MF4
MCID: MTC100
MIFTS: 20

Metacarpal 4-5 Fusion (MF4)

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

Aliases & Classifications for Metacarpal 4-5 Fusion

MalaCards integrated aliases for Metacarpal 4-5 Fusion:

Name: Metacarpal 4-5 Fusion 58 76 38 6 74
Mf4 58 76
Fusion of Metacarpals 4 and 5 60
Metacarpals 4 and 5 Fusion 54
Syndactyly Type 8 60

Characteristics:

Orphanet epidemiological data:

60
syndactyly type 8
Inheritance: Autosomal dominant,X-linked recessive;

OMIM:

58
Inheritance:
x-linked recessive


HPO:

33
metacarpal 4-5 fusion:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 58 309630
KEGG 38 H01854
MeSH 45 D006228
ICD10 via Orphanet 35 Q70.0
UMLS via Orphanet 75 C1839728
Orphanet 60 ORPHA2498
MedGen 43 C1839728
UMLS 74 C1839728

Summaries for Metacarpal 4-5 Fusion

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2498Disease definitionSyndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers.Visit the Orphanet disease page for more resources.

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). The drug Ivacaftor has been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotype is fused fourth and fifth metacarpals.

UniProtKB/Swiss-Prot : 76 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.

Description from OMIM: 309630

Related Diseases for Metacarpal 4-5 Fusion

Symptoms & Phenotypes for Metacarpal 4-5 Fusion

Human phenotypes related to Metacarpal 4-5 Fusion:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fused fourth and fifth metacarpals 60 33 hallmark (90%) Very frequent (99-80%) HP:0005867

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Metacarpal 4-5 Fusion

Drugs for Metacarpal 4-5 Fusion (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ivacaftor Approved Phase 2 873054-44-5 16220172

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:

42
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
Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion. ( 23709756 )
2013
3
Infrared spectra of MF2, MF2+, MF4-, MF3, and M2F6 molecules (M = Sc, Y, La) in solid argon. ( 20104871 )
2010
4
Haemorheological evaluation with the Filtrometer MF4 in a group of diabetics. ( 3431525 )
1986
5
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:

76
# 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 GRCh38 Chromosome X, 77456433: 77456433
2 FGF16 NM_003868.2(FGF16): c.535C> T (p.Arg179Ter) single nucleotide variant Pathogenic rs587777050 GRCh37 Chromosome X, 76711924: 76711924
3 FGF16 NM_003868.2(FGF16): c.275_293dup (p.Ser98Argfs) duplication Pathogenic rs606231304 GRCh37 Chromosome X, 76709648: 76709666
4 FGF16 NM_003868.2(FGF16): c.275_293dup (p.Ser98Argfs) duplication Pathogenic rs606231304 GRCh38 Chromosome X, 77454157: 77454175
5 FGF16 NM_003868.2(FGF16): c.470C> A (p.Ser157Ter) single nucleotide variant Pathogenic rs587777051 GRCh38 Chromosome X, 77456368: 77456368
6 FGF16 NM_003868.2(FGF16): c.470C> A (p.Ser157Ter) single nucleotide variant Pathogenic rs587777051 GRCh37 Chromosome X, 76711859: 76711859

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 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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