Aliases & Classifications for Thumb Deformity

MalaCards integrated aliases for Thumb Deformity:

Name: Thumb Deformity 56 52 6
Thumb Absent or Hypoplastic 52
Thumb Hypoplastic 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
thumb deformity:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 188100
MedGen 41 C0575897
SNOMED-CT via HPO 68 263681008 49601007

Summaries for Thumb Deformity

MalaCards based summary : Thumb Deformity, also known as thumb absent or hypoplastic, is related to thumb deformity and alopecia and thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness. An important gene associated with Thumb Deformity is CREBBP (CREB Binding Protein), and among its related pathways/superpathways are Cell cycle and DNA Damage/Telomere Stress Induced Senescence. Related phenotypes are abnormality of the cardiovascular system and aplasia/hypoplasia of the thumb

More information from OMIM: 188100

Related Diseases for Thumb Deformity

Graphical network of the top 20 diseases related to Thumb Deformity:



Diseases related to Thumb Deformity

Symptoms & Phenotypes for Thumb Deformity

Human phenotypes related to Thumb Deformity:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of the cardiovascular system 31 HP:0001626
2 aplasia/hypoplasia of the thumb 31 HP:0009601

Symptoms via clinical synopsis from OMIM:

56
Limbs:
absent/hypoplastic thumb

Cardiac:
no cardiac anomaly

Clinical features from OMIM:

188100

GenomeRNAi Phenotypes related to Thumb Deformity according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.36 TBX5
2 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.36 EP300
3 Increased shRNA abundance (Z-score > 2) GR00366-A-182 9.36 EP300
4 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.36 EP300
5 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.36 EP300
6 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.36 EP300
7 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.36 EP300 TBX5
8 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.36 TBX5
9 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.36 EP300
10 Increased shRNA abundance (Z-score > 2) GR00366-A-98 9.36 TBX5

MGI Mouse Phenotypes related to Thumb Deformity:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.8 CREBBP EP300 TBX5

Drugs & Therapeutics for Thumb Deformity

Search Clinical Trials , NIH Clinical Center for Thumb Deformity

Genetic Tests for Thumb Deformity

Anatomical Context for Thumb Deformity

Publications for Thumb Deformity

Articles related to Thumb Deformity:

(show all 41)
# Title Authors PMID Year
1
Isolated congenital familial thumb deformities. Report of a family. 56
5929887 1966
2
Reconstruction of the first web space with an intersegmental flap in congenital triphalangeal thumb deformity: a case report. 61
32539580 2020
3
A rare case of neglected clasped thumb of 5-year-old girl treated with simple z-plasty, two tendons transplantation, and followed up for 17 years. 61
32104564 2020
4
A modified Terrono classification for Type 1 thumb deformity in rheumatoid arthritis: a cross-sectional analysis. 61
31722639 2020
5
[THE CONGENITAL TRIGGER THUMB - CLINICAL PRESENTATION AND TREATMENT]. 61
31823534 2019
6
Fetal micromelia, thoracic dysplasia and polydactyly revisited: A case-based antenatal sonographic approach. 61
32549900 2019
7
A Case of Thumb Polydactyly which Ulnar Thumb Has No Active Motion in Ring Chromosome 4. 61
30428788 2018
8
Mermaid Syndrome: A Case Report of a Rare Congenital Anomaly in Full-Term Neonate with Thumb Deformity. 61
30443435 2018
9
Sports Injury-Related Fingers and Thumb Deformity Due to Tendon or Ligament Rupture. 61
29692376 2018
10
Adductor Tenotomy Combined with Palmar Capsulodesis for Spastic Thumb-in-Palm Deformity in Cerebral Palsy: Description of a Surgical Technique and Clinical Results. 61
28774242 2017
11
Holt-Oram Syndrome: A Rare Variant. 61
28761211 2017
12
Triphalangeal Thumb Reduction Osteotomy Through a Versatile Spiral Approach. 61
26926846 2016
13
Surgical reconstruction of an unstable rheumatoid thumb deformity. A case report. 61
26184650 2015
14
Congenital Clasped Thumb That Is Forgetten a Syndrome in Clinical Practice: A Case Report. 61
26402835 2015
15
Correction of a Hyperextension Deformity at the Metacarpophalangeal Joint by Arthroplasty for Osteoarthritis of the Thumb Carpometacarpal Joint Followed by External Fixator: A Case Series: Modified Ilizarov Method for Correction of a Collapsed Thumb Deformity Due to Carpometacarpal Osteoarthritis. 61
26078506 2015
16
Irreducible dislocation of the thumb interphalangeal joint due to displaced flexor pollicis longus tendon: case report and new reduction technique. 61
24902518 2014
17
Rheumatoid arthritis of the hand: a five-year longitudinal analysis of clinical and radiographic findings. 61
24261761 2014
18
Abductor pollicis longus tendon division with swan neck thumb deformity. 61
22825877 2012
19
The safety of pediatric acupuncture: a systematic review. 61
22106073 2011
20
Treatment of common congenital hand conditions. 61
20811188 2010
21
Reconstruction of the thumb in Apert syndrome. 61
20526163 2010
22
Surgical management of thumb deformity in children with hemiplegic-type cerebral palsy. 61
19568025 2009
23
The surgical management of thumb deformity in cerebral palsy. 61
18332025 2008
24
Radiologic findings of the flexor pollicis longus hypoplasia. 61
17028901 2007
25
Ulnar intrinsic anatomy and dysfunction. 61
15891978 2005
26
Interobserver and intraobserver reliability of therapist-assisted videotaped evaluations of upper-limb hemiplegia. 61
15043910 2004
27
Thumb deformity in the spastic hand: classification and surgical techniques. 61
16518251 2003
28
Surgery for cerebral palsy part 3: classification and operative procedures for thumb deformity. 61
11560430 2001
29
Surgical treatment of the rheumatoid thumb. 61
11478050 2001
30
VACTERL manifestations in two generations of a family. 61
9916841 1999
31
New recessive syndrome characterized by increased chromosomal breakage and several findings which overlap with Fanconi anemia. 61
9637428 1998
32
When does subluxation of the first carpometacarpal joint cause swan-neck deformity of the thumb in rheumatoid arthritis: a 20-year follow-up study. 61
9641511 1998
33
Hydrocephalus ex vacuo and clasp thumb deformity due to congenital cytomegalovirus infection. 61
7833087 1994
34
The windblown hand: correction of the complex clasped thumb deformity. 61
1572919 1992
35
Boutonniere rheumatoid thumb deformity. 61
2269799 1990
36
Surgical treatment of the boutonniere rheumatoid thumb deformity. 61
2661579 1989
37
[Hand deformities in Freeman-Sheldon syndrome and their surgical treatment]. 61
6649810 1983
38
Compression arthrodesis of the thumb. 61
6833733 1983
39
Surgical correction of thumb deformity in arthrogryposis multiplex congenita. 61
7203183 1981
40
Aqueductal stenosis in X-linked hydrocephalus: a secondary phenomenon? 61
574474 1979
41
Congenital clasped thumb deformity. Case report. 61
5712486 1968

Variations for Thumb Deformity

ClinVar genetic disease variations for Thumb Deformity:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CREBBP NM_004380.3(CREBBP):c.6185_6195del (p.Ile2062fs)deletion Likely pathogenic 523472 rs1555471098 16:3778853-3778863 16:3728852-3728862
2 TBX5 NM_000192.3(TBX5):c.253C>A (p.Pro85Thr)SNV Likely pathogenic 626359 12:114837427-114837427 12:114399622-114399622
3 CREBBP NM_004380.3(CREBBP):c.3698G>A (p.Arg1233Lys)SNV Likely pathogenic 374025 rs1057518844 16:3807289-3807289 16:3757288-3757288
4 EP300 NM_001429.4(EP300):c.1619A>G (p.Gln540Arg)SNV Likely benign 374013 rs1057518835 22:41531907-41531907 22:41135903-41135903

Expression for Thumb Deformity

Search GEO for disease gene expression data for Thumb Deformity.

Pathways for Thumb Deformity

Pathways related to Thumb Deformity according to GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Super pathways Score Top Affiliating Genes
1 12.09 EP300 CREBBP
2
Show member pathways
12.08 EP300 CREBBP
3 12.07 EP300 CREBBP
4 12.06 EP300 CREBBP
5
Show member pathways
12.05 EP300 CREBBP
6 12.03 EP300 CREBBP
7
Show member pathways
11.99 EP300 CREBBP
8 11.97 EP300 CREBBP
9
Show member pathways
11.97 EP300 CREBBP
10
Show member pathways
11.95 EP300 CREBBP
11
Show member pathways
11.94 EP300 CREBBP
12
Show member pathways
11.94 EP300 CREBBP
13 11.91 EP300 CREBBP
14
Show member pathways
11.91 EP300 CREBBP
15 11.9 EP300 CREBBP
16
Show member pathways
11.83 EP300 CREBBP
17 11.82 EP300 CREBBP
18 11.81 EP300 CREBBP
19
Show member pathways
11.79 EP300 CREBBP
20 11.77 EP300 CREBBP
21
Show member pathways
11.72 EP300 CREBBP
22 11.72 EP300 CREBBP
23 11.7 EP300 CREBBP
24 11.65 EP300 CREBBP
25
Show member pathways
11.64 EP300 CREBBP
26 11.63 EP300 CREBBP
27 11.62 EP300 CREBBP
28
Show member pathways
11.58 EP300 CREBBP
29 11.57 EP300 CREBBP
30 11.56 EP300 CREBBP
31 11.54 EP300 CREBBP
32 11.53 EP300 CREBBP
33 11.51 EP300 CREBBP
34 11.49 EP300 CREBBP
35
Show member pathways
11.49 EP300 CREBBP
36 11.48 EP300 CREBBP
37
Show member pathways
11.47 EP300 CREBBP
38 11.45 EP300 CREBBP
39 11.44 EP300 CREBBP
40 11.44 EP300 CREBBP
41 11.42 EP300 CREBBP
42 11.38 EP300 CREBBP
43 11.36 EP300 CREBBP
44 11.34 EP300 CREBBP
45
Show member pathways
11.32 EP300 CREBBP
46 11.31 EP300 CREBBP
47 11.27 EP300 CREBBP
48
Show member pathways
11.27 EP300 CREBBP
49 11.25 EP300 CREBBP
50 11.22 EP300 CREBBP

GO Terms for Thumb Deformity

Cellular components related to Thumb Deformity according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 host cell nucleus GO:0042025 9.16 EP300 CREBBP
2 protein-DNA complex GO:0032993 8.96 TBX5 EP300
3 histone acetyltransferase complex GO:0000123 8.62 EP300 CREBBP

Biological processes related to Thumb Deformity according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.78 TBX5 EP300 CREBBP
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.75 TBX5 EP300 CREBBP
3 negative regulation of transcription by RNA polymerase II GO:0000122 9.71 TBX5 EP300 CREBBP
4 positive regulation of transcription, DNA-templated GO:0045893 9.67 TBX5 EP300 CREBBP
5 transcription initiation from RNA polymerase II promoter GO:0006367 9.6 TBX5 CREBBP
6 response to hypoxia GO:0001666 9.59 EP300 CREBBP
7 rhythmic process GO:0048511 9.58 EP300 CREBBP
8 Notch signaling pathway GO:0007219 9.57 EP300 CREBBP
9 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.56 EP300 CREBBP
10 lung development GO:0030324 9.55 TBX5 EP300
11 regulation of cellular response to heat GO:1900034 9.52 EP300 CREBBP
12 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.51 EP300 CREBBP
13 positive regulation of type I interferon production GO:0032481 9.48 EP300 CREBBP
14 histone acetylation GO:0016573 9.46 EP300 CREBBP
15 cellular response to UV GO:0034644 9.43 EP300 CREBBP
16 positive regulation of Notch signaling pathway GO:0045747 9.4 EP300 CREBBP
17 protein destabilization GO:0031648 9.37 EP300 CREBBP
18 positive regulation of transforming growth factor beta receptor signaling pathway GO:0030511 9.32 EP300 CREBBP
19 beta-catenin-TCF complex assembly GO:1904837 9.26 EP300 CREBBP
20 positive regulation of transcription of Notch receptor target GO:0007221 9.16 EP300 CREBBP
21 protein acetylation GO:0006473 8.96 EP300 CREBBP
22 N-terminal peptidyl-lysine acetylation GO:0018076 8.62 EP300 CREBBP

Molecular functions related to Thumb Deformity according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring acyl groups GO:0016746 9.48 EP300 CREBBP
2 transcription coregulator activity GO:0003712 9.46 EP300 CREBBP
3 p53 binding GO:0002039 9.43 EP300 CREBBP
4 transcription factor binding GO:0008134 9.43 TBX5 EP300 CREBBP
5 damaged DNA binding GO:0003684 9.4 EP300 CREBBP
6 RNA polymerase II transcription factor binding GO:0001085 9.37 EP300 CREBBP
7 histone acetyltransferase activity GO:0004402 9.32 EP300 CREBBP
8 acetyltransferase activity GO:0016407 9.16 EP300 CREBBP
9 peptide-lysine-N-acetyltransferase activity GO:0061733 8.96 EP300 CREBBP
10 RNA polymerase II activating transcription factor binding GO:0001102 8.8 TBX5 EP300 CREBBP

Sources for Thumb Deformity

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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