MCID: PRX021
MIFTS: 45

Proximal Symphalangism malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Proximal Symphalangism

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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 based summary: Proximal Symphalangism, also known as symphalangism, proximal, is related to brachydactyly and premature ovarian failure, and has symptoms including carpal bones fusion/synostosis, symphalangy of fingers and camptodactyly of some 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:8 An autosomal dominant disease that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness.

Descriptions from OMIM:46 185800,615298

Aliases & Classifications for Proximal Symphalangism

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Proximal Symphalangism, Aliases & Descriptions:

Name: Proximal Symphalangism 8 42 48
Symphalangism, Proximal 9 20 46 44 62
Cushing's Symphalangism 8 42 22
Strasburger-Hawkins-Eldridge-Hargrave-Mckusick Syndrome 42 62
 
Hereditary Absence of Proximal Interphalangeal Joints 42 62
Strasburger-Hawkins-Eldridge Syndrome 42 62
Symphalangism, Cushing Type 48
Vessel’s Syndrome 42


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:0050788
MESH via Orphanet35 C536223
ICD10 via Orphanet26 Q70.9
UMLS via Orphanet63 C1861385

Related Diseases for Proximal Symphalangism

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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 11)
idRelated DiseaseScoreTop Affiliating Genes
1brachydactyly29.9NOG, GDF5
2premature ovarian failure10.3
3symphalangism, proximal, 1b10.3
4tarsal-carpal coalition syndrome10.2
5synostosis10.2
6brachydactyly type c10.2
7symphalangism familial proximal10.2
8hyperopia10.2
9multiple synostosis syndrome 110.1NOG
10syndactyly9.9GDF5, NOG
11ankylosis9.8GDF5, NOG

Graphical network of diseases related to Proximal Symphalangism:



Diseases related to proximal symphalangism

Symptoms for Proximal Symphalangism

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Symptoms by clinical synopsis from OMIM:

185800

Clinical features from OMIM:

185800,615298

Symptoms:

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

HPO human phenotypes related to Proximal Symphalangism:

(show all 23)
id Description Frequency HPO Source Accession
1 proximal symphalangism (hands) hallmark (90%) HP:0006152
2 synostosis of carpal bones hallmark (90%) HP:0005048
3 tarsal synostosis hallmark (90%) HP:0008368
4 symphalangism affecting the phalanges of the hand hallmark (90%) HP:0009773
5 camptodactyly of finger hallmark (90%) HP:0100490
6 tarsal synostosis common (75%) HP:0008368
7 carpal synostosis common (75%) HP:0009702
8 stapes ankylosis typical (50%) HP:0000381
9 conductive hearing impairment typical (50%) HP:0000405
10 sensorineural hearing impairment typical (50%) HP:0000407
11 brachydactyly syndrome typical (50%) HP:0001156
12 abnormality of the metacarpal bones typical (50%) HP:0001163
13 humeroradial synostosis typical (50%) HP:0003041
14 elbow dislocation typical (50%) HP:0003042
15 aplasia/hypoplasia of the middle phalanges of the hand occasional (7.5%) HP:0009843
16 aplasia/hypoplasia of the middle phalanges of the toes occasional (7.5%) HP:0010194
17 strabismus occasional (7.5%) HP:0000486
18 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
19 finger syndactyly occasional (7.5%) HP:0006101
20 distal symphalangism (hands) rare (5%) HP:0001204
21 metacarpophalangeal synostosis very rare (1%) HP:0005880
22 autosomal dominant inheritance HP:0000006
23 short 5th metacarpal HP:0010047

Drugs & Therapeutics for Proximal Symphalangism

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Drug clinical trials:

Search ClinicalTrials for Proximal Symphalangism

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 Proximal Symphalangism20 NOG
2 Cushing's Symphalangism22

Anatomical Context for Proximal Symphalangism

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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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MGI Mouse Phenotypes related to Proximal Symphalangism:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053899.1NOG, GDF5
2MP:00053908.8NOG, GDF5

Publications for Proximal Symphalangism

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Articles related to Proximal Symphalangism:

(show all 16)
idTitleAuthorsYear
1
A mutation in the heparin-binding site of noggin as a novel mechanism of proximal symphalangism and conductive hearing loss. (24735539)
2014
2
Identification of a novel NOG mutation in a Chinese family with proximal symphalangism. (24326127)
2014
3
Proximal symphalangism and premature ovarian failure. (22088931)
2012
4
Proximal symphalangism, hyperopia, conductive hearing impairment, and the NOG gene: 2 new mutations. (21358557)
2011
5
Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism. (18283415)
2008
6
Cushing proximal symphalangism and the NOG and GDF5 genes. (17994231)
2008
7
Adult-onset idiopathic progressive acro-osteolysis with proximal symphalangism. (14753748)
2004
8
Premature ovarian failure in a female with proximal symphalangism and Noggin mutation. (15066478)
2004
9
Proximal symphalangism with "coarse" facial appearance, mixed hearing loss, and chronic renal failure: new malformation syndrome? (11169566)
2001
10
Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism. (11545688)
2001
11
Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome. (11846737)
2001
12
Proximal symphalangism associated with conductive hearing loss. (14635304)
2000
13
Proximal symphalangism and congenital conductive hearing loss: otologic aspects. (10337976)
1999
14
Localization of the gene (SYM1) for proximal symphalangism to human chromosome 17q21-q22. (7557985)
1995
15
Stapes fixation a proximal symphalangism. (5440467)
1970
16
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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UniProtKB/Swiss-Prot genetic disease variations for Proximal Symphalangism:

64
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:

6 (show all 11)
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
9GDF5NM_000557.4(GDF5): c.1313G> T (p.Arg438Leu)single nucleotide variantPathogenicrs74315388GRCh37Chr 20, 34021900: 34021900
10GDF5NM_000557.4(GDF5): c.1471G> A (p.Glu491Lys)single nucleotide variantPathogenicrs74315389GRCh37Chr 20, 34021742: 34021742
11GDF5NM_000557.4(GDF5): c.1118T> G (p.Leu373Arg)single nucleotide variantPathogenicrs121909349GRCh37Chr 20, 34022095: 34022095

Expression for genes affiliated with Proximal Symphalangism

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

idCompoundScoreTop Affiliating Genes
1tyrosine449.1NOG, GDF5
2cysteine448.8NOG, GDF5

GO Terms for genes affiliated with Proximal Symphalangism

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet