MCID: STP011
MIFTS: 20

Stapes Ankylosis with Broad Thumbs and Toes

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

Aliases & Classifications for Stapes Ankylosis with Broad Thumbs and Toes

MalaCards integrated aliases for Stapes Ankylosis with Broad Thumbs and Toes:

Name: Stapes Ankylosis with Broad Thumbs and Toes 57 59
Stapes Ankylosis with Broad Thumb and Toes 75 37 29 13 6 40 73
Teunissen-Cremers Syndrome 57 59 75
Ankylosis of Stapes, Hyperopia, Broad Thumbs, Broad First Toes, and Syndactyly 57
Stapes Ankylosis Syndrome Without Symphalangism 57
Sabts 75

Characteristics:

Orphanet epidemiological data:

59
stapes ankylosis with broad thumbs and toes
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
allelic to proximal symphalangism , multiple synostoses syndrome , and tarsal-carpal coalition syndrome


HPO:

32
stapes ankylosis with broad thumbs and toes:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 184460
Orphanet 59 ORPHA140917
UMLS via Orphanet 74 C1866656
ICD10 via Orphanet 34 Q87.8
MedGen 42 C1866656
KEGG 37 H00868
UMLS 73 C1866656

Summaries for Stapes Ankylosis with Broad Thumbs and Toes

UniProtKB/Swiss-Prot : 75 Stapes ankylosis with broad thumb and toes: Congenital autosomal dominant disorder that includes hyperopia, a hemicylindrical nose, broad thumbs, great toes, and other minor skeletal anomalies but lacked carpal and tarsal fusion and symphalangism.

MalaCards based summary : Stapes Ankylosis with Broad Thumbs and Toes, also known as stapes ankylosis with broad thumb and toes, is related to nasodigitoacoustic syndrome and ankylosis. An important gene associated with Stapes Ankylosis with Broad Thumbs and Toes is NOG (Noggin), and among its related pathways/superpathways is TGF-beta signaling pathway. Related phenotypes are stapes ankylosis and conductive hearing impairment

Description from OMIM: 184460

Related Diseases for Stapes Ankylosis with Broad Thumbs and Toes

Diseases related to Stapes Ankylosis with Broad Thumbs and Toes via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 nasodigitoacoustic syndrome 11.5
2 ankylosis 10.3

Symptoms & Phenotypes for Stapes Ankylosis with Broad Thumbs and Toes

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
fused cervical vertebrae

Skeletal Feet:
syndactyly
broad halluces

Head And Neck Mouth:
hypoplastic alae nasi
hemicylindrical nose
prominent columella

Skeletal Hands:
syndactyly
short distal phalanges
broad thumbs
proximal 5th finger symphalangism

Head And Neck Eyes:
conductive hearing loss
hyperopia
congenital stapes ankylosis

Head And Neck Neck:
limited neck range of motion


Clinical features from OMIM:

184460

Human phenotypes related to Stapes Ankylosis with Broad Thumbs and Toes:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 stapes ankylosis 32 hallmark (90%) HP:0000381
2 conductive hearing impairment 32 hallmark (90%) HP:0000405
3 underdeveloped nasal alae 32 frequent (33%) HP:0000430
4 limited neck range of motion 32 very rare (1%) HP:0000466
5 hypermetropia 32 hallmark (90%) HP:0000540
6 toe syndactyly 32 frequent (33%) HP:0001770
7 fused cervical vertebrae 32 very rare (1%) HP:0002949
8 long nose 32 frequent (33%) HP:0003189
9 congenital stapes ankylosis 32 hallmark (90%) HP:0007943
10 proximal/middle symphalangism of 5th finger 32 HP:0009177
11 low hanging columella 32 frequent (33%) HP:0009765
12 short distal phalanx of finger 32 frequent (33%) HP:0009882
13 broad hallux 32 hallmark (90%) HP:0010055
14 broad thumb 32 hallmark (90%) HP:0011304

Drugs & Therapeutics for Stapes Ankylosis with Broad Thumbs and Toes

Search Clinical Trials , NIH Clinical Center for Stapes Ankylosis with Broad Thumbs and Toes

Genetic Tests for Stapes Ankylosis with Broad Thumbs and Toes

Genetic tests related to Stapes Ankylosis with Broad Thumbs and Toes:

# Genetic test Affiliating Genes
1 Stapes Ankylosis with Broad Thumb and Toes 29 NOG

Anatomical Context for Stapes Ankylosis with Broad Thumbs and Toes

Publications for Stapes Ankylosis with Broad Thumbs and Toes

Articles related to Stapes Ankylosis with Broad Thumbs and Toes:

# Title Authors Year
1
Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin. ( 12089654 )
2002

Variations for Stapes Ankylosis with Broad Thumbs and Toes

ClinVar genetic disease variations for Stapes Ankylosis with Broad Thumbs and Toes:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NOG NM_005450.4(NOG): c.103C> T (p.Pro35Ser) single nucleotide variant Pathogenic rs28937580 GRCh37 Chromosome 17, 54671687: 54671687
2 NOG NM_005450.4(NOG): c.103C> T (p.Pro35Ser) single nucleotide variant Pathogenic rs28937580 GRCh38 Chromosome 17, 56594326: 56594326
3 NOG NM_005450.4(NOG): c.328C> T (p.Gln110Ter) single nucleotide variant Pathogenic rs104894614 GRCh37 Chromosome 17, 54671912: 54671912
4 NOG NM_005450.4(NOG): c.328C> T (p.Gln110Ter) single nucleotide variant Pathogenic rs104894614 GRCh38 Chromosome 17, 56594551: 56594551
5 NOG NOG, 1-BP INS, 252C insertion Pathogenic

Expression for Stapes Ankylosis with Broad Thumbs and Toes

Search GEO for disease gene expression data for Stapes Ankylosis with Broad Thumbs and Toes.

Pathways for Stapes Ankylosis with Broad Thumbs and Toes

Pathways related to Stapes Ankylosis with Broad Thumbs and Toes according to KEGG:

37
# Name Kegg Source Accession
1 TGF-beta signaling pathway hsa04350

GO Terms for Stapes Ankylosis with Broad Thumbs and Toes

Sources for Stapes Ankylosis with Broad Thumbs and Toes

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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