MCID: TRP024
MIFTS: 19

Triphalangeal Thumbs with Brachyectrodactyly

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Triphalangeal Thumbs with Brachyectrodactyly

MalaCards integrated aliases for Triphalangeal Thumbs with Brachyectrodactyly:

Name: Triphalangeal Thumbs with Brachyectrodactyly 56
Triphalangeal Thumbs Brachyectrodactyly 52 71
Triphalangeal Thumb and Brachy-Ectrodactyly Syndrome 52
Triphalangeal Thumb and Brachyectrodactyly Syndrome 52
Triphalangeal Thumbs-Brachyectrodactyly Syndrome 58
Carnevale-Hernandez-Del Castillo Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
triphalangeal thumbs-brachyectrodactyly syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
triphalangeal thumbs with brachyectrodactyly:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 190680
MESH via Orphanet 44 C536564
ICD10 via Orphanet 33 Q74.8
UMLS via Orphanet 72 C1860804
Orphanet 58 ORPHA2947
MedGen 41 C1860804
UMLS 71 C1860804

Summaries for Triphalangeal Thumbs with Brachyectrodactyly

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2947 Definition Triphalangeal thumbs-brachyectrodactyly syndrome is characterised by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant . Visit the Orphanet disease page for more resources.

MalaCards based summary : Triphalangeal Thumbs with Brachyectrodactyly, also known as triphalangeal thumbs brachyectrodactyly, is related to chromosome 2q35 duplication syndrome and polydactyly. Affiliated tissues include bone, and related phenotypes are brachydactyly and split hand

More information from OMIM: 190680

Related Diseases for Triphalangeal Thumbs with Brachyectrodactyly

Diseases related to Triphalangeal Thumbs with Brachyectrodactyly via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chromosome 2q35 duplication syndrome 10.5
2 polydactyly 10.5
3 split-hand/foot malformation 1 10.5
4 isolated split hand-split foot malformation 10.5
5 nail disorder, nonsyndromic congenital, 9 10.4
6 brachydactyly 10.4

Graphical network of the top 20 diseases related to Triphalangeal Thumbs with Brachyectrodactyly:



Diseases related to Triphalangeal Thumbs with Brachyectrodactyly

Symptoms & Phenotypes for Triphalangeal Thumbs with Brachyectrodactyly

Human phenotypes related to Triphalangeal Thumbs with Brachyectrodactyly:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 brachydactyly 31 HP:0001156
2 split hand 31 HP:0001171
3 triphalangeal thumb 31 HP:0001199
4 short 2nd finger 31 HP:0009536
5 split foot 31 HP:0001839
6 short 3rd toe 31 HP:0005643

Symptoms via clinical synopsis from OMIM:

56
Limbs:
triphalangeal thumbs
ectrodactyly of feet
brachydactyly of index fingers and third toes
ectrodactyly of hands

Clinical features from OMIM:

190680

Drugs & Therapeutics for Triphalangeal Thumbs with Brachyectrodactyly

Search Clinical Trials , NIH Clinical Center for Triphalangeal Thumbs with Brachyectrodactyly

Genetic Tests for Triphalangeal Thumbs with Brachyectrodactyly

Anatomical Context for Triphalangeal Thumbs with Brachyectrodactyly

MalaCards organs/tissues related to Triphalangeal Thumbs with Brachyectrodactyly:

40
Bone

Publications for Triphalangeal Thumbs with Brachyectrodactyly

Articles related to Triphalangeal Thumbs with Brachyectrodactyly:

# Title Authors PMID Year
1
Triphalangeal thumb and brachyectrodactyly syndrome: an uncommon entity with evidence of geographic distribution. 56
8946115 1996
2
Triphalangeal thumb and brachy-ectrodactyly syndrome. Confirmation of autosomal dominant inheritance. 56
3568429 1987
3
A new syndrome of triphalangeal thumbs and brachy-ectrodactyly. 56
7438506 1980
4
Triphalangeal thumbs with brachyectrodactyly: a sporadic case. 61
18924168 2008

Variations for Triphalangeal Thumbs with Brachyectrodactyly

Expression for Triphalangeal Thumbs with Brachyectrodactyly

Search GEO for disease gene expression data for Triphalangeal Thumbs with Brachyectrodactyly.

Pathways for Triphalangeal Thumbs with Brachyectrodactyly

GO Terms for Triphalangeal Thumbs with Brachyectrodactyly

Sources for Triphalangeal Thumbs with Brachyectrodactyly

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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