CSS7
MCID: CFF012
MIFTS: 23

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:



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 and bone, and related phenotypes are hypertelorism and low-set ears

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

Human phenotypes related to Coffin-Siris Syndrome 7:

33 (show all 32)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 HP:0000316
2 low-set ears 33 HP:0000369
3 clinodactyly 33 HP:0030084
4 intellectual disability 33 HP:0001249
5 constipation 33 HP:0002019
6 coarse facial features 33 HP:0000280
7 hearing impairment 33 HP:0000365
8 macrotia 33 HP:0000400
9 global developmental delay 33 HP:0001263
10 depressed nasal bridge 33 HP:0005280
11 delayed speech and language development 33 HP:0000750
12 thick eyebrow 33 HP:0000574
13 prominent forehead 33 HP:0011220
14 feeding difficulties 33 HP:0011968
15 strabismus 33 HP:0000486
16 microdontia 33 HP:0000691
17 recurrent otitis media 33 HP:0000403
18 wide mouth 33 HP:0000154
19 short philtrum 33 HP:0000322
20 trigonocephaly 33 HP:0000243
21 downslanted palpebral fissures 33 HP:0000494
22 brachydactyly 33 HP:0001156
23 thin upper lip vermilion 33 HP:0000219
24 obsessive-compulsive behavior 33 HP:0000722
25 broad philtrum 33 HP:0000289
26 hypoplastic fifth toenail 33 HP:0011937
27 hyperactivity 33 HP:0000752
28 posteriorly rotated ears 33 HP:0000358
29 hypermetropia 33 HP:0000540
30 sagittal craniosynostosis 33 HP:0004442
31 delayed ability to walk 33 HP:0031936
32 abnormal cardiac septum morphology 33 HP:0001671

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, Bone

Publications for Coffin-Siris Syndrome 7

Articles related to Coffin-Siris Syndrome 7:

# Title Authors Year
1
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. ( 29429572 )
2018

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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63 PubMed
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70 SNOMED-CT via HPO
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73 Tocris
74 UMLS
75 UMLS via Orphanet
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