MCID: CFF007
MIFTS: 24

Coffin-Siris Syndrome 2

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

Aliases & Classifications for Coffin-Siris Syndrome 2

MalaCards integrated aliases for Coffin-Siris Syndrome 2:

Name: Coffin-Siris Syndrome 2 57 12 75
Mental Retardation, Autosomal Dominant 14 57 75 29 13 6 73
Mrd14 57 12 75
Css2 57 12 75
Mental Retardation, Autosomal Dominant 14; Mrd14 57
Autosomal Dominant Mental Retardation 14 12
Coffin-Siris Syndrome, Type 2 ) 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
coffin-siris syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Coffin-Siris Syndrome 2

OMIM : 57 Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with ARID1A mutations have a wide spectrum of manifestations, from severe intellectual disability and serious internal complications that could result in early death to mild intellectual disability (summary by Kosho et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900). (614607)

MalaCards based summary : Coffin-Siris Syndrome 2, is also known as mental retardation, autosomal dominant 14. An important gene associated with Coffin-Siris Syndrome 2 is ARID1A (AT-Rich Interaction Domain 1A). Affiliated tissues include heart and bone, and related phenotypes are wide mouth and macroglossia

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ARID1A on chromosome 1p36.11.

UniProtKB/Swiss-Prot : 75 Coffin-Siris syndrome 2: 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.

Related Diseases for Coffin-Siris Syndrome 2

Symptoms & Phenotypes for Coffin-Siris Syndrome 2

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
macroglossia
large mouth
thin upper vermilion
thick lower vermilion

Skeletal Hands:
brachydactyly
hypoplastic to absent terminal phalanges (especially fifth finger)

Head And Neck Nose:
anteverted nostrils
broad nose
flat nasal bridge

Neurologic Central Nervous System:
hypotonia
mental retardation
delayed psychomotor development
seizures (in some patients)
speech delay
more
Head And Neck Face:
coarse facies

Head And Neck Ears:
malformed ears

Head And Neck Teeth:
delayed dentition

Skeletal Feet:
hypoplastic to absent terminal phalanges (especially fifth toe)

Head And Neck Eyes:
visual impairment
long eyelashes
thick eyebrows

Skin Nails Hair Hair:
sparse scalp hair
hypertrichosis
low frontal hairline

Skin Nails Hair Nails:
hypoplastic nails

Skeletal:
delayed bone age

Cardiovascular Heart:
congenital heart defects

Growth Height:
short stature (in some patients)

Abdomen Gastrointestinal:
feeding problems


Clinical features from OMIM:

614607

Human phenotypes related to Coffin-Siris Syndrome 2:

32 (show all 30)
# Description HPO Frequency HPO Source Accession
1 wide mouth 32 very rare (1%) HP:0000154
2 macroglossia 32 HP:0000158
3 thick lower lip vermilion 32 very rare (1%) HP:0000179
4 coarse facial features 32 very rare (1%) HP:0000280
5 low anterior hairline 32 HP:0000294
6 abnormality of the pinna 32 HP:0000377
7 wide nose 32 HP:0000445
8 anteverted nares 32 HP:0000463
9 visual impairment 32 HP:0000505
10 long eyelashes 32 very rare (1%) HP:0000527
11 thick eyebrow 32 HP:0000574
12 delayed speech and language development 32 HP:0000750
13 hypertrichosis 32 HP:0000998
14 brachydactyly 32 HP:0001156
15 intellectual disability 32 HP:0001249
16 seizures 32 occasional (7.5%) HP:0001250
17 global developmental delay 32 HP:0001263
18 abnormality of the corpus callosum 32 very rare (1%) HP:0001273
19 generalized hypotonia 32 HP:0001290
20 small nail 32 HP:0001792
21 sparse scalp hair 32 very rare (1%) HP:0002209
22 recurrent infections 32 very rare (1%) HP:0002719
23 delayed skeletal maturation 32 HP:0002750
24 short stature 32 occasional (7.5%) HP:0004322
25 depressed nasal bridge 32 HP:0005280
26 aplasia/hypoplasia of the distal phalanges of the hand 32 HP:0009835
27 feeding difficulties 32 very rare (1%) HP:0011968
28 abnormality of cardiovascular system morphology 32 HP:0030680
29 absent fifth fingernail 32 very rare (1%) HP:0200104
30 absent fifth toenail 32 very rare (1%) HP:0200105

Drugs & Therapeutics for Coffin-Siris Syndrome 2

Search Clinical Trials , NIH Clinical Center for Coffin-Siris Syndrome 2

Genetic Tests for Coffin-Siris Syndrome 2

Genetic tests related to Coffin-Siris Syndrome 2:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 14 29 ARID1A

Anatomical Context for Coffin-Siris Syndrome 2

MalaCards organs/tissues related to Coffin-Siris Syndrome 2:

41
Heart, Bone

Publications for Coffin-Siris Syndrome 2

Variations for Coffin-Siris Syndrome 2

ClinVar genetic disease variations for Coffin-Siris Syndrome 2:

6
(show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 ARID1A NM_006015.4(ARID1A): c.31_56del26 (p.Ser11Alafs) deletion Pathogenic rs797045262 GRCh38 Chromosome 1, 26696434: 26696459
2 ARID1A NM_006015.4(ARID1A): c.31_56del26 (p.Ser11Alafs) deletion Pathogenic rs797045262 GRCh37 Chromosome 1, 27022925: 27022950
3 ARID1A NM_006015.4(ARID1A): c.2758C> T (p.Gln920Ter) single nucleotide variant Pathogenic rs387906845 GRCh37 Chromosome 1, 27092737: 27092737
4 ARID1A NM_006015.4(ARID1A): c.2758C> T (p.Gln920Ter) single nucleotide variant Pathogenic rs387906845 GRCh38 Chromosome 1, 26766246: 26766246
5 ARID1A NM_006015.4(ARID1A): c.4003C> T (p.Arg1335Ter) single nucleotide variant Pathogenic rs387906846 GRCh37 Chromosome 1, 27100207: 27100207
6 ARID1A NM_006015.4(ARID1A): c.4003C> T (p.Arg1335Ter) single nucleotide variant Pathogenic rs387906846 GRCh38 Chromosome 1, 26773716: 26773716
7 ARID1A NM_006015.4(ARID1A): c.394delG (p.Val132Trpfs) deletion Pathogenic rs797045263 GRCh38 Chromosome 1, 26696797: 26696797
8 ARID1A NM_006015.4(ARID1A): c.394delG (p.Val132Trpfs) deletion Pathogenic rs797045263 GRCh37 Chromosome 1, 27023288: 27023288
9 ARID1A NM_006015.4(ARID1A): c.5138T> C (p.Leu1713Pro) single nucleotide variant Likely pathogenic rs797045264 GRCh38 Chromosome 1, 26779036: 26779036
10 ARID1A NM_006015.4(ARID1A): c.5138T> C (p.Leu1713Pro) single nucleotide variant Likely pathogenic rs797045264 GRCh37 Chromosome 1, 27105527: 27105527
11 ARID1A NM_006015.4(ARID1A): c.5965C> T (p.Arg1989Ter) single nucleotide variant Pathogenic rs879255270 GRCh38 Chromosome 1, 26779863: 26779863
12 ARID1A NM_006015.4(ARID1A): c.5965C> T (p.Arg1989Ter) single nucleotide variant Pathogenic rs879255270 GRCh37 Chromosome 1, 27106354: 27106354
13 ARID1A NM_006015.4(ARID1A): c.1113delG (p.Gln372Serfs) deletion Pathogenic rs875989848 GRCh38 Chromosome 1, 26697516: 26697516
14 ARID1A NM_006015.4(ARID1A): c.1113delG (p.Gln372Serfs) deletion Pathogenic rs875989848 GRCh37 Chromosome 1, 27024007: 27024007
15 ARID1A NM_006015.4(ARID1A): c.3679G> T (p.Glu1227Ter) single nucleotide variant Pathogenic rs875989849 GRCh37 Chromosome 1, 27099442: 27099442
16 ARID1A NM_006015.4(ARID1A): c.3679G> T (p.Glu1227Ter) single nucleotide variant Pathogenic rs875989849 GRCh38 Chromosome 1, 26772951: 26772951
17 ARID1A NM_006015.5(ARID1A): c.3999_4001dup (p.Gln1334_Arg1335insGln) duplication Likely benign rs570962335 GRCh38 Chromosome 1, 26773712: 26773714
18 ARID1A NM_006015.5(ARID1A): c.3999_4001dup (p.Gln1334_Arg1335insGln) duplication Likely benign rs570962335 GRCh37 Chromosome 1, 27100203: 27100205
19 ARID1A NM_006015.5(ARID1A): c.921_940del20 (p.Tyr308Argfs) deletion Pathogenic GRCh38 Chromosome 1, 26697324: 26697343
20 ARID1A NM_006015.5(ARID1A): c.921_940del20 (p.Tyr308Argfs) deletion Pathogenic GRCh37 Chromosome 1, 27023815: 27023834
21 ARID1A NM_006015.5(ARID1A): c.5164C> T (p.Arg1722Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 26779062: 26779062
22 ARID1A NM_006015.5(ARID1A): c.5164C> T (p.Arg1722Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 27105553: 27105553
23 ARID1A NM_006015.5(ARID1A): c.3702C> T (p.Gly1234=) single nucleotide variant Likely benign rs376672377 GRCh38 Chromosome 1, 26772974: 26772974
24 ARID1A NM_006015.5(ARID1A): c.3702C> T (p.Gly1234=) single nucleotide variant Likely benign rs376672377 GRCh37 Chromosome 1, 27099465: 27099465

Expression for Coffin-Siris Syndrome 2

Search GEO for disease gene expression data for Coffin-Siris Syndrome 2.

Pathways for Coffin-Siris Syndrome 2

GO Terms for Coffin-Siris Syndrome 2

Sources for Coffin-Siris Syndrome 2

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