MCID: PRX021
MIFTS: 51

Proximal Symphalangism malady

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

Aliases & Classifications for Proximal Symphalangism

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Sources:
45NIH Rare Diseases, 65UMLS, 10Disease Ontology, 22GeneTests, 12DISEASES, 51Orphanet, 11diseasecard, 47Novoseek, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Proximal Symphalangism:

Name: Proximal Symphalangism 10 45 22 12 51
Symphalangism, Proximal 11 47 65
Symphalangism, Cushing Type 51 24
Symphalangism, Proximal, 1a 45 65
Cushing's Symphalangism 10 45
Hereditary Absence of the Proximal Interphalangeal Joints 22
 
Strasburger-Hawkins-Eldridge-Hargrave-Mckusick Syndrome 45
Hereditary Absence of Proximal Interphalangeal Joints 45
Strasburger-Hawkins-Eldridge Syndrome 45
Symphalangism, Proximal, 1b 45
Cushing Symphalangism 22
Vessel’s Syndrome 45

Characteristics:

Orphanet epidemiological data:

51
proximal symphalangism:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Disease Ontology10 DOID:0050788
Orphanet51 3250
ICD10 via Orphanet28 Q70.9
MESH via Orphanet37 C536223
UMLS via Orphanet66 C1861385
UMLS65 C1861385, C3714899

Summaries for Proximal Symphalangism

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NIH Rare Diseases:45 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 symphalangism, proximal, 1a, and has symptoms including synostosis of carpal bones, tarsal synostosis and symphalangism affecting the phalanges of the hand. 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, thyroid and spinal cord, and related mouse phenotypes are digestive/alimentary and endocrine/exocrine gland.

Disease Ontology:10 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 37)
idRelated DiseaseScoreTop Affiliating Genes
1symphalangism, proximal, 1b34.8BMPR1B, GDF5
2symphalangism, proximal, 1a10.6
3robinow syndrome, autosomal recessive10.3NOG, ROR2
4immunodeficiency 28, mycobacteriosis10.3GDF5, NOG
5ring chromosome y10.3BMPR1B, GDF5
6chondrodysplasia, grebe type10.3BMPR1B, GDF5
7brachydactyly, type a110.3BMPR1B, GDF5
8gastric cancer10.2
9hepatitis10.2
10pemphigus vulgaris10.2
11chronic venous insufficiency10.2
12venous insufficiency10.2
13crimean-congo hemorrhagic fever10.2
14von willebrand's disease10.2
15hepatitis c10.2
16pancreatitis10.2
17thyroiditis10.2
18pemphigus10.2
19hemorrhagic fever10.2
20syngnathia cleft palate10.2BMP2, GDF5
21mucocele of appendix10.1BMP2, GDF5
22atherosclerosis10.1BMP2, NOG
23vulvar benign neoplasm10.0BMP2, BMP4
24ischemic bone disease10.0BMP2, GDF5
25bone resorption disease10.0BMP2, GDF5
26colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas10.0BMP2, BMP4
27acromesomelic dysplasia, demirhan type10.0BMP2, BMPR1B, GDF5
28stapes ankylosis with broad thumb and toes10.0NOG, ROR2, YIPF2
29pseudopseudohypoparathyroidism10.0BMP2, BMP4, NOG
30osteodysplasia familial anderson type10.0BMP2, BMPR1B, FGF9
31albright's hereditary osteodystrophy10.0BMPR1B, GDF5, PAEP
32dicrocoeliasis10.0BMP2, BMP4, NOG
33dengue disease10.0BMP2, GDF5
34gummatous syphilis10.0BMPR1B, GDF5, NOG, ROR2
35fibrodysplasia ossificans progressiva9.9BMP4, NOG
36cone dystrophy8.2BMP4, BMPR1B, CSF1R, FGF9, GDF5, NOG
37persistent mullerian duct syndrome7.6BMP2, BMP4, BMPR1B, CSF1R, FGF9, GDF5

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



Diseases related to proximal symphalangism

Symptoms for Proximal Symphalangism

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Symptoms:

 51 (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 12)
id Description Frequency HPO Source Accession
1 synostosis of carpal bones hallmark (90%) HP:0005048
2 tarsal synostosis hallmark (90%) HP:0008368
3 symphalangism affecting the phalanges of the hand hallmark (90%) HP:0009773
4 camptodactyly of finger hallmark (90%) HP:0100490
5 sensorineural hearing impairment typical (50%) HP:0000407
6 brachydactyly syndrome typical (50%) HP:0001156
7 abnormality of the metacarpal bones typical (50%) HP:0001163
8 humeroradial synostosis typical (50%) HP:0003041
9 elbow dislocation typical (50%) HP:0003042
10 strabismus occasional (7.5%) HP:0000486
11 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
12 finger syndactyly occasional (7.5%) HP:0006101

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 CompressionNot yet recruitingNCT02548260

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 Symphalangism22 NOG

Anatomical Context for Proximal Symphalangism

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MalaCards organs/tissues related to Proximal Symphalangism:

33
Bone, Thyroid, Spinal cord, Heart, Prostate, T cells

Animal Models for Proximal Symphalangism or affiliated genes

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MGI Mouse Phenotypes related to Proximal Symphalangism:

38 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.8BMP2, BMP4, FGF9, NOG, ROR2
2MP:00053798.7BMP4, BMPR1B, CSF1R, FGF9, NOG, ROR2
3MP:00053888.6BMP4, FGF9, NOG, ROR2, WNT2
4MP:00053808.2BMP2, BMP4, BMPR1B, NOG, ROR2, WNT2
5MP:00053827.9BMP2, BMP4, BMPR1B, CSF1R, FGF9, NOG
6MP:00053777.8BMP2, BMP4, CSF1R, FGF9, NOG, ROR2
7MP:00053717.8BMP2, BMP4, BMPR1B, CSF1R, FGF9, GDF5
8MP:00053897.8BMP2, BMP4, BMPR1B, CSF1R, FGF9, GDF5
9MP:00053907.5BMP2, BMP4, BMPR1B, CSF1R, FGF9, GDF5
10MP:00053847.2BMP2, BMP4, BMPR1B, CSF1R, FGF9, NOG
11MP:00107686.6BMP2, BMP4, BMPR1B, CSF1R, FGF9, GDF5
12MP:00053786.5BMP2, BMP4, BMPR1B, CSF1R, FGF9, GDF5

Publications for Proximal Symphalangism

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Articles related to Proximal Symphalangism:

(show all 18)
idTitleAuthorsYear
1
Description of 214 cases of autoimmune congenital heart block: Results of the French neonatal lupus syndrome. (26284740)
2015
2
Altered hypothalamic protein expression in a rat model of Huntington's disease. (23094041)
2012
3
Delayed complication after embolotherapy of a vertebral arteriovenous fistula: spinal cord ischemia. (20171561)
2010
4
Activation of the TASK-2 channel after cell swelling is dependent on tyrosine phosphorylation. (20631251)
2010
5
Diagnosis and management of essential tremor and dystonic tremor. (21179530)
2009
6
Cinacalcet in the therapy of secondary hyperparathyroidism--own experiences]. (18634360)
2008
7
Influence of human leucocyte antigen-DRB1 on the susceptibility to rheumatoid arthritis and on the production of anti-cyclic citrullinated peptide antibodies in a Portuguese population. (16793843)
2007
8
Autoreactive T cells induce in vitro BM mesenchymal stem cell transdifferentiation to neural stem cells. (16793728)
2006
9
Serum levels of bcl-2 in patients with colorectal cancer. (15655644)
2004
10
Cooperation between ectopic FGFR1 and depression of FGFR2 in induction of prostatic intraepithelial neoplasia in the mouse prostate. (14695195)
2003
11
Comparison of sertraline to fluoxetine with regard to their efficacy and side effects in the treatment of premature ejaculation. (10633973)
1999
12
Structure of the human amyloid-precursor-like protein gene APLP1 at 19q13.1. (9521588)
1998
13
Malignant thyroid lymphoma presenting as acute airway obstruction. (1396183)
1992
14
Vestibular and postural findings in the motion sickness syndrome. (1900614)
1991
15
Differential vulnerability of microtubule components in cerebral ischemia. (2251907)
1990
16
Penicillin: Its use in media for the isolation of H. Influenzae from laryngeal cultures in obstructive laryngitis. (16560738)
1943
17
18

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
1NM_000557.4(GDF5): c.1313G> T (p.Arg438Leu)single nucleotide variantPathogenicrs74315388GRCh37Chr 20, 34021900: 34021900

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 19)
idSuper pathwaysScoreTop Affiliating Genes
19.5BMP4, NOG, ROR2
29.3ROR2, WNT2
3
Show member pathways
9.3BMP2, BMPR1B, NOG
4
Show member pathways
9.2BMP2, BMP4, GDF5
59.2BMP2, BMP4, BMPR1B
69.0BMP2, BMP4, GDF5, NOG
79.0BMP4, NOG, WNT2
8
Show member pathways
8.6BMP4, NOG, WNT2
9
Show member pathways
8.6BMP4, NOG, WNT2
10
Show member pathways
8.5BMP2, BMP4, CSF1R, GDF5, ROR2
11
Show member pathways
8.4BMP2, BMP4, BMPR1B, CSF1R, GDF5
12
Show member pathways
8.4BMP2, BMP4, ROR2, WNT2
138.3BMP2, BMP4, BMPR1B, WNT2
14
Show member pathways
8.1BMP2, BMP4, CSF1R, FGF9, GDF5, ROR2
15
Show member pathways
8.1BMP2, BMP4, BMPR1B, CSF1R, GDF5, ROR2
16
Show member pathways
8.1BMP2, BMP4, BMPR1B, NOG, WNT2
178.0BMP2, BMP4, BMPR1B, GDF5, WNT2
187.9BMP2, BMP4, CSF1R, FGF9, WNT2
19
Show member pathways
7.6BMP2, BMP4, CSF1R, GDF5, ROR2, WNT2

GO Terms for genes affiliated with Proximal Symphalangism

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

(show all 50)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of chondrocyte differentiationGO:003233210.5BMPR1B, GDF5
2cartilage condensationGO:000150210.4BMPR1B, ROR2
3negative regulation of chondrocyte differentiationGO:003233110.4BMP4, GDF5
4dorsal/ventral pattern formationGO:000995310.4BMPR1B, NOG
5embryonic skeletal joint morphogenesisGO:006027210.4BMP4, NOG
6neural tube closureGO:000184310.3BMP4, NOG
7pituitary gland developmentGO:002198310.3BMP4, NOG
8positive regulation of epithelial cell proliferationGO:005067910.3BMP4, NOG
9macrophage differentiationGO:003022510.2BMP4, CSF1R
10mesoderm formationGO:000170710.2BMP4, NOG
11eye developmentGO:000165410.2BMPR1B, FGF9
12smoothened signaling pathwayGO:000722410.2BMP4, ROR2
13BMP signaling pathway involved in heart inductionGO:000313010.2BMP2, BMP4
14retina development in camera-type eyeGO:006004110.2BMP4, BMPR1B
15mesenchymal cell proliferation involved in ureteric bud developmentGO:007213810.2BMP2, BMP4
16regulation of odontogenesis of dentin-containing toothGO:004248710.2BMP2, BMP4
17epithelial to mesenchymal transitionGO:000183710.1BMP2, NOG
18positive regulation of MAPK cascadeGO:004341010.1BMP2, FGF9
19telencephalon developmentGO:002153710.1BMP2, BMP4
20positive regulation of ossificationGO:004577810.1BMP2, BMP4
21embryonic digit morphogenesisGO:004273310.0BMP4, NOG, ROR2
22positive regulation of osteoblast differentiationGO:004566910.0BMP2, BMP4
23embryonic skeletal system developmentGO:004870610.0BMP4, FGF9, NOG
24positive regulation of pathway-restricted SMAD protein phosphorylationGO:001086210.0BMP2, BMP4
25odontogenesis of dentin-containing toothGO:00424759.9BMP2, BMP4
26positive regulation of protein bindingGO:00320929.9BMP2, BMP4
27cellular response to BMP stimulusGO:00717739.8BMP4, BMPR1B, NOG
28positive regulation of mesenchymal cell proliferationGO:00020539.8FGF9, WNT2
29positive regulation of cartilage developmentGO:00610369.8BMP2, BMP4, BMPR1B
30positive regulation of cardiac muscle cell proliferationGO:00600459.8FGF9, WNT2
31anatomical structure formation involved in morphogenesisGO:00486469.8BMP4, NOG
32skeletal system developmentGO:00015019.8BMP4, BMPR1B, NOG
33growthGO:00400079.7BMP2, BMP4, GDF5
34positive regulation of cell differentiationGO:00455979.6BMP2, BMP4, BMPR1B
35negative regulation of gene expressionGO:00106299.5BMP2, BMP4, NOG
36positive regulation of ERK1 and ERK2 cascadeGO:00703749.5BMP2, BMP4, CSF1R
37extracellular matrix organizationGO:00301989.5BMP2, BMP4, GDF5
38positive regulation of protein phosphorylationGO:00019349.4BMP2, BMP4, CSF1R
39SMAD protein signal transductionGO:00603959.4BMP2, BMP4, GDF5, ROR2
40embryonic limb morphogenesisGO:00303269.3BMP4, FGF9, GDF5
41positive regulation of canonical Wnt signaling pathwayGO:00902639.3FGF9, ROR2, WNT2
42positive regulation of gene expressionGO:00106289.2BMP2, BMP4, FGF9
43negative regulation of transcription from RNA polymerase II promoterGO:00001229.2BMP2, BMP4, FGF9, NOG
44chondrocyte differentiationGO:00020629.1BMP2, BMP4, BMPR1B, FGF9, GDF5
45positive regulation of cell proliferationGO:00082849.1BMP4, FGF9, WNT2
46lung developmentGO:00303249.0BMP4, FGF9, WNT2
47osteoblast differentiationGO:00016499.0BMP2, BMP4, NOG
48cell fate commitmentGO:00451658.9BMP2, BMP4, ROR2, WNT2
49BMP signaling pathwayGO:00305098.7BMP2, BMP4, BMPR1B, GDF5, NOG, ROR2
50positive regulation of transcription from RNA polymerase II promoterGO:00459448.5BMP2, BMP4, NOG, WNT2

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

idNameGO IDScoreTop Affiliating Genes
1SMAD bindingGO:00463329.6BMP2, BMPR1B

Sources for Proximal Symphalangism

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet