CSS7
MCID: CFF012
MIFTS: 18

Coffin-Siris Syndrome 7 (CSS7)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Coffin-Siris Syndrome 7

MalaCards integrated aliases for Coffin-Siris Syndrome 7:

Name: Coffin-Siris Syndrome 7 58 76 30 6
Css7 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
de novo mutation


Classifications:



External Ids:

OMIM 58 618027
MedGen 43 CN248780

Summaries for Coffin-Siris Syndrome 7

UniProtKB/Swiss-Prot : 76 Coffin-Siris syndrome 7: A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported. CSS7 inheritance is autosomal dominant.

MalaCards based summary : Coffin-Siris Syndrome 7, is also known as css7. An important gene associated with Coffin-Siris Syndrome 7 is DPF2 (Double PHD Fingers 2). Affiliated tissues include heart.

OMIM : 58 Coffin-Siris syndrome-7 is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails (summary by Vasileiou et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900). (618027)

Related Diseases for Coffin-Siris Syndrome 7

Symptoms & Phenotypes for Coffin-Siris Syndrome 7

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
strabismus
hypermetropia
downslanting palpebral fissures
thick eyebrows

Abdomen Gastrointestinal:
constipation
poor feeding

Neurologic Central Nervous System:
global developmental delay
intellectual disability, mild to moderate
delayed speech
delayed walking (around 2 years of age)

Growth Height:
short stature

Head And Neck Mouth:
wide mouth
thin upper lip
thick lower vermilion

Skin Nails Hair Hair:
sparse scalp hair

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
temper tantrums
stereotypic movements
obsessive compulsive behavior

Muscle Soft Tissue:
hypotonia

Skeletal Skull:
sagittal craniosynostosis (uncommon)
trigonocephaly (uncommon)

Head And Neck Ears:
low-set ears
hearing impairment
posteriorly rotated ears
large ears
otitis media, recurrent

Head And Neck Face:
coarse facial features
prominent forehead
short philtrum
broad philtrum

Head And Neck Nose:
depressed nasal bridge
small alae nasi
thick alae nasi

Head And Neck Teeth:
microdontia
delayed dentition

Skeletal Hands:
brachydactyly
clinodactyly (fifth finger)

Skin Nails Hair Nails:
hypoplastic fifth toenail
hypoplastic finger and toenails

Cardiovascular Heart:
congenital heart defects (in some patients)
septal defects
persistent foramen ovale
valvular abnormalities

Growth Other:
poor overall growth

Clinical features from OMIM:

618027

Drugs & Therapeutics for Coffin-Siris Syndrome 7

Search Clinical Trials , NIH Clinical Center for Coffin-Siris Syndrome 7

Genetic Tests for Coffin-Siris Syndrome 7

Genetic tests related to Coffin-Siris Syndrome 7:

# Genetic test Affiliating Genes
1 Coffin-Siris Syndrome 7 30 DPF2

Anatomical Context for Coffin-Siris Syndrome 7

MalaCards organs/tissues related to Coffin-Siris Syndrome 7:

42
Heart

Publications for Coffin-Siris Syndrome 7

Variations for Coffin-Siris Syndrome 7

UniProtKB/Swiss-Prot genetic disease variations for Coffin-Siris Syndrome 7:

76
# Symbol AA change Variation ID SNP ID
1 DPF2 p.Cys276Phe VAR_081047
2 DPF2 p.Cys330Trp VAR_081048
3 DPF2 p.Asp346Gly VAR_081049
4 DPF2 p.Arg350His VAR_081050
5 DPF2 p.Trp369Arg VAR_081051

ClinVar genetic disease variations for Coffin-Siris Syndrome 7:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DPF2 NM_006268.4(DPF2): c.827G> T (p.Cys276Phe) single nucleotide variant Pathogenic rs1555031372 GRCh38 Chromosome 11, 65345981: 65345981
2 DPF2 NM_006268.4(DPF2): c.827G> T (p.Cys276Phe) single nucleotide variant Pathogenic rs1555031372 GRCh37 Chromosome 11, 65113452: 65113452
3 DPF2 NM_006268.4(DPF2): c.990C> G (p.Cys330Trp) single nucleotide variant Pathogenic rs1555031500 GRCh38 Chromosome 11, 65346332: 65346332
4 DPF2 NM_006268.4(DPF2): c.990C> G (p.Cys330Trp) single nucleotide variant Pathogenic rs1555031500 GRCh37 Chromosome 11, 65113803: 65113803
5 DPF2 NM_006268.4(DPF2): c.1049G> A (p.Arg350His) single nucleotide variant Pathogenic rs1555032051 GRCh37 Chromosome 11, 65116352: 65116352
6 DPF2 NM_006268.4(DPF2): c.1049G> A (p.Arg350His) single nucleotide variant Pathogenic rs1555032051 GRCh38 Chromosome 11, 65348881: 65348881
7 DPF2 NM_006268.4(DPF2): c.1037A> G (p.Asp346Gly) single nucleotide variant Pathogenic rs1555032044 GRCh37 Chromosome 11, 65116340: 65116340
8 DPF2 NM_006268.4(DPF2): c.1037A> G (p.Asp346Gly) single nucleotide variant Pathogenic rs1555032044 GRCh38 Chromosome 11, 65348869: 65348869
9 DPF2 NM_006268.4(DPF2): c.1099+1G> A single nucleotide variant Pathogenic rs1555032074 GRCh38 Chromosome 11, 65348932: 65348932
10 DPF2 NM_006268.4(DPF2): c.1099+1G> A single nucleotide variant Pathogenic rs1555032074 GRCh37 Chromosome 11, 65116403: 65116403

Expression for Coffin-Siris Syndrome 7

Search GEO for disease gene expression data for Coffin-Siris Syndrome 7.

Pathways for Coffin-Siris Syndrome 7

GO Terms for Coffin-Siris Syndrome 7

Sources for Coffin-Siris Syndrome 7

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10 dbSNP
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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