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 ¹¹ ⁷³ ³⁸ ⁷¹

Syndactyly Type 8 ¹¹ ⁵⁸ ²⁸ ⁵ ¹⁴

Fusion of Metacarpals 4 and 5 ¹¹ ⁵⁸

Mf4 ⁵⁷ ⁷³

Metacarpals 4 and 5 Fusion ¹⁹

Metacarpal 4 5 Fusion ⁴³

Characteristics:

Inheritance:

Metacarpal 4-5 Fusion: X-linked recessive ⁵⁷

Syndactyly Type 8: Autosomal dominant,X-linked recessive ⁵⁸

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³²

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Syndactyly

Fused fingers

Orphanet: ⁵⁸

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹¹ DOID:0111813

OMIM® ⁵⁷ 309630

MeSH ⁴³ C564100 D006228

SNOMED-CT ⁶⁸ 715442006

ICD10 via Orphanet ³² Q70.0

UMLS via Orphanet ⁷² C1839728

Orphanet ⁵⁸ ORPHA2498

MedGen ⁴⁰ C1839728

UMLS ⁷¹ C1839728

Sources

Summaries for Metacarpal 4-5 Fusion

GARD: ¹⁹ A rare non-syndromic syndactyly characterized by unilateral or bilateral fusion of the 4th and 5th metacarpals with no other associated abnormalities. Patients present shortened 4th and 5th metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the 5th finger in parallel with the other fingers.

MalaCards based summary: Metacarpal 4-5 Fusion, also known as syndactyly type 8, is related to poland syndrome and spondyloepimetaphyseal dysplasia, x-linked. 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 4-5 metacarpal synostosis and limbs/digits/tail

Orphanet: ⁵⁸ A rare non-syndromic syndactyly characterized by unilateral or bilateral fusion of the 4th and 5th metacarpals with no other associated abnormalities. Patients present shortened 4th and 5th metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the 5th finger in parallel with the other fingers.

UniProtKB/Swiss-Prot: ⁷³ 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.

Disease Ontology: ¹¹ 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.

More information from OMIM: 309630

Sources

Related Diseases for Metacarpal 4-5 Fusion

Diseases related to Metacarpal 4-5 Fusion via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)

#	Related Disease	Score	Top Affiliating Genes
1	poland syndrome	10.1	FGF16 BHLHA9
2	spondyloepimetaphyseal dysplasia, x-linked	10.1	LMBR1 BHLHA9
3	myopia	10.0
4	tibia, hypoplasia or aplasia of, with polydactyly	9.9	LMBR1 HOXD12
5	brachydactyly-syndactyly syndrome	9.9	LMBR1 HOXD12
6	greig cephalopolysyndactyly syndrome	9.8	LMBR1 FGF8
7	split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive	9.8	FGF8 BHLHA9
8	laurin-sandrow syndrome	9.8	LMBR1 HOXD12 BHLHA9
9	pallister-hall syndrome	9.8	LMBR1 FGF8
10	syndactyly, type iii	9.7	LMBR1 FGF16 FBLN1 AKIRIN1
11	synpolydactyly	9.7	LMBR1 HOXD12 FBLN1
12	crouzon syndrome	9.7	FGF8 FGF16
13	split hand-foot malformation	9.7	FGF8 BHLHA9
14	chromosomal duplication syndrome	9.7	LMBR1 FGF8 BHLHA9
15	synostosis	9.6	LMBR1 FGF8 BHLHA9
16	hand-foot-genital syndrome	9.6	HOXD12 FGF8
17	bone development disease	9.6	LMBR1 FGF8
18	syndactyly, type iv	9.4	LMBR1 HOXD12 FGF8 FGF16
19	chromosome 2q35 duplication syndrome	8.9	LMBR1 HOXD12 FGF8 FGF16 FBLN1 BHLHA9

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

Sources

Symptoms & Phenotypes for Metacarpal 4-5 Fusion

Human phenotypes related to Metacarpal 4-5 Fusion:

³⁰

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	4-5 metacarpal synostosis ³⁰			HP:0005867

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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 08-Dec-2022)

MGI Mouse Phenotypes related to Metacarpal 4-5 Fusion:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	limbs/digits/tail	MP:0005371	9.02	BHLHA9 FBLN1 FGF8 HOXD12 LMBR1

Sources

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

Sources

Genetic Tests for Metacarpal 4-5 Fusion

Genetic tests related to Metacarpal 4-5 Fusion:

#	Genetic test	Affiliating Genes
1	Syndactyly Type 8 ²⁸	FGF16

Sources

Anatomical Context for Metacarpal 4-5 Fusion

Organs/tissues related to Metacarpal 4-5 Fusion:

MalaCards : Bone

Sources

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. ⁶² ⁵⁷ ⁵	Jones B...Newman WG	24878828	2014
2	Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion. ⁶² ⁵⁷ ⁵	Jamsheer A...Mundlos S	23709756	2013
3	Metacarpal 4-5 fusion with X-linked recessive inheritance. ⁶² ⁵⁷	Holmes LB...Miettinen OS	4538283	1972
4	A family with X-linked recessive fusion of metacarpals IV and V. ⁵⁷	Lonardo F...Scarano G	14735591	2004
5	X-linked recessive fusion of metacarpals IV and V and hypoplastic metacarpal V. ⁵⁷	Anneren G...Amilon A	7802024	1994
6	[Familial synostosis of metacarpi IV and V]. ⁵⁷	Habighorst LV...Albers P	4223440	1965
7	Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5. ⁶²	Jamsheer A...Mundlos S	24706454	2014
8	Bilateral aplasia of the thumb, proximal radioulnar synostosis and unilateral synostosis of metacarpals 4 and 5. ⁶²	Debeer P...Fryns JP	15083702	2004
9	Syndactyly type V. ⁶²	Robinow M...Broock GJ	6283889	1982

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	PubMed IDs
1	FGF16	Fibroblast Growth Factor 16	Protein Coding	1695.9	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	23709756 24878828
2	AKIRIN1	Akirin 1	Protein Coding	5.03	DISEASES inferred ¹⁴
3	LMBR1	Limb Development Membrane Protein 1	Protein Coding	4.82	DISEASES inferred ¹⁴
4	AKIRIN2	Akirin 2	Protein Coding	4.74	DISEASES inferred ¹⁴
5	BHLHA9	Basic Helix-Loop-Helix Family Member A9	Protein Coding	4.73	DISEASES inferred ¹⁴
6	LCTL	Lactase Like	Protein Coding	4.57	DISEASES inferred ¹⁴
7	SH3BP4	SH3 Domain Binding Protein 4	Protein Coding	4.56	DISEASES inferred ¹⁴
8	HOXD12	Homeobox D12	Protein Coding	4.31	DISEASES inferred ¹⁴
9	FGF8	Fibroblast Growth Factor 8	Protein Coding	4.28	DISEASES inferred ¹⁴
10	FBLN1	Fibulin 1	Protein Coding	4.18	DISEASES inferred ¹⁴

Sources

Variations for Metacarpal 4-5 Fusion

ClinVar genetic disease variations for Metacarpal 4-5 Fusion:

⁵

#	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	DUP	Pathogenic	160345	rs606231304	GRCh37: X:76709645-76709646 GRCh38: X:77454154-77454155

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

⁷³

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

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

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

#	Super pathways	Score	Top Affiliating Genes
1	FGFR3 mutant receptor activation ⁶⁶ Show member pathways FGFR3 ligand binding and activation ⁶⁶ FGFR3b ligand binding and activation ⁶⁶ FGFR3c ligand binding and activation ⁶⁶ Signaling by activated point mutants of FGFR3 ⁶⁶	10.38	FGF8 FGF16

Sources

GO Terms for Metacarpal 4-5 Fusion

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

#	Name	GO ID	Score	Top Affiliating Genes
1	embryo development ending in birth or egg hatching	GO:0009792	8.8	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	8.92	FGF8 FGF16

Sources

Sources for Metacarpal 4-5 Fusion

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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 Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MF4 MCID: MTC100 MIFTS: 31	Metacarpal 4-5 Fusion (MF4) Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Metacarpal 4-5 Fusion (MF4)

Aliases & Classifications for Metacarpal 4-5 Fusion

MalaCards integrated aliases for Metacarpal 4-5 Fusion:

Characteristics:

Inheritance:

Classifications:

External Ids:

Summaries for Metacarpal 4-5 Fusion

Related Diseases for Metacarpal 4-5 Fusion

Diseases related to Metacarpal 4-5 Fusion via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to 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®:

MGI Mouse Phenotypes related to Metacarpal 4-5 Fusion:

Drugs & Therapeutics 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:

Anatomical Context for Metacarpal 4-5 Fusion

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

ClinVar genetic disease variations for Metacarpal 4-5 Fusion:

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

Expression for Metacarpal 4-5 Fusion

Pathways for Metacarpal 4-5 Fusion

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

GO Terms for Metacarpal 4-5 Fusion

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

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

Sources for Metacarpal 4-5 Fusion