SYM1A
MCID: SYM022
MIFTS: 29

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 29 6 70
Hereditary Absence of the Proximal Interphalangeal Joints 57 72
Cushing Symphalangism 57 72
Sym1a 57 72
Sym1 57 72
Symphalangism, Proximal, Type 1a 39
Symphalangism, Proximal 1a 72
Symphalangism, Proximal 70

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
symphalangism, proximal, 1a:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 185800
OMIM Phenotypic Series 57 PS185800
MeSH 44 D007592
UMLS 70 C1861385 C3714899

Summaries for Symphalangism, Proximal, 1a

UniProtKB/Swiss-Prot : 72 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 symphalangism, proximal, 1b and proximal symphalangism. An important gene associated with Symphalangism, Proximal, 1a is NOG (Noggin). Affiliated tissues include bone, eye and kidney, and related phenotypes are proximal symphalangism of hands 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) (Updated 20-May-2021)

Related Diseases for Symphalangism, Proximal, 1a

Diseases in the Proximal Symphalangism family:

Symphalangism, Proximal, 1a Symphalangism, Proximal, 1b
Proximal Symphalangism 1 Proximal Symphalangism 2

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

# Related Disease Score Top Affiliating Genes
1 symphalangism, proximal, 1b 11.4
2 proximal symphalangism 11.3
3 tarsal-carpal coalition syndrome 11.1
4 branchiootic syndrome 1 10.1
5 mitochondrial dna depletion syndrome 10.1
6 ankylosis 9.9
7 kidney disease 9.9

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



Diseases related to Symphalangism, Proximal, 1a

Symptoms & Phenotypes for Symphalangism, Proximal, 1a

Human phenotypes related to Symphalangism, Proximal, 1a:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 proximal symphalangism of hands 31 hallmark (90%) HP:0006152
2 conductive hearing impairment 31 frequent (33%) HP:0000405
3 tarsal synostosis 31 frequent (33%) HP:0008368
4 stapes ankylosis 31 frequent (33%) HP:0000381
5 carpal synostosis 31 frequent (33%) HP:0009702
6 aplasia/hypoplasia of the middle phalanges of the hand 31 occasional (7.5%) HP:0009843
7 distal symphalangism of hands 31 occasional (7.5%) HP:0001204
8 aplasia/hypoplasia of the middle phalanges of the toes 31 occasional (7.5%) HP:0010194
9 metacarpophalangeal synostosis 31 very rare (1%) HP:0005880
10 short 5th metacarpal 31 HP:0010047

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

Drugs & Therapeutics for Symphalangism, Proximal, 1a

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

Genetic Tests for Symphalangism, Proximal, 1a

Genetic tests related to Symphalangism, Proximal, 1a:

# Genetic test Affiliating Genes
1 Symphalangism, Proximal, 1a 29 NOG

Anatomical Context for Symphalangism, Proximal, 1a

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

40
Bone, Eye, Kidney

Publications for Symphalangism, Proximal, 1a

Articles related to Symphalangism, Proximal, 1a:

(show all 20)
# Title Authors PMID Year
1
Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome. 6 57
11846737 2001
2
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. 57 6
10080184 1999
3
Localization of the gene (SYM1) for proximal symphalangism to human chromosome 17q21-q22. 57 6
7557985 1995
4
Hereditary Anchylosis of the Proximal Phalan-Geal Joints (Symphalangism). 57 6
17245852 1916
5
P35S mutation in the NOG gene associated with Teunissen-Cremers syndrome and features of multiple NOG joint-fusion syndromes. 6
18440889 2008
6
A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. 6
17668388 2007
7
A tribute to our teacher, Dr. Judith Hall: a child with the trait of the Earl of Shrewsbury. 57
16353259 2006
8
Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism. 6
11857750 2002
9
Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism. 6
11545688 2001
10
Bmp4 mediates apoptotic cell death in the developing chick eye. 6
11160400 2001
11
BMP4 is essential for lens induction in the mouse embryo. 6
9851982 1998
12
Proximal symphalangia and stapes ankylosis. 57
4051868 1985
13
Treatment of congenital deformities of the hand and forearm (first of two parts). 57
759895 1979
14
Symphalangism with metacarpophalangeal fusions and elbow abnormalities. 57
967566 1976
15
Stapes fixation a proximal symphalangism. 57
5440467 1970
16
The Talbot fingers: a study in symphalangism. 57
6017508 1967
17
Proximal symphalangism of fingers associated with fusion of os naviculare and talus and occurrence of two accessory bones in the feet (os paranaviculare and os tibiale externum) in an European--Indonesian--Chinese family. 57
5633139 1967
18
Symphalangism, strabismus and hearing loss in mother and daughter. 57
13781040 1960
19
Phalangeal Anarthrosis (Synostosis, Ankylosis) transmitted through Fourteen Generations. 57
19979838 1917
20
Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling. 61
31694554 2019

Variations for Symphalangism, Proximal, 1a

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NOG NM_005450.5(NOG):c.664T>G (p.Tyr222Asp) SNV Pathogenic 6692 rs121908948 GRCh37: 17:54672248-54672248
GRCh38: 17:56594887-56594887
2 NOG NM_005450.5(NOG):c.668C>T (p.Pro223Leu) SNV Pathogenic 6694 rs104894608 GRCh37: 17:54672252-54672252
GRCh38: 17:56594891-56594891
3 NOG NM_005450.5(NOG):c.565G>T (p.Gly189Cys) SNV Pathogenic 6695 rs104894609 GRCh37: 17:54672149-54672149
GRCh38: 17:56594788-56594788
4 NOG NM_005450.5(NOG):c.551G>A (p.Cys184Tyr) SNV Pathogenic 6699 rs104894612 GRCh37: 17:54672135-54672135
GRCh38: 17:56594774-56594774
5 NOG NM_005450.5(NOG):c.386T>A (p.Leu129Ter) SNV Pathogenic 6700 rs104894613 GRCh37: 17:54671970-54671970
GRCh38: 17:56594609-56594609
6 NOG NM_005450.5(NOG):c.665A>G (p.Tyr222Cys) SNV Pathogenic 6691 rs104894602 GRCh37: 17:54672249-54672249
GRCh38: 17:56594888-56594888
7 NOG NM_005450.5(NOG):c.103C>T (p.Pro35Ser) SNV Pathogenic 6703 rs28937580 GRCh37: 17:54671687-54671687
GRCh38: 17:56594326-56594326
8 NOG NM_005450.5(NOG):c.104C>G (p.Pro35Arg) SNV Pathogenic 6697 rs104894611 GRCh37: 17:54671688-54671688
GRCh38: 17:56594327-56594327
9 NOG NM_005450.5(NOG):c.611G>A (p.Arg204Gln) SNV Likely pathogenic 375295 rs104894610 GRCh37: 17:54672195-54672195
GRCh38: 17:56594834-56594834
10 NOG NM_005450.5(NOG):c.599T>C (p.Leu200Pro) SNV Likely pathogenic 599097 rs1567745111 GRCh37: 17:54672183-54672183
GRCh38: 17:56594822-56594822

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

72
# 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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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