MF4
MCID: MTC100
MIFTS: 32

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 57 12 72 36 29 6 70
Syndactyly Type 8 12 58 15
Fusion of Metacarpals 4 and 5 12 58
Mf4 57 72
Metacarpals 4 and 5 Fusion 20
Metacarpal 4 5 Fusion 44

Characteristics:

Orphanet epidemiological data:

58
syndactyly type 8
Inheritance: Autosomal dominant,X-linked recessive;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
x-linked recessive


HPO:

31
metacarpal 4-5 fusion:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111813
OMIM® 57 309630
KEGG 36 H01854
SNOMED-CT 67 715442006
ICD10 via Orphanet 33 Q70.0
UMLS via Orphanet 71 C1839728
Orphanet 58 ORPHA2498
MedGen 41 C1839728
UMLS 70 C1839728

Summaries for Metacarpal 4-5 Fusion

KEGG : 36 Metacarpal 4-5 fusion (MF4) is a rare congenital malformation of the hands characterised by the partial or complete fusion of the fourth and fifth metacarpal bones. The anomaly manifests clinically as ulnar deviation of the fifth fingers, clinodactyly, reduced mobility, and shortening of the fifth metacarpals. MF4 can occur in either an isolated manner or with other features, as part of a syndromal diagnosis, for example, in Kallmann syndrome. In most of the reported families, isolated MF4 was inherited in an X-linked recessive manner, although pedigrees typical of autosomal dominant inheritance have been described. Several reports provide evidence that mutations in FGF16 are associated with isolated X-linked recessive MF4. Syndactyly type V (SD5) is an isolated limb malformation showing partial clinical overlap with MF4, in which metacarpal but additionally metatarsal synostosis coexists with other hand and foot abnormalities clearly distinguishing the two conditions.

MalaCards based summary : Metacarpal 4-5 Fusion, also known as syndactyly type 8, is related to deafness, autosomal recessive 71 and crouzon syndrome. An important gene associated with Metacarpal 4-5 Fusion is FGF16 (Fibroblast Growth Factor 16), and among its related pathways/superpathways is FGFR3 mutant receptor activation. Affiliated tissues include bone, and related phenotypes are fused fourth and fifth metacarpals and limbs/digits/tail

Disease Ontology : 12 A syndactyly characterized by isolated fusion of the fourth and fifth metacarpals that has material basis in hemizygous or homozygous mutation in FGF16 on chromosome Xq21.1.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2498 Definition Syndactyly 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.

UniProtKB/Swiss-Prot : 72 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.

More information from OMIM: 309630

Related Diseases for Metacarpal 4-5 Fusion

Graphical network of the top 20 diseases related to Metacarpal 4-5 Fusion:



Diseases related to Metacarpal 4-5 Fusion

Symptoms & Phenotypes for Metacarpal 4-5 Fusion

Human phenotypes related to Metacarpal 4-5 Fusion:

31
# Description HPO Frequency HPO Source Accession
1 fused fourth and fifth metacarpals 31 HP:0005867

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Metacarpal 4-5 Fusion:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.92 BHLHA9 FGF8 HOXD12 LMBR1

Drugs & Therapeutics for Metacarpal 4-5 Fusion

Search Clinical Trials , NIH Clinical Center for Metacarpal 4-5 Fusion

Cochrane evidence based reviews: metacarpal 4 5 fusion

Genetic Tests for Metacarpal 4-5 Fusion

Genetic tests related to Metacarpal 4-5 Fusion:

# Genetic test Affiliating Genes
1 Metacarpal 4-5 Fusion 29 FGF16

Anatomical Context for Metacarpal 4-5 Fusion

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

40
Bone

Publications for Metacarpal 4-5 Fusion

Articles related to Metacarpal 4-5 Fusion:

# Title Authors PMID Year
1
Identification of a novel familial FGF16 mutation in metacarpal 4-5 fusion. 57 6 61
24878828 2014
2
Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion. 57 6 61
23709756 2013
3
Metacarpal 4-5 fusion with X-linked recessive inheritance. 57 61
4538283 1972
4
A family with X-linked recessive fusion of metacarpals IV and V. 57
14735591 2004
5
X-linked recessive fusion of metacarpals IV and V and hypoplastic metacarpal V. 57
7802024 1994
6
[Familial synostosis of metacarpi IV and V]. 57
4223440 1965
7
Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5. 61
24706454 2014
8
Syndactyly type V. 61
6283889 1982

Variations for Metacarpal 4-5 Fusion

ClinVar genetic disease variations for Metacarpal 4-5 Fusion:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FGF16 NM_003868.3(FGF16):c.535C>T (p.Arg179Ter) SNV Pathogenic 66059 rs587777050 GRCh37: X:76711924-76711924
GRCh38: X:77456433-77456433
2 FGF16 NM_003868.3(FGF16):c.470C>A (p.Ser157Ter) SNV Pathogenic 66060 rs587777051 GRCh37: X:76711859-76711859
GRCh38: X:77456368-77456368
3 FGF16 NM_003868.2(FGF16):c.275_293dup (p.Ser98Argfs) Duplication Pathogenic 160345 rs606231304 GRCh37: X:76709645-76709646
GRCh38: X:77454154-77454155

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

72
# Symbol AA change Variation ID SNP ID
1 FGF16 p.Arg68Leu VAR_072396

Expression for Metacarpal 4-5 Fusion

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

Pathways for Metacarpal 4-5 Fusion

Pathways related to Metacarpal 4-5 Fusion according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.39 FGF8 FGF16

GO Terms for Metacarpal 4-5 Fusion

Cellular components related to Metacarpal 4-5 Fusion according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 8.92 HOXD12 BHLHA9 AKIRIN2 AKIRIN1

Biological processes related to Metacarpal 4-5 Fusion according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.5 FGF8 FGF16 AKIRIN2
2 multicellular organism development GO:0007275 9.46 HOXD12 FGF8 BHLHA9 AKIRIN2
3 regulation of cell migration GO:0030334 9.37 FGF8 FGF16
4 fibroblast growth factor receptor signaling pathway GO:0008543 9.26 FGF8 FGF16
5 embryonic digit morphogenesis GO:0042733 8.96 LMBR1 HOXD12
6 embryo development ending in birth or egg hatching GO:0009792 8.62 FGF8 AKIRIN2

Molecular functions related to Metacarpal 4-5 Fusion according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 fibroblast growth factor receptor binding GO:0005104 8.62 FGF8 FGF16

Sources for Metacarpal 4-5 Fusion

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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