Metacarpal 4-5 Fusion disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Syndactyly

Fused fingers

Orphanet: ⁵⁹

Rare bone diseases

Developmental anomalies during embryogenesis

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

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Summaries for Metacarpal 4-5 Fusion

NIH Rare Diseases : ⁵³ 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 : 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.

Description from OMIM: 309630

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Related Diseases for Metacarpal 4-5 Fusion

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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

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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

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Genetic Tests for Metacarpal 4-5 Fusion

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Anatomical Context for Metacarpal 4-5 Fusion

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

⁴¹

Bone

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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 )	Wang X...Andrews L	2010
4	Haemorheological evaluation with the Filtrometer MF4 in a group of diabetics. ( 3431525 )	Caimi G...Sarno A	1986
5	Metacarpal 4-5 fusion with X-linked recessive inheritance. ( 4538283 )	Holmes L.B....Miettinen O.S.	1972

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Genes for Metacarpal 4-5 Fusion

Genes related to Metacarpal 4-5 Fusion (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	FGF16	Fibroblast Growth Factor 16	Protein Coding	1608.99	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)	23709756 24878828

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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

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Expression for Metacarpal 4-5 Fusion

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

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Pathways for Metacarpal 4-5 Fusion

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GO Terms for Metacarpal 4-5 Fusion

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Sources for Metacarpal 4-5 Fusion

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Metacarpal 4-5 Fusion (MF4)

Aliases & Classifications for Metacarpal 4-5 Fusion

MalaCards integrated aliases for Metacarpal 4-5 Fusion:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Metacarpal 4-5 Fusion

Related Diseases for Metacarpal 4-5 Fusion

Symptoms & Phenotypes for Metacarpal 4-5 Fusion

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Metacarpal 4-5 Fusion:

Drugs & Therapeutics for Metacarpal 4-5 Fusion

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

Interventional clinical trials:

Genetic Tests for Metacarpal 4-5 Fusion

Anatomical Context for Metacarpal 4-5 Fusion

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

Publications for Metacarpal 4-5 Fusion

Articles related to Metacarpal 4-5 Fusion:

Genes for Metacarpal 4-5 Fusion

Genes related to Metacarpal 4-5 Fusion (1 elite genes):

Variations for Metacarpal 4-5 Fusion

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

ClinVar genetic disease variations for Metacarpal 4-5 Fusion:

Expression for Metacarpal 4-5 Fusion

Pathways for Metacarpal 4-5 Fusion

GO Terms for Metacarpal 4-5 Fusion

Sources for Metacarpal 4-5 Fusion