TPFS
MCID: TRN074
MIFTS: 14

Turnpenny-Fry Syndrome (TPFS)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Turnpenny-Fry Syndrome

MalaCards integrated aliases for Turnpenny-Fry Syndrome:

Name: Turnpenny-Fry Syndrome 58 6
Neurocardioskeletal Syndrome 58
Tpfs 58

Classifications:



External Ids:

OMIM 58 618371

Summaries for Turnpenny-Fry Syndrome

OMIM : 58 Turnpenny-Fry syndrome (TPFS) is characterized by developmental delay, impaired intellectual development, impaired growth, and recognizable facial features that include frontal bossing, sparse hair, malar hypoplasia, small palpebral fissures and oral stoma, and dysplastic 'satyr' ears. Other common findings include feeding problems, constipation, and a range of brain, cardiac, vascular, and skeletal malformations (Turnpenny et al., 2018). (618371)

MalaCards based summary : Turnpenny-Fry Syndrome, also known as neurocardioskeletal syndrome, is related to squamous cell carcinoma and squamous cell carcinoma, head and neck. An important gene associated with Turnpenny-Fry Syndrome is PCGF2 (Polycomb Group Ring Finger 2). Affiliated tissues include brain.

Related Diseases for Turnpenny-Fry Syndrome

Diseases related to Turnpenny-Fry Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 squamous cell carcinoma 10.6
2 squamous cell carcinoma, head and neck 10.5
3 nasopharyngeal carcinoma 10.3
4 pemphigus foliaceus 10.3
5 oral squamous cell carcinoma 10.3
6 laryngeal squamous cell carcinoma 10.2
7 heparin-induced thrombocytopenia 10.1
8 frasier syndrome 10.0
9 gastric cancer 10.0
10 neutropenia 10.0
11 bone resorption disease 10.0
12 larynx cancer 10.0

Graphical network of the top 20 diseases related to Turnpenny-Fry Syndrome:



Diseases related to Turnpenny-Fry Syndrome

Symptoms & Phenotypes for Turnpenny-Fry Syndrome

Clinical features from OMIM:

618371

Drugs & Therapeutics for Turnpenny-Fry Syndrome

Search Clinical Trials , NIH Clinical Center for Turnpenny-Fry Syndrome

Genetic Tests for Turnpenny-Fry Syndrome

Anatomical Context for Turnpenny-Fry Syndrome

MalaCards organs/tissues related to Turnpenny-Fry Syndrome:

42
Brain

Publications for Turnpenny-Fry Syndrome

Articles related to Turnpenny-Fry Syndrome:

# Title Authors Year
1
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features. ( 30343942 )
2018
2
Polycomb group proteins Ring1A/B link ubiquitylation of histone H2A to heritable gene silencing and X inactivation. ( 15525528 )
2004

Variations for Turnpenny-Fry Syndrome

ClinVar genetic disease variations for Turnpenny-Fry Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PCGF2 NM_007144.3(PCGF2): c.194C> T (p.Pro65Leu) single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 17, 38739601: 38739601
2 PCGF2 NM_007144.3(PCGF2): c.194C> T (p.Pro65Leu) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 17, 36895854: 36895854
3 PCGF2 NC_000017.11: g.38739602G> A single nucleotide variant Pathogenic GRCh37 Chromosome 17, 36895855: 36895855
4 PCGF2 NC_000017.11: g.38739602G> A single nucleotide variant Pathogenic GRCh38 Chromosome 17, 38739602: 38739602

Expression for Turnpenny-Fry Syndrome

Search GEO for disease gene expression data for Turnpenny-Fry Syndrome.

Pathways for Turnpenny-Fry Syndrome

GO Terms for Turnpenny-Fry Syndrome

Sources for Turnpenny-Fry Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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47 MGI
50 NCI
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55 NINDS
56 Novoseek
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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