Multiple Synostoses Syndrome 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Multiple Synostoses Syndrome 4

MalaCards integrated aliases for Multiple Synostoses Syndrome 4:

Name: Multiple Synostoses Syndrome 4 ⁵⁷ ⁷⁵ ⁶

Syns4 ⁵⁷ ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
variable age at onset of hearing loss, ranging from the first decade to the fifth decade of life

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 617898

MedGen ⁴² CN842246

MeSH ⁴⁴ D013580

SNOMED-CT via HPO ⁶⁹ 11543004 43476002 203534009 more

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Summaries for Multiple Synostoses Syndrome 4

UniProtKB/Swiss-Prot : ⁷⁵ Multiple synostoses syndrome 4: A bone disease characterized by multiple progressive joint fusions that commonly involve proximal interphalangeal, tarsal-carpal, humeroradial and cervical spine joints. Additional features can include progressive conductive deafness and facial dysmorphism. SYNS4 inheritance is autosomal dominant.

MalaCards based summary : Multiple Synostoses Syndrome 4, is also known as syns4. An important gene associated with Multiple Synostoses Syndrome 4 is GDF6 (Growth Differentiation Factor 6). Affiliated tissues include bone, and related phenotypes are pes planus and brachydactyly

OMIM : ⁵⁷ Multiple synostoses syndrome-4 is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss (Terhal et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of multiple synostoses syndrome, see SYNS1 (186500). (617898)

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Related Diseases for Multiple Synostoses Syndrome 4

Diseases in the Multiple Synostoses Syndrome family:

Multiple Synostoses Syndrome 1	Multiple Synostoses Syndrome 2
Multiple Synostoses Syndrome 3	Multiple Synostoses Syndrome 4

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Symptoms & Phenotypes for Multiple Synostoses Syndrome 4

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Ears:
otosclerosis
stapes fixation
conductive hearing loss, progressive

Skeletal Hands:
brachydactyly (in some patients)
carpal fusions
fifth-finger clinodactyly (in some patients)

Skeletal Feet:
flat feet
symphalangism
broad feet
overlapping toes
tarsal fusions

Clinical features from OMIM:

617898

Human phenotypes related to Multiple Synostoses Syndrome 4:

³² (show all 6)

#	Description	HPO Frequency	HPO Source Accession
1	pes planus ³²		HP:0001763
2	brachydactyly ³²	very rare (1%)	HP:0001156
3	tarsal synostosis ³²		HP:0008368
4	otosclerosis ³²		HP:0000362
5	broad foot ³²		HP:0001769
6	overlapping toe ³²		HP:0001845

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Drugs & Therapeutics for Multiple Synostoses Syndrome 4

Search Clinical Trials , NIH Clinical Center for Multiple Synostoses Syndrome 4

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Genetic Tests for Multiple Synostoses Syndrome 4

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Anatomical Context for Multiple Synostoses Syndrome 4

MalaCards organs/tissues related to Multiple Synostoses Syndrome 4:

⁴¹

Bone

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Publications for Multiple Synostoses Syndrome 4

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Genes for Multiple Synostoses Syndrome 4

Genes related to Multiple Synostoses Syndrome 4 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GDF6	Growth Differentiation Factor 6	Protein Coding	1227.62	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ GeneCards inferred via : Disorders Variants (show sections)	29130651 26643732

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Variations for Multiple Synostoses Syndrome 4

UniProtKB/Swiss-Prot genetic disease variations for Multiple Synostoses Syndrome 4:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	GDF6	p.Tyr444Asn	VAR_075366

ClinVar genetic disease variations for Multiple Synostoses Syndrome 4:

⁶

#	Gene	Variation	Type	Significance	Assembly	Location
1	GDF6	NM_001001557.3(GDF6): c.1287C> A (p.Ser429Arg)	single nucleotide variant	Pathogenic	GRCh38	Chromosome 8, 96144644: 96144644
2	GDF6	NM_001001557.3(GDF6): c.1287C> A (p.Ser429Arg)	single nucleotide variant	Pathogenic	GRCh37	Chromosome 8, 97156872: 97156872
3	GDF6	NM_001001557.3(GDF6): c.1330T> A (p.Tyr444Asn)	single nucleotide variant	Pathogenic	GRCh38	Chromosome 8, 96144601: 96144601
4	GDF6	NM_001001557.3(GDF6): c.1330T> A (p.Tyr444Asn)	single nucleotide variant	Pathogenic	GRCh37	Chromosome 8, 97156829: 97156829

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Expression for Multiple Synostoses Syndrome 4

Search GEO for disease gene expression data for Multiple Synostoses Syndrome 4.

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Pathways for Multiple Synostoses Syndrome 4

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GO Terms for Multiple Synostoses Syndrome 4

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Sources for Multiple Synostoses Syndrome 4

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Multiple Synostoses Syndrome 4 (SYNS4)

Aliases & Classifications for Multiple Synostoses Syndrome 4

MalaCards integrated aliases for Multiple Synostoses Syndrome 4:

Characteristics:

OMIM:

Classifications:

External Ids:

Summaries for Multiple Synostoses Syndrome 4

Related Diseases for Multiple Synostoses Syndrome 4

Diseases in the Multiple Synostoses Syndrome family:

Symptoms & Phenotypes for Multiple Synostoses Syndrome 4

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Multiple Synostoses Syndrome 4:

Drugs & Therapeutics for Multiple Synostoses Syndrome 4

Genetic Tests for Multiple Synostoses Syndrome 4

Anatomical Context for Multiple Synostoses Syndrome 4

MalaCards organs/tissues related to Multiple Synostoses Syndrome 4:

Publications for Multiple Synostoses Syndrome 4

Genes for Multiple Synostoses Syndrome 4

Genes related to Multiple Synostoses Syndrome 4 (1 elite genes):

Variations for Multiple Synostoses Syndrome 4

UniProtKB/Swiss-Prot genetic disease variations for Multiple Synostoses Syndrome 4:

ClinVar genetic disease variations for Multiple Synostoses Syndrome 4:

Expression for Multiple Synostoses Syndrome 4

Pathways for Multiple Synostoses Syndrome 4

GO Terms for Multiple Synostoses Syndrome 4

Sources for Multiple Synostoses Syndrome 4