CSS7
MCID: CFF012
MIFTS: 22

Coffin-Siris Syndrome 7 (CSS7)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Coffin-Siris Syndrome 7

MalaCards integrated aliases for Coffin-Siris Syndrome 7:

Name: Coffin-Siris Syndrome 7 57 74 29 6
Css7 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
de novo mutation


HPO:

32
coffin-siris syndrome 7:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Summaries for Coffin-Siris Syndrome 7

UniProtKB/Swiss-Prot : 74 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 related phenotypes are hypertelorism and low-set ears

OMIM : 57 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:

32 (show all 35)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 clinodactyly 32 HP:0030084
4 intellectual disability 32 HP:0001249
5 constipation 32 HP:0002019
6 coarse facial features 32 HP:0000280
7 hearing impairment 32 HP:0000365
8 macrotia 32 HP:0000400
9 global developmental delay 32 HP:0001263
10 depressed nasal bridge 32 HP:0005280
11 delayed speech and language development 32 HP:0000750
12 thick eyebrow 32 HP:0000574
13 short stature 32 HP:0004322
14 prominent forehead 32 HP:0011220
15 broad philtrum 32 HP:0000289
16 short philtrum 32 HP:0000322
17 hyperactivity 32 HP:0000752
18 generalized hypotonia 32 HP:0001290
19 feeding difficulties 32 HP:0011968
20 strabismus 32 HP:0000486
21 microdontia 32 HP:0000691
22 recurrent otitis media 32 HP:0000403
23 wide mouth 32 HP:0000154
24 trigonocephaly 32 HP:0000243
25 obsessive-compulsive behavior 32 HP:0000722
26 brachydactyly 32 HP:0001156
27 downslanted palpebral fissures 32 HP:0000494
28 thin upper lip vermilion 32 HP:0000219
29 sparse scalp hair 32 HP:0002209
30 hypoplastic fifth toenail 32 HP:0011937
31 posteriorly rotated ears 32 HP:0000358
32 hypermetropia 32 HP:0000540
33 sagittal craniosynostosis 32 HP:0004442
34 delayed ability to walk 32 HP:0031936
35 abnormal cardiac septum morphology 32 HP:0001671

Symptoms via clinical synopsis from OMIM:

57
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 Teeth:
microdontia
delayed dentition

Skeletal Hands:
brachydactyly
clinodactyly (fifth finger)

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

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
broad philtrum
short philtrum

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

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

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

Skin Nails Hair Hair:
sparse scalp hair

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 29 DPF2

Anatomical Context for Coffin-Siris Syndrome 7

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

41
Heart

Publications for Coffin-Siris Syndrome 7

Articles related to Coffin-Siris Syndrome 7:

# Title Authors PMID Year
1
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. 8 71
29429572 2018

Variations for Coffin-Siris Syndrome 7

ClinVar genetic disease variations for Coffin-Siris Syndrome 7:

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

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

74
# Symbol AA change Variation ID SNP ID
1 DPF2 p.Cys276Phe VAR_081047 rs155503137
2 DPF2 p.Cys330Trp VAR_081048 rs155503150
3 DPF2 p.Asp346Gly VAR_081049 rs155503204
4 DPF2 p.Arg350His VAR_081050 rs155503205
5 DPF2 p.Trp369Arg VAR_081051

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
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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