MCID: PRX021
MIFTS: 43

Proximal Symphalangism malady

Bone diseases, Fetal diseases categories

Summaries for Proximal Symphalangism

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8Disease Ontology, 42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 synostosis and brachydactyly, and has symptoms including clinodactyly of fifth finger, syndactyly of fingers/interdigital palm and wrist/carpal anomalies. 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 compound cysteine have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotype limbs/digits/tail.

Disease Ontology:8 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:46 185800,615298

Aliases & Classifications for Proximal Symphalangism

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8Disease Ontology, 42NIH Rare Diseases, 48Orphanet, 22GTR, 9diseasecard, 20GeneTests, 46OMIM, 44Novoseek, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
proximal symphalangism:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy


Aliases & Descriptions:

proximal symphalangism 8 42 48
symphalangism, proximal 9 20 46 44 60
cushing's symphalangism 8 42 22
strasburger-hawkins-eldridge-hargrave-mckusick syndrome 42
hereditary absence of proximal interphalangeal joints 42
strasburger-hawkins-eldridge syndrome 42
symphalangism, cushing type 48
vessel’s syndrome 42


External Ids:

Disease Ontology8 DOID:0050788
MESH via Orphanet35 C536223
ICD10 via Orphanet26 Q70.9
UMLS via Orphanet61 C1861385

Related Diseases for Proximal Symphalangism

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Sources:
17GeneCards, 18GeneDecks
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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:

idRelated DiseaseScoreTop Affiliating Genes
1synostosis30.1NOG
2brachydactyly30.1GDF5, NOG
3premature ovarian failure10.3
4symphalangism, proximal, 1b10.3
5tarsal-carpal coalition syndrome10.1
6symphalangism familial proximal10.1
7ankylosis10.0GDF5, NOG
8hypertrophy of breast10.0GDF5, NOG
9syndactyly10.0NOG, GDF5

Graphical network of diseases related to Proximal Symphalangism:



Diseases related to proximal symphalangism

Clinical Features for Proximal Symphalangism

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46OMIM, 48Orphanet
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Clinical features from OMIM:

185800,615298

Clinical synopsis from OMIM:

185800

Symptoms:

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

Drugs & Therapeutics for Proximal Symphalangism

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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20GeneTests, 22GTR
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Genetic tests related to Proximal Symphalangism:

id Genetic test Affiliating Genes
1 Proximal Symphalangism20 NOG
2 Cushing's Symphalangism22

Anatomical Context for Proximal Symphalangism

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32MalaCards
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MalaCards organs/tissues related to Proximal Symphalangism:

32
Bone

Animal Models for Proximal Symphalangism or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Proximal Symphalangism:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1NOG, GDF5

Publications for Proximal Symphalangism

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50PubMed
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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

Genetic Variations for Proximal Symphalangism

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Proximal Symphalangism:

62
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

Expression for genes affiliated with Proximal Symphalangism

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1BioGPS, 15Gene 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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55SinoBiological, 29KEGG
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Pathways related to Proximal Symphalangism according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1NOG, GDF5
29.1NOG, GDF5

Compounds for genes affiliated with Proximal Symphalangism

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44Novoseek
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Compounds related to Proximal Symphalangism according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cysteine449.1NOG, GDF5

GO Terms for genes affiliated with Proximal Symphalangism

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16Gene Ontology
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Cellular components related to Proximal Symphalangism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056159.1NOG, GDF5

Biological processes related to Proximal Symphalangism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cartilage developmentGO:0512169.1NOG, GDF5

Products for genes affiliated with Proximal Symphalangism

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Proximal Symphalangism

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet