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

Sources

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

Sources

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

Sources

Related Diseases for Metacarpal 4-5 Fusion

Sources

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

Sources

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

Sources

Genetic Tests for Metacarpal 4-5 Fusion

Sources

Anatomical Context for Metacarpal 4-5 Fusion

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

⁴¹

Bone

Sources

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 W.G.	2014
2	Metacarpal 4-5 fusion with X-linked recessive inheritance. ( 4538283 )	Holmes L.B....Miettinen O.S.	1972

Sources

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	1609.41	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

Sources

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

Sources

Expression for Metacarpal 4-5 Fusion

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

Sources

Pathways for Metacarpal 4-5 Fusion

Sources

GO Terms for Metacarpal 4-5 Fusion

Sources

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