximal Symphalangism

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet