MCID: SYM022
MIFTS: 47

Symphalangism, Proximal, 1a malady

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

Aliases & Classifications for Symphalangism, Proximal, 1a

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Symphalangism, Proximal, 1a:

Name: Symphalangism, Proximal, 1a 51 47 67
Proximal Symphalangism 11 47 24 53 13
Symphalangism, Proximal 12 49 67
Hereditary Absence of the Proximal Interphalangeal Joints 24 69
Symphalangism, Cushing Type 53 26
Cushing's Symphalangism 11 47
Cushing Symphalangism 24 69
Strasburger-Hawkins-Eldridge-Hargrave-Mckusick Syndrome 47
 
Hereditary Absence of Proximal Interphalangeal Joints 47
Strasburger-Hawkins-Eldridge Syndrome 47
Symphalangism, Proximal, 1b 47
Symphalangism, Proximal 1a 69
Vessel’s Syndrome 47
Sym1a 69
Sym1 69

Characteristics:

Orphanet epidemiological data:

53
proximal symphalangism:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

HPO:

63
symphalangism, proximal, 1a:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 185800
Disease Ontology11 DOID:0050788
Orphanet53 ORPHA3250
UMLS via Orphanet68 C1861385
MESH via Orphanet39 C536223
ICD10 via Orphanet30 Q70.9
MedGen36 C1861385
MeSH38 D007592

Summaries for Symphalangism, Proximal, 1a

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UniProtKB/Swiss-Prot:69 Symphalangism, proximal 1A: A disease characterized by the hereditary absence of the proximal interphalangeal joints. Distal interphalangeal joints are less frequently involved and metacarpophalangeal joints are rarely affected whereas carpal bone malformation and fusion are common. In the lower extremities, tarsal bone coalition is common. Conductive hearing loss is seen and is due to fusion of the stapes to the petrous part of the temporal bone.

MalaCards based summary: Symphalangism, Proximal, 1a, also known as proximal symphalangism, is related to symphalangism, proximal, 1b and robinow syndrome, autosomal recessive, and has symptoms including proximal symphalangism of hands, synostosis of carpal bones and tarsal synostosis. An important gene associated with Symphalangism, Proximal, 1a is NOG (Noggin), and among its related pathways are Cardiac Progenitor Differentiation and Wnt signaling network. Affiliated tissues include bone, and related mouse phenotypes are digestive/alimentary and endocrine/exocrine gland.

Disease Ontology:11 An autosomal dominant disease that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness.

OMIM:51 Proximal symphalangism-1A (SYM1A) is an autosomal dominant disorder characterized by ankylosis of the proximal... (185800) more...

Related Diseases for Symphalangism, Proximal, 1a

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Diseases in the Symphalangism, Proximal, 1a family:

Symphalangism, Proximal, 1b

Diseases related to Symphalangism, Proximal, 1a via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
idRelated DiseaseScoreTop Affiliating Genes
1symphalangism, proximal, 1b34.3BMPR1B, GDF5
2robinow syndrome, autosomal recessive10.5NOG, ROR2
3multiple synostoses syndrome 210.4BMPR1B, GDF5
4brachydactyly, type a110.3BMPR1B, GDF5
5stereotypic movement disorder10.3BMP7, GDF5
6glutamate formiminotransferase deficiency10.2BMPR1B, GDF5, NOG
7osteopetrosis and infantile neuroaxonal dystrophy10.2BMPR1B, FGF9
8pneumatosis cystoides intestinalis10.2BMP2, GDF5
9fibrodysplasia ossificans progressiva10.2BMP4, NOG
10humeroradial synostosis10.1BMP2, BMP4
11acromesomelic dysplasia, demirhan type10.1BMP2, BMPR1B, GDF5
12colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas10.1BMP2, BMP4
13descending colon cancer10.0BMP2, BMP4, NOG
14systemic mastocytosis10.0BMP2, BMP7, GDF5
15vulvovaginitis10.0BMP2, BMP4, NOG
16cervical benign neoplasm10.0BMP2, BMP4
17bone structure disease10.0BMP2, BMP7, GDF5
18brachydactyly, type b210.0NOG, ROR2, YIPF2
19charcot-marie-tooth disease type 510.0BMPR1B, GDF5, PAEP
20premature ovarian failure10.0
21chromosomal disease10.0BMP2, BMP7, GDF5
22idiopathic corneal edema9.9BMP2, BMP4
23tarsal-carpal coalition syndrome9.8
24brachydactyly, type c9.8
25brachydactyly9.8
26synostosis9.8
27syphilitic myelopathy9.8BMP2, BMP4, FGF9, NOG
28bone resorption disease9.7BMP2, BMP7
29congenital generalized lipodystrophy9.6BMP2, BMPR1B, GDF5, NOG, ROR2
30cerebral creatine deficiency syndrome7.5BMP4, BMPR1B, CSF1R, FGF9, GDF5, NOG
31short qt syndrome6.8BMP2, BMP4, BMPR1B, CSF1R, FGF9, GDF5

Graphical network of the top 20 diseases related to Symphalangism, Proximal, 1a:



Diseases related to symphalangism, proximal, 1a

Symptoms for Symphalangism, Proximal, 1a

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Symptoms by clinical synopsis from OMIM:

185800

Clinical features from OMIM:

185800

Human phenotypes related to Symphalangism, Proximal, 1a:

 63 53 (show all 25)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 proximal symphalangism of hands63 hallmark (90%) HP:0006152
2 synostosis of carpal bones63 53 hallmark (90%) Very frequent (99-80%) HP:0005048
3 tarsal synostosis63 53 hallmark (90%) Very frequent (99-80%) HP:0008368
4 symphalangism affecting the phalanges of the hand63 hallmark (90%) HP:0009773
5 camptodactyly of finger63 53 hallmark (90%) Very frequent (99-80%) HP:0100490
6 carpal synostosis63 common (75%) HP:0009702
7 stapes ankylosis63 typical (50%) HP:0000381
8 conductive hearing impairment63 typical (50%) HP:0000405
9 sensorineural hearing impairment63 53 typical (50%) Frequent (79-30%) HP:0000407
10 brachydactyly syndrome63 53 typical (50%) Frequent (79-30%) HP:0001156
11 abnormality of the metacarpal bones63 53 typical (50%) Frequent (79-30%) HP:0001163
12 humeroradial synostosis63 typical (50%) HP:0003041
13 elbow dislocation63 53 typical (50%) Frequent (79-30%) HP:0003042
14 aplasia/hypoplasia of the middle phalanges of the hand63 occasional (7.5%) HP:0009843
15 aplasia/hypoplasia of the middle phalanges of the toes63 occasional (7.5%) HP:0010194
16 strabismus63 53 occasional (7.5%) Occasional (29-5%) HP:0000486
17 clinodactyly of the 5th finger63 53 occasional (7.5%) Occasional (29-5%) HP:0004209
18 finger syndactyly63 53 occasional (7.5%) Occasional (29-5%) HP:0006101
19 distal symphalangism of hands63 rare (5%) HP:0001204
20 metacarpophalangeal synostosis63 53 very rare (1%) Frequent (79-30%) HP:0005880
21 short 5th metacarpal63 HP:0010047
22 abnormality of the wrist53 Occasional (29-5%)
23 elbow ankylosis53 Frequent (79-30%)
24 finger clinodactyly53 Frequent (79-30%)
25 proximal symphalangism53 Very frequent (99-80%)

Drugs & Therapeutics for Symphalangism, Proximal, 1a

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Symphalangism, Proximal, 1a

Genetic Tests for Symphalangism, Proximal, 1a

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Genetic tests related to Symphalangism, Proximal, 1a:

id Genetic test Affiliating Genes
1 Cushing's Symphalangism26
2 Proximal Symphalangism24 NOG

Anatomical Context for Symphalangism, Proximal, 1a

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MalaCards organs/tissues related to Symphalangism, Proximal, 1a:

35
Bone

Animal Models for Symphalangism, Proximal, 1a or affiliated genes

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MGI Mouse Phenotypes related to Symphalangism, Proximal, 1a:

40 (show all 16)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.2BMP2, BMP4, BMP7, FGF9, NOG, ROR2
2MP:00053798.8BMP4, BMP7, BMPR1B, CSF1R, FGF9, NOG
3MP:00053888.8BMP4, BMP7, FGF9, NOG, ROR2, WNT2
4MP:00053778.7BMP2, BMP4, BMP7, CSF1R, FGF9, NOG
5MP:00028738.6BMP2, BMP4, BMP7, BMPR1B, CSF1R, FGF9
6MP:00053918.5BMP4, BMP7, BMPR1B, FGF9, NOG, ROR2
7MP:00053858.4BMP2, BMP4, BMP7, FGF9, NOG, ROR2
8MP:00053808.4BMP2, BMP4, BMP7, BMPR1B, NOG, ROR2
9MP:00053828.3BMP2, BMP4, BMP7, BMPR1B, CSF1R, FGF9
10MP:00053718.0BMP2, BMP4, BMP7, BMPR1B, CSF1R, FGF9
11MP:00053898.0BMP2, BMP4, BMP7, BMPR1B, CSF1R, FGF9
12MP:00053847.9BMP2, BMP4, BMPR1B, CSF1R, FGF9, NOG
13MP:00053907.9BMP2, BMP4, BMP7, BMPR1B, CSF1R, FGF9
14MP:00053787.2BMP2, BMP4, BMP7, BMPR1B, CSF1R, FGF9
15MP:00107687.2BMP2, BMP4, BMP7, BMPR1B, CSF1R, FGF9

Publications for Symphalangism, Proximal, 1a

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Variations for Symphalangism, Proximal, 1a

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UniProtKB/Swiss-Prot genetic disease variations for Symphalangism, Proximal, 1a:

69
id Symbol AA change Variation ID SNP ID
1NOGp.Pro35ArgVAR_011361rs104894611
2NOGp.Gly189CysVAR_011362rs104894609
3NOGp.Ile220AsnVAR_011364
4NOGp.Tyr222CysVAR_011365rs104894602
5NOGp.Tyr222AspVAR_011366rs121908948
6NOGp.Pro223LeuVAR_011367rs104894608
7NOGp.Pro35SerVAR_018324rs28937580
8NOGp.Cys184TyrVAR_018325rs104894612
9NOGp.Trp205CysVAR_037605rs104894615

Clinvar genetic disease variations for Symphalangism, Proximal, 1a:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NOGNM_005450.4(NOG): c.665A> G (p.Tyr222Cys)SNVPathogenicrs104894602GRCh37Chr 17, 54672249: 54672249
2NOGNM_005450.4(NOG): c.664T> G (p.Tyr222Asp)SNVPathogenicrs121908948GRCh37Chr 17, 54672248: 54672248
3NOGNM_005450.4(NOG): c.668C> T (p.Pro223Leu)SNVPathogenicrs104894608GRCh37Chr 17, 54672252: 54672252
4NOGNM_005450.4(NOG): c.565G> T (p.Gly189Cys)SNVPathogenicrs104894609GRCh37Chr 17, 54672149: 54672149
5NOGNM_005450.4(NOG): c.104C> G (p.Pro35Arg)SNVPathogenicrs104894611GRCh37Chr 17, 54671688: 54671688
6NOGNM_005450.4(NOG): c.551G> A (p.Cys184Tyr)SNVPathogenicrs104894612GRCh37Chr 17, 54672135: 54672135
7NOGNM_005450.4(NOG): c.386T> A (p.Leu129Ter)SNVPathogenicrs104894613GRCh37Chr 17, 54671970: 54671970
8NOGNM_005450.4(NOG): c.103C> T (p.Pro35Ser)SNVPathogenicrs28937580GRCh37Chr 17, 54671687: 54671687
9GDF5NM_000557.4(GDF5): c.1313G> T (p.Arg438Leu)SNVPathogenicrs74315388GRCh37Chr 20, 34021900: 34021900

Expression for genes affiliated with Symphalangism, Proximal, 1a

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Search GEO for disease gene expression data for Symphalangism, Proximal, 1a.

Pathways for genes affiliated with Symphalangism, Proximal, 1a

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Pathways related to Symphalangism, Proximal, 1a according to KEGG:

33
id Name KEGG Source Accession
1hsaH00484

Pathways related to Symphalangism, Proximal, 1a according to GeneCards Suite gene sharing:

(show all 28)
idSuper pathwaysScoreTop Affiliating Genes
19.5BMP4, NOG, ROR2
29.4ROR2, WNT2
39.2BMP2, BMP4, BMP7
49.2BMP2, BMP4, BMP7
59.0BMP4, NOG, WNT2
6
Show member pathways
9.0BMP2, BMP7, BMPR1B, NOG
79.0BMP2, BMP4, BMP7, GDF5
8
Show member pathways
9.0BMP2, BMP4, BMP7, GDF5
9
Show member pathways
9.0BMP2, BMP4, BMP7, GDF5
10
Show member pathways
9.0BMP2, BMP4, BMP7, GDF5
11
Show member pathways
9.0BMP2, BMP4, BMP7, GDF5
12
Show member pathways
8.9BMP2, BMP4, BMP7, BMPR1B
138.9BMP2, BMP4, BMP7, BMPR1B
148.7BMP2, BMP4, BMP7, GDF5, NOG
158.5BMP2, BMP4, BMPR1B, WNT2
16
Show member pathways
8.4BMP2, BMP4, BMP7, CSF1R, GDF5
17
Show member pathways
8.4BMP2, BMP4, BMP7, WNT2
18
Show member pathways
8.1BMP2, BMP4, BMP7, CSF1R, GDF5, ROR2
19
Show member pathways
8.1BMP2, BMP4, BMP7, CSF1R, GDF5, ROR2
20
Show member pathways
8.1BMP2, BMP4, BMP7, BMPR1B, CSF1R, GDF5
218.0BMP2, BMP4, CSF1R, FGF9, WNT2
22
Show member pathways
7.8BMP2, BMP4, BMP7, CSF1R, FGF9, GDF5
23
Show member pathways
7.8BMP2, BMP4, BMP7, CSF1R, FGF9, GDF5
24
Show member pathways
7.8BMP2, BMP4, BMP7, BMPR1B, NOG, WNT2
25
Show member pathways
7.8BMP2, BMP4, BMP7, BMPR1B, CSF1R, GDF5
267.8BMP2, BMP4, BMP7, BMPR1B, GDF5, WNT2
27
Show member pathways
7.8BMP2, BMP4, BMP7, BMPR1B, CSF1R, GDF5
28
Show member pathways
7.3BMP2, BMP4, BMP7, CSF1R, GDF5, ROR2

GO Terms for genes affiliated with Symphalangism, Proximal, 1a

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Cellular components related to Symphalangism, Proximal, 1a according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00056157.5BMP2, BMP4, BMP7, FGF9, GDF5, NOG
2extracellular regionGO:00055766.7BMP2, BMP4, BMP7, FGF9, GDF5, NOG

Biological processes related to Symphalangism, Proximal, 1a according to GeneCards Suite gene sharing:

(show all 50)
idNameGO IDScoreTop Affiliating Genes
1transmembrane receptor protein serine/threonine kinase signaling pathwayGO:000717810.5BMPR1B, GDF5
2negative regulation of glomerular mesangial cell proliferationGO:007212510.3BMP4, BMP7
3regulation of branching involved in prostate gland morphogenesisGO:006068710.3BMP4, BMP7
4mesonephros developmentGO:000182310.3BMP4, BMP7
5negative regulation of prostatic bud formationGO:006068610.3BMP4, BMP7
6regulation of pathway-restricted SMAD protein phosphorylationGO:006039310.3BMP4, BMP7
7mesenchymal cell proliferation involved in ureteric bud developmentGO:007213810.3BMP2, BMP4
8BMP signaling pathway involved in heart inductionGO:000313010.3BMP2, BMP4
9telencephalon regionalizationGO:002197810.3BMP2, BMP4
10negative regulation of mitotic nuclear divisionGO:004583910.3BMP4, BMP7
11positive regulation of ossificationGO:004577810.3BMP2, BMP4
12mesenchyme developmentGO:006048510.3BMP2, BMP7
13monocyte differentiationGO:003022410.1BMP4, CSF1R
14embryonic digit morphogenesisGO:004273310.0BMP4, NOG, ROR2
15embryonic skeletal joint morphogenesisGO:006027210.0BMP4, BMP7, NOG
16regulation of odontogenesis of dentin-containing toothGO:004248710.0BMP2, BMP4
17mesenchymal cell differentiationGO:004876210.0BMP2, BMP7, NOG
18eye developmentGO:000165410.0BMP7, BMPR1B, FGF9
19growthGO:00400079.9BMP2, BMP7, GDF5
20mesoderm formationGO:00017079.9BMP4, BMP7, NOG
21positive regulation of epithelial cell proliferationGO:00506799.9BMP4, FGF9, NOG
22embryonic skeletal system developmentGO:00487069.9BMP4, FGF9, NOG
23ureteric bud developmentGO:00016579.9BMP4, BMP7, NOG
24cardiac epithelial to mesenchymal transitionGO:00603179.9BMP2, WNT2
25epithelial to mesenchymal transitionGO:00018379.8BMP2, BMP7, NOG
26negative regulation of cell cycleGO:00457869.8BMP2, BMP4, BMP7
27positive regulation of cartilage developmentGO:00610369.8BMP2, BMP4, BMPR1B
28anatomical structure formation involved in morphogenesisGO:00486469.8BMP4, BMP7, NOG
29cellular response to growth factor stimulusGO:00713639.8BMP2, BMP4, BMPR1B
30odontogenesis of dentin-containing toothGO:00424759.7BMP2, BMP4, BMP7
31positive regulation of bone mineralizationGO:00305019.5BMP2, BMP4, BMP7, BMPR1B
32positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.5BMP2, BMP4, BMP7, GDF5
33embryonic limb morphogenesisGO:00303269.5BMP4, BMP7, FGF9, GDF5
34positive regulation of canonical Wnt signaling pathwayGO:00902639.5FGF9, ROR2, WNT2
35positive regulation of cell differentiationGO:00455979.4BMP2, BMP4, BMP7, BMPR1B
36positive regulation of osteoblast differentiationGO:00456699.4BMP2, BMP4, BMP7, BMPR1B
37lung developmentGO:00303249.4BMP4, FGF9, WNT2
38positive regulation of endothelial cell proliferationGO:00019389.3BMP2, BMP4, WNT2
39osteoblast differentiationGO:00016499.3BMP2, BMP4, FGF9, NOG
40SMAD protein signal transductionGO:00603959.3BMP2, BMP4, BMP7, GDF5, ROR2
41chondrocyte differentiationGO:00020629.2BMP2, BMP4, BMPR1B, FGF9, GDF5
42cell fate commitmentGO:00451659.2BMP2, BMP4, ROR2, WNT2
43cellular response to BMP stimulusGO:00717739.0BMP2, BMP4, BMP7, BMPR1B, NOG
44positive regulation of neuron differentiationGO:00456669.0BMP2, BMP4, BMP7, GDF5
45skeletal system developmentGO:00015018.9BMP2, BMP4, BMP7, BMPR1B, NOG
46cell-cell signalingGO:00072678.9BMP2, FGF9, GDF5, WNT2
47positive regulation of cell migrationGO:00303358.8BMP2, BMP4, CSF1R, ROR2
48BMP signaling pathwayGO:00305098.7BMP2, BMP4, BMP7, BMPR1B, NOG, ROR2
49negative regulation of cell proliferationGO:00082858.3BMP2, BMP4, BMP7, CSF1R, ROR2
50positive regulation of transcription from RNA polymerase II promoterGO:00459447.8BMP2, BMP4, BMP7, BMPR1B, NOG, WNT2

Molecular functions related to Symphalangism, Proximal, 1a according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1BMP receptor bindingGO:00707009.8BMP2, BMP4, BMP7
2frizzled bindingGO:00051099.7ROR2, WNT2
3co-receptor bindingGO:00397069.6BMP2, BMP4
4heparin bindingGO:00082019.5BMP4, BMP7, FGF9
5transforming growth factor beta receptor bindingGO:00051609.5BMP2, BMP4, BMP7, GDF5
6cytokine bindingGO:00199559.4CSF1R, NOG
7growth factor activityGO:00080838.6BMP2, BMP4, BMP7, FGF9, GDF5
8cytokine activityGO:00051258.2BMP2, BMP4, BMP7, GDF5, WNT2

Sources for Symphalangism, Proximal, 1a

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet