CSS6
MCID: CFF011
MIFTS: 24

Coffin-Siris Syndrome 6 (CSS6)

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

Aliases & Classifications for Coffin-Siris Syndrome 6

Summaries for Coffin-Siris Syndrome 6

UniProtKB/Swiss-Prot : 76 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 related phenotypes are pectus excavatum and global developmental delay

OMIM : 58 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:

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

Symptoms via clinical synopsis from OMIM:

58
Growth Height:
short stature

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 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
retrognathia
short philtrum
large forehead
prominent philtrum
more
Neurologic Behavioral Psychiatric Manifestations:
anxiety
tics
repetitive behaviors
obsessions
adhd
more
Head And Neck Nose:
broad nasal tip
flat nasal bridge
anteverted alae nasi (in some patients)

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 30 ARID2

Anatomical Context for Coffin-Siris Syndrome 6

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

42
Bone

Publications for Coffin-Siris Syndrome 6

Articles related to Coffin-Siris Syndrome 6:

# Title Authors Year
1
Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype. ( 28124119 )
2017
2
Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability. ( 28884947 )
2017
3
Mutations in ARID2 are associated with intellectual disabilities. ( 26238514 )
2015

Variations for Coffin-Siris Syndrome 6

ClinVar genetic disease variations for Coffin-Siris Syndrome 6:

6 (show all 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 ARID2 NM_152641.4(ARID2): c.1028T> A (p.Leu343Ter) single nucleotide variant Likely pathogenic rs796052242 GRCh37 Chromosome 12, 46231108: 46231108
2 ARID2 NM_152641.4(ARID2): c.1028T> A (p.Leu343Ter) single nucleotide variant Likely pathogenic rs796052242 GRCh38 Chromosome 12, 45837325: 45837325
3 ARID2 NM_152641.2(ARID2): c.2536delG (p.Val846Leufs) deletion Pathogenic rs796052240 GRCh38 Chromosome 12, 45850659: 45850659
4 ARID2 NM_152641.2(ARID2): c.2536delG (p.Val846Leufs) deletion Pathogenic rs796052240 GRCh37 Chromosome 12, 46244442: 46244442
5 ARID2 NM_152641.4(ARID2): c.4318C> T (p.Gln1440Ter) single nucleotide variant Likely pathogenic rs772995852 GRCh38 Chromosome 12, 45852441: 45852441
6 ARID2 NM_152641.4(ARID2): c.4318C> T (p.Gln1440Ter) single nucleotide variant Likely pathogenic rs772995852 GRCh37 Chromosome 12, 46246224: 46246224
7 ARID2 NM_152641.3(ARID2): c.4441delC (p.His1481Ilefs) deletion Pathogenic rs796052241 GRCh37 Chromosome 12, 46246347: 46246347
8 ARID2 NM_152641.3(ARID2): c.4441delC (p.His1481Ilefs) deletion Pathogenic rs796052241 GRCh38 Chromosome 12, 45852564: 45852564
9 ARID2 NM_152641.3(ARID2): c.3411_3412delAG (p.Gly1139Serfs) deletion Pathogenic rs1555155252 GRCh37 Chromosome 12, 46245317: 46245318
10 ARID2 NM_152641.3(ARID2): c.3411_3412delAG (p.Gly1139Serfs) deletion Pathogenic rs1555155252 GRCh38 Chromosome 12, 45851534: 45851535
11 ARID2 NM_152641.3(ARID2): c.156delC (p.Arg53Glufs) deletion Pathogenic rs1555139310 GRCh37 Chromosome 12, 46123890: 46123890
12 ARID2 NM_152641.3(ARID2): c.156delC (p.Arg53Glufs) deletion Pathogenic rs1555139310 GRCh38 Chromosome 12, 45730107: 45730107
13 ARID2 ARID2, 105-KB DEL, EX3-5DEL deletion Pathogenic
14 ARID2 NM_152641.3(ARID2): c.2521C> T (p.Gln841Ter) single nucleotide variant Pathogenic rs1555154946 GRCh38 Chromosome 12, 45850644: 45850644
15 ARID2 NM_152641.3(ARID2): c.2521C> T (p.Gln841Ter) single nucleotide variant Pathogenic rs1555154946 GRCh37 Chromosome 12, 46244427: 46244427

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

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