MCID: THM025
MIFTS: 16

Thumbs, Congenital Clasped

Categories: Rare diseases

Aliases & Classifications for Thumbs, Congenital Clasped

MalaCards integrated aliases for Thumbs, Congenital Clasped:

Name: Thumbs, Congenital Clasped 57
Adducted Thumbs Syndrome 57 53
Clasped Thumbs, Congenital 53

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive


HPO:

32
thumbs, congenital clasped:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 57 314100
MedGen 42 C0431886

Summaries for Thumbs, Congenital Clasped

MalaCards based summary : Thumbs, Congenital Clasped, also known as adducted thumbs syndrome, is related to adducted thumbs syndrome and masa syndrome. Affiliated tissues include brain, and related phenotypes are abnormality of the skeletal system and abnormality of the nervous system

Wikipedia : 75 Infant's persistent thumb-clutched hand, flexion-adduction deformity of the thumb, pollex varus, thumb... more...

More information from OMIM: 314100

Related Diseases for Thumbs, Congenital Clasped

Diseases related to Thumbs, Congenital Clasped via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 adducted thumbs syndrome 12.8
2 masa syndrome 11.5
3 spastic paraplegia 1 11.5
4 mental retardation, skeletal dysplasia, and abducens palsy 11.4
5 cleft palate, isolated 10.1
6 palatopharyngeal incompetence 10.0
7 alkuraya-kucinskas syndrome 10.0
8 autosomal recessive disease 10.0
9 hydrocephalus 10.0
10 hypertrichosis 10.0
11 microcephaly 10.0
12 congenital hydrocephalus 10.0
13 hypotonia 10.0
14 congenital amyoplasia 10.0

Graphical network of the top 20 diseases related to Thumbs, Congenital Clasped:



Diseases related to Thumbs, Congenital Clasped

Symptoms & Phenotypes for Thumbs, Congenital Clasped

Human phenotypes related to Thumbs, Congenital Clasped:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of the skeletal system 32 HP:0000924
2 abnormality of the nervous system 32 HP:0000707

Symptoms via clinical synopsis from OMIM:

57
Limbs:
thumb adducted and flexed
thumb extensor defect

Neuro:
thumb extension failure during moro reflex

Clinical features from OMIM:

314100

Drugs & Therapeutics for Thumbs, Congenital Clasped

Search Clinical Trials , NIH Clinical Center for Thumbs, Congenital Clasped

Genetic Tests for Thumbs, Congenital Clasped

Anatomical Context for Thumbs, Congenital Clasped

MalaCards organs/tissues related to Thumbs, Congenital Clasped:

41
Brain

Publications for Thumbs, Congenital Clasped

Articles related to Thumbs, Congenital Clasped:

(show all 12)
# Title Authors PMID Year
1
Congenital clasped thumb (congenital flexion-adduction deformity of the thumb. A syndrome, not a specific entity. 8
5677295 1968
2
FLEXION-ADDUCTION DEFORMITY OF THE THUMB--CONGENITAL CLASPED THUMB. 8
14245720 1964
3
Role of the cytoplasmic domain of the L1 cell adhesion molecule in brain development. 38
20127821 2010
4
Prenatal diagnosis in a family with X-linked hydrocephalus. 38
16088863 2005
5
Digitotalar dysmorphism with craniofacial and other new associated abnormalities. 38
11446408 2001
6
The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule. 38
8826452 1996
7
Molecular genetics of familial spastic paraplegia: a multitude of responsible genes. 38
8782167 1996
8
Differential effects of two hydrocephalus/MASA syndrome-related mutations on the homophilic binding and neuritogenic activities of the cell adhesion molecule L1. 38
8636066 1996
9
New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome. 38
7762552 1995
10
[Flexional adduction contracture of the thumbs in distal arthrogryposis type I.]. 38
20483094 1992
11
Adducted thumb syndromes. 38
1175322 1975
12
The adducted thumbs syndrome. An autosomal recessive disease with arthrogryposis, dysmyelination, craniostenosis, and cleft palate. 38
5116596 1971

Variations for Thumbs, Congenital Clasped

Expression for Thumbs, Congenital Clasped

Search GEO for disease gene expression data for Thumbs, Congenital Clasped.

Pathways for Thumbs, Congenital Clasped

GO Terms for Thumbs, Congenital Clasped

Sources for Thumbs, Congenital Clasped

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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