MCID: CFF011
MIFTS: 22

Coffin-Siris Syndrome 6

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

Aliases & Classifications for Coffin-Siris Syndrome 6

MalaCards integrated aliases for Coffin-Siris Syndrome 6:

Name: Coffin-Siris Syndrome 6 57 12 75 29 6
Css6 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
coffin-siris syndrome 6:
Inheritance autosomal dominant inheritance


Classifications:



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 cleft palate and retrognathia

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 26)
# Description HPO Frequency HPO Source Accession
1 cleft palate 32 very rare (1%) HP:0000175
2 retrognathia 32 HP:0000278
3 epicanthus 32 HP:0000286
4 micrognathia 32 very rare (1%) HP:0000347
5 low-set, posteriorly rotated ears 32 HP:0000368
6 conductive hearing impairment 32 very rare (1%) HP:0000405
7 downslanted palpebral fissures 32 HP:0000494
8 stereotypy 32 HP:0000733
9 anxiety 32 HP:0000739
10 pectus excavatum 32 very rare (1%) HP:0000767
11 global developmental delay 32 very rare (1%) HP:0001263
12 plagiocephaly 32 very rare (1%) HP:0001357
13 atrial septal defect 32 very rare (1%) HP:0001631
14 abnormal facial shape 32 HP:0001999
15 frontal bossing 32 HP:0002007
16 constipation 32 HP:0002019
17 gastroesophageal reflux 32 HP:0002020
18 wormian bones 32 very rare (1%) HP:0002645
19 high, narrow palate 32 HP:0002705
20 kyphoscoliosis 32 very rare (1%) HP:0002751
21 short stature 32 very rare (1%) HP:0004322
22 periventricular leukomalacia 32 very rare (1%) HP:0006970
23 attention deficit hyperactivity disorder 32 HP:0007018
24 diaphragmatic eventration 32 very rare (1%) HP:0009110
25 tics 32 HP:0100033
26 arachnoid cyst 32 very rare (1%) HP:0100702

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

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 13)
# 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

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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10 dbSNP
11 DGIdb
17 ExPASy
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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