SYM1A
MCID: SYM022
MIFTS: 28

Symphalangism, Proximal, 1a (SYM1A)

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

Aliases & Classifications for Symphalangism, Proximal, 1a

MalaCards integrated aliases for Symphalangism, Proximal, 1a:

Name: Symphalangism, Proximal, 1a 57 73
Hereditary Absence of the Proximal Interphalangeal Joints 57 75
Cushing Symphalangism 57 75
Sym1a 57 75
Sym1 57 75
Symphalangism, Proximal 1a 75
Symphalangism, Proximal 73

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
allelic to multiple synostoses syndrome 1 , tarsal-carpal coalition syndrome , and stapes ankylosis syndrome without symphalangism


HPO:

32
symphalangism, proximal, 1a:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 185800
MeSH 44 D007592

Summaries for Symphalangism, Proximal, 1a

UniProtKB/Swiss-Prot : 75 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 hereditary absence of the proximal interphalangeal joints, is related to proximal symphalangism and tarsal-carpal coalition syndrome. An important gene associated with Symphalangism, Proximal, 1a is NOG (Noggin), and among its related pathways/superpathways is Cardiac Progenitor Differentiation. Affiliated tissues include bone, and related phenotypes are short 5th metacarpal and conductive hearing impairment

OMIM : 57 Proximal symphalangism-1A (SYM1A) is an autosomal dominant disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness (Strasburger et al., 1965). (185800)

Related Diseases for Symphalangism, Proximal, 1a

Diseases in the Proximal Symphalangism family:

Symphalangism, Proximal, 1a Symphalangism, Proximal, 1b

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

# Related Disease Score Top Affiliating Genes
1 proximal symphalangism 31.8 NOG ROR2
2 tarsal-carpal coalition syndrome 31.7 NOG ROR2
3 symphalangism, proximal, 1b 11.3
4 brachydactyly, type b2 9.8 NOG ROR2
5 brachydactyly 9.8 NOG ROR2
6 brachydactyly, type c 9.8 NOG ROR2
7 brachydactyly, type b1 9.8 NOG ROR2
8 brachydactyly, type a2 9.7 NOG ROR2

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



Diseases related to Symphalangism, Proximal, 1a

Symptoms & Phenotypes for Symphalangism, Proximal, 1a

Symptoms via clinical synopsis from OMIM:

57
Skeletal Hands:
short 5th metacarpal
carpal bone fusion
proximal interphalangeal (pip) joint synostoses
distal interphalangeal (dip) joint synostoses (occasional)

Neurologic Central Nervous System:
normal intelligence

Head And Neck Ears:
stapes ankylosis
conductive hearing loss

Skeletal Feet:
tarsal bone fusion


Clinical features from OMIM:

185800

Human phenotypes related to Symphalangism, Proximal, 1a:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 short 5th metacarpal 32 HP:0010047
2 conductive hearing impairment 32 frequent (33%) HP:0000405
3 tarsal synostosis 32 frequent (33%) HP:0008368
4 aplasia/hypoplasia of the middle phalanges of the hand 32 occasional (7.5%) HP:0009843
5 carpal synostosis 32 frequent (33%) HP:0009702
6 metacarpophalangeal synostosis 32 very rare (1%) HP:0005880
7 stapes ankylosis 32 frequent (33%) HP:0000381
8 distal symphalangism of hands 32 occasional (7.5%) HP:0001204
9 proximal symphalangism of hands 32 hallmark (90%) HP:0006152
10 aplasia/hypoplasia of the middle phalanges of the toes 32 occasional (7.5%) HP:0010194

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.62 NOG ROR2

Drugs & Therapeutics for Symphalangism, Proximal, 1a

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

Genetic Tests for Symphalangism, Proximal, 1a

Anatomical Context for Symphalangism, Proximal, 1a

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

41
Bone

Publications for Symphalangism, Proximal, 1a

Variations for Symphalangism, Proximal, 1a

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

75
# Symbol AA change Variation ID SNP ID
1 NOG p.Pro35Arg VAR_011361 rs104894611
2 NOG p.Gly189Cys VAR_011362 rs104894609
3 NOG p.Ile220Asn VAR_011364
4 NOG p.Tyr222Cys VAR_011365 rs104894602
5 NOG p.Tyr222Asp VAR_011366 rs121908948
6 NOG p.Pro223Leu VAR_011367 rs104894608
7 NOG p.Pro35Ser VAR_018324 rs28937580
8 NOG p.Cys184Tyr VAR_018325 rs104894612
9 NOG p.Trp205Cys VAR_037605 rs104894615

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

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 NOG NM_005450.4(NOG): c.665A> G (p.Tyr222Cys) single nucleotide variant Pathogenic rs104894602 GRCh37 Chromosome 17, 54672249: 54672249
2 NOG NM_005450.4(NOG): c.665A> G (p.Tyr222Cys) single nucleotide variant Pathogenic rs104894602 GRCh38 Chromosome 17, 56594888: 56594888
3 NOG NM_005450.4(NOG): c.664T> G (p.Tyr222Asp) single nucleotide variant Pathogenic rs121908948 GRCh37 Chromosome 17, 54672248: 54672248
4 NOG NM_005450.4(NOG): c.664T> G (p.Tyr222Asp) single nucleotide variant Pathogenic rs121908948 GRCh38 Chromosome 17, 56594887: 56594887
5 NOG NM_005450.4(NOG): c.668C> T (p.Pro223Leu) single nucleotide variant Pathogenic rs104894608 GRCh37 Chromosome 17, 54672252: 54672252
6 NOG NM_005450.4(NOG): c.668C> T (p.Pro223Leu) single nucleotide variant Pathogenic rs104894608 GRCh38 Chromosome 17, 56594891: 56594891
7 NOG NM_005450.4(NOG): c.565G> T (p.Gly189Cys) single nucleotide variant Pathogenic rs104894609 GRCh37 Chromosome 17, 54672149: 54672149
8 NOG NM_005450.4(NOG): c.565G> T (p.Gly189Cys) single nucleotide variant Pathogenic rs104894609 GRCh38 Chromosome 17, 56594788: 56594788
9 NOG NM_005450.4(NOG): c.104C> G (p.Pro35Arg) single nucleotide variant Pathogenic rs104894611 GRCh37 Chromosome 17, 54671688: 54671688
10 NOG NM_005450.4(NOG): c.104C> G (p.Pro35Arg) single nucleotide variant Pathogenic rs104894611 GRCh38 Chromosome 17, 56594327: 56594327
11 NOG NM_005450.4(NOG): c.551G> A (p.Cys184Tyr) single nucleotide variant Pathogenic rs104894612 GRCh37 Chromosome 17, 54672135: 54672135
12 NOG NM_005450.4(NOG): c.551G> A (p.Cys184Tyr) single nucleotide variant Pathogenic rs104894612 GRCh38 Chromosome 17, 56594774: 56594774
13 NOG NM_005450.4(NOG): c.386T> A (p.Leu129Ter) single nucleotide variant Pathogenic rs104894613 GRCh37 Chromosome 17, 54671970: 54671970
14 NOG NM_005450.4(NOG): c.386T> A (p.Leu129Ter) single nucleotide variant Pathogenic rs104894613 GRCh38 Chromosome 17, 56594609: 56594609
15 NOG NM_005450.4(NOG): c.103C> T (p.Pro35Ser) single nucleotide variant Pathogenic rs28937580 GRCh37 Chromosome 17, 54671687: 54671687
16 NOG NM_005450.4(NOG): c.103C> T (p.Pro35Ser) single nucleotide variant Pathogenic rs28937580 GRCh38 Chromosome 17, 56594326: 56594326

Expression for Symphalangism, Proximal, 1a

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

Pathways for Symphalangism, Proximal, 1a

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

# Super pathways Score Top Affiliating Genes
1 10.35 NOG ROR2

GO Terms for Symphalangism, Proximal, 1a

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

# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.26 NOG ROR2
2 negative regulation of canonical Wnt signaling pathway GO:0090090 9.16 NOG ROR2
3 BMP signaling pathway GO:0030509 8.96 NOG ROR2
4 embryonic digit morphogenesis GO:0042733 8.62 NOG ROR2

Sources for Symphalangism, Proximal, 1a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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