MCID: MTC100
MIFTS: 18

Metacarpal 4-5 Fusion

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Metacarpal 4-5 Fusion

MalaCards integrated aliases for Metacarpal 4-5 Fusion:

Name: Metacarpal 4-5 Fusion 57 75 37 6 73
Mf4 57 75
Fusion of Metacarpals 4 and 5 59
Metacarpals 4 and 5 Fusion 53
Syndactyly Type 8 59

Characteristics:

Orphanet epidemiological data:

59
syndactyly type 8
Inheritance: Autosomal dominant,X-linked recessive;

OMIM:

57
Inheritance:
x-linked recessive


HPO:

32
metacarpal 4-5 fusion:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 57 309630
Orphanet 59 ORPHA2498
ICD10 via Orphanet 34 Q70.0
UMLS via Orphanet 74 C1839728
MedGen 42 C1839728
MeSH 44 D006228
KEGG 37 H01854
UMLS 73 C1839728

Summaries for Metacarpal 4-5 Fusion

UniProtKB/Swiss-Prot : 75 Metacarpal 4-5 fusion: A rare congenital malformation of the hand characterized by the partial or complete fusion of the fourth and fifth metacarpals. The anomaly occurs as an isolated trait or part of a syndrome.

MalaCards based summary : Metacarpal 4-5 Fusion, is also known as mf4. An important gene associated with Metacarpal 4-5 Fusion is FGF16 (Fibroblast Growth Factor 16). Affiliated tissues include bone, and related phenotype is fused fourth and fifth metacarpals.

Description from OMIM: 309630

Related Diseases for Metacarpal 4-5 Fusion

Symptoms & Phenotypes for Metacarpal 4-5 Fusion

Symptoms via clinical synopsis from OMIM:

57
Skeletal Hands:
fusion of fourth and fifth metacarpals
shortening of the fifth metacarpal

Skeletal Feet:
syndactyly of toes 2-3 (in some patients)


Clinical features from OMIM:

309630

Human phenotypes related to Metacarpal 4-5 Fusion:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fused fourth and fifth metacarpals 59 32 hallmark (90%) Very frequent (99-80%) HP:0005867

Drugs & Therapeutics for Metacarpal 4-5 Fusion

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study Evaluating the Safety and Efficacy of VX-440 Combination Therapy in Subjects With Cystic Fibrosis Completed NCT02951182 Phase 2 Tezacaftor;Ivacaftor;VX-440;Matched Placebos

Search NIH Clinical Center for Metacarpal 4-5 Fusion

Genetic Tests for Metacarpal 4-5 Fusion

Anatomical Context for Metacarpal 4-5 Fusion

MalaCards organs/tissues related to Metacarpal 4-5 Fusion:

41
Bone

Publications for Metacarpal 4-5 Fusion

Articles related to Metacarpal 4-5 Fusion:

# Title Authors Year
1
Identification of a novel familial FGF16 mutation in metacarpal 4-5 fusion. ( 24878828 )
2014
2
Metacarpal 4-5 fusion with X-linked recessive inheritance. ( 4538283 )
1972

Variations for Metacarpal 4-5 Fusion

UniProtKB/Swiss-Prot genetic disease variations for Metacarpal 4-5 Fusion:

75
# Symbol AA change Variation ID SNP ID
1 FGF16 p.Arg68Leu VAR_072396

ClinVar genetic disease variations for Metacarpal 4-5 Fusion:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FGF16 NM_003868.2(FGF16): c.535C> T (p.Arg179Ter) single nucleotide variant Pathogenic rs587777050 GRCh37 Chromosome X, 76711924: 76711924
2 FGF16 NM_003868.2(FGF16): c.535C> T (p.Arg179Ter) single nucleotide variant Pathogenic rs587777050 GRCh38 Chromosome X, 77456433: 77456433
3 FGF16 NM_003868.2(FGF16): c.470C> A (p.Ser157Ter) single nucleotide variant Pathogenic rs587777051 GRCh37 Chromosome X, 76711859: 76711859
4 FGF16 NM_003868.2(FGF16): c.470C> A (p.Ser157Ter) single nucleotide variant Pathogenic rs587777051 GRCh38 Chromosome X, 77456368: 77456368
5 FGF16 NM_003868.2(FGF16): c.275_293dup19 (p.Ser98Argfs) duplication Pathogenic rs606231304 GRCh38 Chromosome X, 77454157: 77454175
6 FGF16 NM_003868.2(FGF16): c.275_293dup19 (p.Ser98Argfs) duplication Pathogenic rs606231304 GRCh37 Chromosome X, 76709648: 76709666

Expression for Metacarpal 4-5 Fusion

Search GEO for disease gene expression data for Metacarpal 4-5 Fusion.

Pathways for Metacarpal 4-5 Fusion

GO Terms for Metacarpal 4-5 Fusion

Sources for Metacarpal 4-5 Fusion

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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