CSS7
MCID: CFF012
MIFTS: 26

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 56 73 29 6
Css7 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
de novo mutation


HPO:

31
coffin-siris syndrome 7:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Coffin-Siris Syndrome 7

UniProtKB/Swiss-Prot : 73 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, also known as css7, is related to coffin-siris syndrome 1. An important gene associated with Coffin-Siris Syndrome 7 is DPF2 (Double PHD Fingers 2). Affiliated tissues include heart, eye and bone, and related phenotypes are hypertelorism and low-set ears

OMIM : 56 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

Diseases in the Coffin-Siris Syndrome 1 family:

Coffin-Siris Syndrome 2 Coffin-Siris Syndrome 3
Coffin-Siris Syndrome 4 Coffin-Siris Syndrome 9
Coffin-Siris Syndrome 5 Coffin-Siris Syndrome 6
Coffin-Siris Syndrome 7 Coffin-Siris Syndrome 8
Coffin-Siris Syndrome 10

Diseases related to Coffin-Siris Syndrome 7 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 coffin-siris syndrome 1 10.3

Symptoms & Phenotypes for Coffin-Siris Syndrome 7

Human phenotypes related to Coffin-Siris Syndrome 7:

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

Symptoms via clinical synopsis from OMIM:

56
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)

Skeletal Hands:
brachydactyly
clinodactyly (fifth finger)

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 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

Growth Height:
short stature

Head And Neck Teeth:
microdontia
delayed dentition

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:

40
Heart, Eye, Bone

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. 56 6
29429572 2018
2
A new missense mutation in DPF2 gene related to Coffin Siris syndrome 7: Description of a mild phenotype expanding DPF2-related clinical spectrum and differential diagnosis among similar syndromes epigenetically determined. 61
31706665 2020

Variations for Coffin-Siris Syndrome 7

ClinVar genetic disease variations for Coffin-Siris Syndrome 7:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DPF2 NM_006268.5(DPF2):c.827G>T (p.Cys276Phe)SNV Pathogenic 438643 rs1555031372 11:65113452-65113452 11:65345981-65345981
2 DPF2 NM_006268.5(DPF2):c.990C>G (p.Cys330Trp)SNV Pathogenic 545683 rs1555031500 11:65113803-65113803 11:65346332-65346332
3 DPF2 NM_006268.5(DPF2):c.1049G>A (p.Arg350His)SNV Pathogenic 545684 rs1555032051 11:65116352-65116352 11:65348881-65348881
4 DPF2 NM_006268.5(DPF2):c.1037A>G (p.Asp346Gly)SNV Pathogenic 545685 rs1555032044 11:65116340-65116340 11:65348869-65348869
5 DPF2 NM_006268.5(DPF2):c.1099+1G>ASNV Pathogenic 545686 rs1555032074 11:65116403-65116403 11:65348932-65348932

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

73
# 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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