MCID: SYM022
MIFTS: 22

Symphalangism, Proximal, 1a

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal 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 symphalangism, proximal, 1b. An important gene associated with Symphalangism, Proximal, 1a is NOG (Noggin). Affiliated tissues include bone, and related phenotypes are stapes ankylosis 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 11.2
2 symphalangism, proximal, 1b 11.2
3 tarsal-carpal coalition syndrome 11.1

Symptoms & Phenotypes for Symphalangism, Proximal, 1a

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
conductive hearing loss
stapes ankylosis

Skeletal Feet:
tarsal bone fusion

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

Neurologic Central Nervous System:
normal intelligence


Clinical features from OMIM:

185800

Human phenotypes related to Symphalangism, Proximal, 1a:

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

Drugs & Therapeutics for Symphalangism, Proximal, 1a

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Skeletal Disorders and Short Stature Completed NCT00001754

Search 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

GO Terms for Symphalangism, Proximal, 1a

Sources for Symphalangism, Proximal, 1a

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62 PubMed
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69 SNOMED-CT via HPO
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71 TGDB
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74 UMLS via Orphanet
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