CSS6
MCID: CFF011
MIFTS: 23

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 : 75 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 frontal bossing

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

Symptoms via clinical synopsis from OMIM:

57
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

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

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

Publications for Coffin-Siris Syndrome 6

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_152641.3(ARID2): c.1028T> A (p.Leu343Ter) single nucleotide variant Pathogenic rs796052242 GRCh37 Chromosome 12, 46231108: 46231108
2 ARID2 NM_152641.3(ARID2): c.1028T> A (p.Leu343Ter) single nucleotide variant Pathogenic rs796052242 GRCh38 Chromosome 12, 45837325: 45837325
3 ARID2 NM_152641.3(ARID2): c.2536delG (p.Val846Leufs) deletion Pathogenic rs796052240 GRCh38 Chromosome 12, 45850659: 45850659
4 ARID2 NM_152641.3(ARID2): c.2536delG (p.Val846Leufs) deletion Pathogenic rs796052240 GRCh37 Chromosome 12, 46244442: 46244442
5 ARID2 NM_152641.3(ARID2): c.4318C> T (p.Gln1440Ter) single nucleotide variant Pathogenic rs772995852 GRCh38 Chromosome 12, 45852441: 45852441
6 ARID2 NM_152641.3(ARID2): c.4318C> T (p.Gln1440Ter) single nucleotide variant 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 GRCh37 Chromosome 12, 46245317: 46245318
10 ARID2 NM_152641.3(ARID2): c.3411_3412delAG (p.Gly1139Serfs) deletion Pathogenic GRCh38 Chromosome 12, 45851534: 45851535
11 ARID2 NM_152641.3(ARID2): c.156delC (p.Arg53Glufs) deletion Pathogenic GRCh37 Chromosome 12, 46123890: 46123890
12 ARID2 NM_152641.3(ARID2): c.156delC (p.Arg53Glufs) deletion Pathogenic 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 GRCh38 Chromosome 12, 45850644: 45850644
15 ARID2 NM_152641.3(ARID2): c.2521C> T (p.Gln841Ter) single nucleotide variant Pathogenic 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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