CSS6
MCID: CFF011
MIFTS: 25

Coffin-Siris Syndrome 6 (CSS6)

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

Aliases & Classifications for Coffin-Siris Syndrome 6

MalaCards integrated aliases for Coffin-Siris Syndrome 6:

Name: Coffin-Siris Syndrome 6 57 12 74 29 6
Css6 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
coffin-siris syndrome 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080297

Summaries for Coffin-Siris Syndrome 6

UniProtKB/Swiss-Prot : 74 Coffin-Siris syndrome 6: 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. CSS6 inheritance is autosomal dominant.

MalaCards based summary : Coffin-Siris Syndrome 6, is also known as css6. An important gene associated with Coffin-Siris Syndrome 6 is ARID2 (AT-Rich Interaction Domain 2). Affiliated tissues include bone and lung, and related phenotypes are pectus excavatum and global developmental delay

OMIM : 57 Coffin-Siris syndrome-6 is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies. Some patients have fifth digit clinodactyly with small nails. Other congenital anomalies and seizures may be present. This description is based on reports of 7 unrelated patients (Shang et al., 2015; Van Paemel et al., 2017; Bramswig et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900). (617808)

Related Diseases for Coffin-Siris Syndrome 6

Symptoms & Phenotypes for Coffin-Siris Syndrome 6

Human phenotypes related to Coffin-Siris Syndrome 6:

32 (show all 40)
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 32 very rare (1%) HP:0000767
2 global developmental delay 32 very rare (1%) HP:0001263
3 short stature 32 very rare (1%) HP:0004322
4 cleft palate 32 very rare (1%) HP:0000175
5 micrognathia 32 very rare (1%) HP:0000347
6 wormian bones 32 very rare (1%) HP:0002645
7 atrial septal defect 32 very rare (1%) HP:0001631
8 kyphoscoliosis 32 very rare (1%) HP:0002751
9 conductive hearing impairment 32 very rare (1%) HP:0000405
10 plagiocephaly 32 very rare (1%) HP:0001357
11 arachnoid cyst 32 very rare (1%) HP:0100702
12 periventricular leukomalacia 32 very rare (1%) HP:0006970
13 diaphragmatic eventration 32 very rare (1%) HP:0009110
14 frontal bossing 32 HP:0002007
15 clinodactyly 32 HP:0030084
16 intellectual disability 32 HP:0001249
17 constipation 32 HP:0002019
18 coarse facial features 32 HP:0000280
19 depressed nasal bridge 32 HP:0005280
20 delayed speech and language development 32 HP:0000750
21 abnormal facial shape 32 HP:0001999
22 gastroesophageal reflux 32 HP:0002020
23 stereotypy 32 HP:0000733
24 short philtrum 32 HP:0000322
25 broad nasal tip 32 HP:0000455
26 generalized hypotonia 32 HP:0001290
27 high, narrow palate 32 HP:0002705
28 retrognathia 32 HP:0000278
29 epicanthus 32 HP:0000286
30 attention deficit hyperactivity disorder 32 HP:0007018
31 anxiety 32 HP:0000739
32 motor delay 32 HP:0001270
33 low-set, posteriorly rotated ears 32 HP:0000368
34 brachydactyly 32 HP:0001156
35 downslanted palpebral fissures 32 HP:0000494
36 deep philtrum 32 HP:0002002
37 large forehead 32 HP:0002003
38 high forehead 32 HP:0000348
39 narrow palpebral fissure 32 HP:0045025
40 tics 32 HP:0100033

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Head And Neck Nose:
broad nasal tip
flat nasal bridge
anteverted alae nasi (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
anxiety
tics
repetitive behaviors
obsessions
adhd
more
Head And Neck Eyes:
downslanting palpebral fissures
epicanthal folds
narrow palpebral fissures

Head And Neck Teeth:
delayed dentition

Skeletal Hands:
clinodactyly (5th finger)
brachydactyly (5th finger)
brachymesophalangia (5th finger)

Head And Neck Face:
micrognathia
short philtrum
retrognathia
large forehead
prominent philtrum
more
Skeletal Skull:
wormian bones
plagiocephaly (in some patients)

Neurologic Central Nervous System:
neurodevelopmental delay
hypotonia
speech delay
cognitive delay
fine motor delay
more
Head And Neck Mouth:
high-arched palate
thin upper vermillion
thick lower vermillion

Head And Neck Ears:
low set ears

Skin Nails Hair Nails:
hypoplastic 5th fingernail
hypoplastic 5th toenail

Clinical features from OMIM:

617808

Drugs & Therapeutics for Coffin-Siris Syndrome 6

Search Clinical Trials , NIH Clinical Center for Coffin-Siris Syndrome 6

Genetic Tests for Coffin-Siris Syndrome 6

Genetic tests related to Coffin-Siris Syndrome 6:

# Genetic test Affiliating Genes
1 Coffin-Siris Syndrome 6 29 ARID2

Anatomical Context for Coffin-Siris Syndrome 6

MalaCards organs/tissues related to Coffin-Siris Syndrome 6:

41
Bone, Lung

Publications for Coffin-Siris Syndrome 6

Articles related to Coffin-Siris Syndrome 6:

# Title Authors PMID Year
1
Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability. 8 71
28884947 2017
2
Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype. 8 71
28124119 2017
3
Mutations in ARID2 are associated with intellectual disabilities. 8 71
26238514 2015
4
Epistatic interactions govern chemically-induced lung tumor susceptibility and Kras mutation site in murine C57BL/6J-ChrA/J chromosome substitution strains. 38
19609923 2010

Variations for Coffin-Siris Syndrome 6

ClinVar genetic disease variations for Coffin-Siris Syndrome 6:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ARID2 NM_152641.4(ARID2): c.3411_3412del (p.Gly1139fs) deletion Pathogenic rs1555155252 12:46245317-46245318 12:45851534-45851535
2 ARID2 NM_152641.4(ARID2): c.156del (p.Arg53fs) deletion Pathogenic rs1555139310 12:46123890-46123890 12:45730107-45730107
3 ARID2 ARID2, 105-KB DEL, EX3-5DEL deletion Pathogenic
4 ARID2 NM_152641.4(ARID2): c.2521C> T (p.Gln841Ter) single nucleotide variant Pathogenic rs1555154946 12:46244427-46244427 12:45850644-45850644
5 ARID2 NM_152641.4(ARID2): c.2536del (p.Val846fs) deletion Pathogenic rs796052240 12:46244442-46244442 12:45850659-45850659
6 ARID2 NM_152641.4(ARID2): c.4441del (p.His1481fs) deletion Pathogenic rs796052241 12:46246347-46246347 12:45852564-45852564
7 ARID2 NM_152641.4(ARID2): c.4318C> T (p.Gln1440Ter) single nucleotide variant Likely pathogenic rs772995852 12:46246224-46246224 12:45852441-45852441
8 ARID2 NM_152641.4(ARID2): c.1028T> A (p.Leu343Ter) single nucleotide variant Likely pathogenic rs796052242 12:46231108-46231108 12:45837325-45837325

Expression for Coffin-Siris Syndrome 6

Search GEO for disease gene expression data for Coffin-Siris Syndrome 6.

Pathways for Coffin-Siris Syndrome 6

GO Terms for Coffin-Siris Syndrome 6

Sources for Coffin-Siris Syndrome 6

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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