CSS6
MCID: CFF011
MIFTS: 27

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

Summaries for Coffin-Siris Syndrome 6

UniProtKB/Swiss-Prot : 73 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, lung and eye, and related phenotypes are pectus excavatum and global developmental delay

OMIM : 56 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:

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

Symptoms via clinical synopsis from OMIM:

56
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:

40
Bone, Lung, Eye

Publications for Coffin-Siris Syndrome 6

Articles related to Coffin-Siris Syndrome 6:

(showing 4, show less)
# Title Authors PMID Year
1
Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability. 56 6
28884947 2017
2
Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype. 56 6
28124119 2017
3
Mutations in ARID2 are associated with intellectual disabilities. 56 6
26238514 2015
4
Epistatic interactions govern chemically-induced lung tumor susceptibility and Kras mutation site in murine C57BL/6J-ChrA/J chromosome substitution strains. 61
19609923 2010

Variations for Coffin-Siris Syndrome 6

ClinVar genetic disease variations for Coffin-Siris Syndrome 6:

6 (showing 11, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ARID2 NM_152641.4(ARID2):c.4441del (p.His1481fs)deletion Pathogenic 448917 rs796052241 12:46246347-46246347 12:45852564-45852564
2 ARID2 NM_152641.4(ARID2):c.3411_3412del (p.Gly1139fs)deletion Pathogenic 448919 rs1555155252 12:46245317-46245318 12:45851534-45851535
3 ARID2 NM_152641.4(ARID2):c.156del (p.Arg53fs)deletion Pathogenic 448920 rs1555139310 12:46123889-46123889 12:45730106-45730106
4 ARID2 ARID2, 105-KB DEL, EX3-5DELdeletion Pathogenic 448921
5 ARID2 NM_152641.4(ARID2):c.2521C>T (p.Gln841Ter)SNV Pathogenic 545705 rs1555154946 12:46244427-46244427 12:45850644-45850644
6 ARID2 NM_152641.4(ARID2):c.2536del (p.Val846fs)deletion Pathogenic 207823 rs796052240 12:46244442-46244442 12:45850659-45850659
7 ARID2 NM_152641.4(ARID2):c.5346T>G (p.Tyr1782Ter)SNV Pathogenic 802839 12:46287487-46287487 12:45893704-45893704
8 ARID2 NM_152641.4(ARID2):c.2114del (p.Ser705fs)deletion Pathogenic 807541 12:46244020-46244020 12:45850237-45850237
9 ARID2 NM_152641.4(ARID2):c.4318C>T (p.Gln1440Ter)SNV Likely pathogenic 448918 rs772995852 12:46246224-46246224 12:45852441-45852441
10 ARID2 NM_152641.4(ARID2):c.1028T>A (p.Leu343Ter)SNV Likely pathogenic 448916 rs796052242 12:46231108-46231108 12:45837325-45837325
11 ARID2 NM_152641.4(ARID2):c.5008G>A (p.Glu1670Lys)SNV Uncertain significance 802838 12:46285648-46285648 12:45891865-45891865

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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72 UMLS via Orphanet
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