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 56
Adducted Thumbs Syndrome 56 52
Clasped Thumbs, Congenital 52

Characteristics:

OMIM:

56
Inheritance:
x-linked recessive


HPO:

31
thumbs, congenital clasped:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 56 314100
MedGen 41 C0431886
SNOMED-CT via HPO 68 88425004

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 nervous system and abnormality of the skeletal system

Wikipedia : 74 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 12)
# Related Disease Score Top Affiliating Genes
1 adducted thumbs syndrome 12.8
2 masa syndrome 11.7
3 mental retardation, skeletal dysplasia, and abducens palsy 11.4
4 cleft palate, isolated 10.1
5 palatopharyngeal incompetence 10.0
6 alkuraya-kucinskas syndrome 10.0
7 autosomal recessive disease 10.0
8 microcephaly 10.0
9 hydrocephalus 10.0
10 hypertrichosis 10.0
11 hypotonia 10.0
12 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:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of the nervous system 31 HP:0000707
2 abnormality of the skeletal system 31 HP:0000924

Symptoms via clinical synopsis from OMIM:

56
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:

40
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. 56
5677295 1968
2
FLEXION-ADDUCTION DEFORMITY OF THE THUMB--CONGENITAL CLASPED THUMB. 56
14245720 1964
3
Role of the cytoplasmic domain of the L1 cell adhesion molecule in brain development. 61
20127821 2010
4
Prenatal diagnosis in a family with X-linked hydrocephalus. 61
16088863 2005
5
Digitotalar dysmorphism with craniofacial and other new associated abnormalities. 61
11446408 2001
6
The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule. 61
8826452 1996
7
Molecular genetics of familial spastic paraplegia: a multitude of responsible genes. 61
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. 61
8636066 1996
9
New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome. 61
7762552 1995
10
[Flexional adduction contracture of the thumbs in distal arthrogryposis type I.]. 61
20483094 1992
11
Adducted thumb syndromes. 61
1175322 1975
12
The adducted thumbs syndrome. An autosomal recessive disease with arthrogryposis, dysmyelination, craniostenosis, and cleft palate. 61
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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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