MCID: SYM013
MIFTS: 40

Symphalangism, Proximal malady

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

Summaries for Symphalangism, Proximal

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NIH Rare Diseases:43 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: Symphalangism, Proximal, also known as proximal symphalangism, is related to brachydactyly and symphalangism, proximal, 1b, and has symptoms including proximal symphalangism (hands), synostosis of carpal bones and tarsal synostosis. An important gene associated with Symphalangism, Proximal is NOG (noggin), and among its related pathways are Cardiac Progenitor Differentiation and Akt Signaling. The compound tyrosine have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are limbs/digits/tail and hearing/vestibular/ear.

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.

OMIM:47 Proximal symphalangism (SYM1) is an autosomal dominant disorder characterized by ankylosis of the proximal... (185800) more...

Aliases & Classifications for Symphalangism, Proximal

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Sources:
47OMIM, 10Disease Ontology, 11diseasecard, 43NIH Rare Diseases, 22GeneTests, 45Novoseek, 49Orphanet, 24GTR, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet
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Symphalangism, Proximal, Aliases & Descriptions:

Name: Symphalangism, Proximal 47 11 45
Proximal Symphalangism 10 43 22 49
Symphalangism, Cushing Type 43 49 24
Cushing's Symphalangism 10 43
 
Strasburger-Hawkins-Eldridge-Hargrave-Mckusick Syndrome 43
Hereditary Absence of Proximal Interphalangeal Joints 43
Strasburger-Hawkins-Eldridge Syndrome 43
Vessel’s Syndrome 43


Classifications:

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


Characteristics (Orphanet epidemiological data):

49
proximal symphalangism:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal


External Ids:

OMIM47 185800
Disease Ontology10 DOID:0050788
Orphanet49 3250
MESH via Orphanet36 C536223
ICD10 via Orphanet28 Q70.9
UMLS via Orphanet63 C1861385

Related Diseases for Symphalangism, Proximal

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Graphical network of diseases related to Symphalangism, Proximal:



Diseases related to symphalangism, proximal

Symptoms for Symphalangism, Proximal

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Symptoms by clinical synopsis from OMIM:

185800

Clinical features from OMIM:

185800

Symptoms:

 49 (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 Symphalangism, Proximal:

(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 Symphalangism, Proximal

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Drug clinical trials:

Search ClinicalTrials for Symphalangism, Proximal

Search NIH Clinical Center for Symphalangism, Proximal

Genetic Tests for Symphalangism, Proximal

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Genetic tests related to Symphalangism, Proximal:

id Genetic test Affiliating Genes
1 Proximal Symphalangism22 NOG
2 Cushing's Symphalangism24

Anatomical Context for Symphalangism, Proximal

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MalaCards organs/tissues related to Symphalangism, Proximal:

33
Bone

Animal Models for Symphalangism, Proximal or affiliated genes

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MGI Mouse Phenotypes related to Symphalangism, Proximal:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537110.1ROR2
2MP:00053779.0NOG, ROR2
3MP:00053908.6NOG, ROR2, GDF5
4MP:00053898.5NOG, ROR2, GDF5
5MP:00107688.5NOG, ROR2, GDF5
6MP:00053788.4GDF5, ROR2, NOG

Publications for Symphalangism, Proximal

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Variations for Symphalangism, Proximal

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UniProtKB/Swiss-Prot genetic disease variations for Symphalangism, Proximal:

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 Symphalangism, Proximal:

7 (show all 11)
id Gene Variation 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 Symphalangism, Proximal

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Search GEO for disease gene expression data for Symphalangism, Proximal.

Pathways for genes affiliated with Symphalangism, Proximal

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Pathways related to Symphalangism, Proximal according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3NOG, ROR2
2
Show member pathways
9.1ROR2, GDF5
3
Show member pathways
9.1ROR2, GDF5
4
Show member pathways
9.1ROR2, GDF5
5
Show member pathways
9.1ROR2, GDF5
6
Show member pathways
9.1ROR2, GDF5
7
Show member pathways
9.1GDF5, ROR2
8
Show member pathways
9.1ROR2, GDF5
9
Show member pathways
9.0NOG, GDF5
109.0GDF5, NOG

Compounds for genes affiliated with Symphalangism, Proximal

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Sources:
45Novoseek
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Compounds related to Symphalangism, Proximal according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tyrosine458.5NOG, ROR2, GDF5

GO Terms for genes affiliated with Symphalangism, Proximal

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of canonical Wnt signaling pathwayGO:00900909.3NOG, ROR2

Products for genes affiliated with Symphalangism, Proximal

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Sources for Symphalangism, Proximal

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet