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 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:

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

See all MalaCards categories (disease lists)

ICD10: ³⁵

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Syndactyly

Fused fingers

Orphanet: ⁶⁰

Rare bone diseases

Developmental anomalies during embryogenesis

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

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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

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Related Diseases for Metacarpal 4-5 Fusion

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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

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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:

⁴²

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 )	Jones B...Newman WG	2014
2	Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion. ( 23709756 )	Jamsheer A...Mundlos S	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 LB...Miettinen OS	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	1608.97	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ 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:

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	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_293dup (p.Ser98Argfs)	duplication	Pathogenic	rs606231304	GRCh38	Chromosome X, 77454157: 77454175
6	FGF16	NM_003868.2(FGF16): c.275_293dup (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 EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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

Human phenotypes related to Metacarpal 4-5 Fusion:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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