MCID: TRP024
MIFTS: 16

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 58
Triphalangeal Thumbs Brachyectrodactyly 54 74
Triphalangeal Thumb and Brachy-Ectrodactyly Syndrome 54
Triphalangeal Thumb and Brachyectrodactyly Syndrome 54
Triphalangeal Thumbs-Brachyectrodactyly Syndrome 60
Carnevale-Hernández-Del Castillo Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
triphalangeal thumbs-brachyectrodactyly syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
triphalangeal thumbs with brachyectrodactyly:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 190680
MESH via Orphanet 46 C536564
ICD10 via Orphanet 35 Q74.8
UMLS via Orphanet 75 C1860804
Orphanet 60 ORPHA2947
MedGen 43 C1860804
UMLS 74 C1860804

Summaries for Triphalangeal Thumbs with Brachyectrodactyly

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2947Disease definitionTriphalangeal 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 split-hand/foot malformation 1 and isolated split hand-split foot malformation. Related phenotypes are brachydactyly and split hand

Description 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 split-hand/foot malformation 1 10.5
2 isolated split hand-split foot malformation 10.5

Symptoms & Phenotypes for Triphalangeal Thumbs with Brachyectrodactyly

Human phenotypes related to Triphalangeal Thumbs with Brachyectrodactyly:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 brachydactyly 33 HP:0001156
2 split hand 33 HP:0001171
3 triphalangeal thumb 33 HP:0001199
4 short 2nd finger 33 HP:0009536
5 split foot 33 HP:0001839
6 short 3rd toe 33 HP:0005643

Symptoms via clinical synopsis from OMIM:

58
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

Publications for Triphalangeal Thumbs with Brachyectrodactyly

Articles related to Triphalangeal Thumbs with Brachyectrodactyly:

# Title Authors Year
1
Triphalangeal thumb and brachy-ectrodactyly syndrome. Confirmation of autosomal dominant inheritance. ( 3568429 )
1987

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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