MCID: CFF010
MIFTS: 25

Coffin-Siris Syndrome 3

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

Aliases & Classifications for Coffin-Siris Syndrome 3

MalaCards integrated aliases for Coffin-Siris Syndrome 3:

Name: Coffin-Siris Syndrome 3 57 12 75
Mental Retardation, Autosomal Dominant 15 57 75 29 13 6 73
Mrd15 57 12 75
Css3 57 12 75
Mental Retardation, Autosomal Dominant 15; Mrd15 57
Autosomal Dominant Mental Retardation 15 12
Coffin-Siris Syndrome, Type 3 ) 40
Coffin-Siris Syndrome, Type 3 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
coffin-siris syndrome 3:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Coffin-Siris Syndrome 3

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 SMARCB1 mutations may have more severe neurodevelopmental deficits including severe intellectual disability, brain structural abnormalities, and no expressive words, as well as scoliosis (summary by Kosho et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900). (614608)

MalaCards based summary : Coffin-Siris Syndrome 3, is also known as mental retardation, autosomal dominant 15, and has symptoms including seizures An important gene associated with Coffin-Siris Syndrome 3 is SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1). Affiliated tissues include brain, bone and heart, and related phenotypes are intellectual disability and seizures

UniProtKB/Swiss-Prot : 75 Coffin-Siris syndrome 3: 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.

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of SMARCB1 on chromosome 22q11.23.

Related Diseases for Coffin-Siris Syndrome 3

Symptoms & Phenotypes for Coffin-Siris Syndrome 3

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
hypotonia
mental retardation
delayed psychomotor development, severe
small cerebellum
more
Head And Neck Mouth:
macroglossia
large mouth
thin upper vermilion
thick lower vermilion

Head And Neck Head:
microcephaly

Growth Height:
short stature

Skin Nails Hair Hair:
sparse scalp hair
hypertrichosis

Skeletal:
delayed bone age

Cardiovascular Heart:
congenital heart defects

Abdomen Gastrointestinal:
feeding problems

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

Skeletal Spine:
scoliosis

Head And Neck Ears:
hearing impairment

Head And Neck Eyes:
visual impairment
long eyelashes
thick eyebrows

Growth Other:
intrauterine growth retardation
poor overall growth

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

Head And Neck Face:
coarse facies

Head And Neck Teeth:
delayed dentition

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

Skin Nails Hair Nails:
hypoplastic or absent nails


Clinical features from OMIM:

614608

Human phenotypes related to Coffin-Siris Syndrome 3:

32 (show all 28)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 very rare (1%) HP:0001250
3 scoliosis 32 HP:0002650
4 macroglossia 32 HP:0000158
5 coarse facial features 32 HP:0000280
6 hearing impairment 32 HP:0000365
7 global developmental delay 32 HP:0001263
8 delayed skeletal maturation 32 HP:0002750
9 depressed nasal bridge 32 HP:0005280
10 microcephaly 32 very rare (1%) HP:0000252
11 anteverted nares 32 HP:0000463
12 visual impairment 32 HP:0000505
13 thick eyebrow 32 HP:0000574
14 short stature 32 HP:0004322
15 feeding difficulties 32 HP:0011968
16 intrauterine growth retardation 32 HP:0001511
17 cerebellar hypoplasia 32 very rare (1%) HP:0001321
18 wide mouth 32 HP:0000154
19 sparse scalp hair 32 HP:0002209
20 long eyelashes 32 HP:0000527
21 wide nose 32 HP:0000445
22 abnormality of cardiovascular system morphology 32 HP:0030680
23 generalized hypotonia 32 HP:0001290
24 hirsutism 32 very rare (1%) HP:0001007
25 hypertrichosis 32 HP:0000998
26 abnormality of the corpus callosum 32 HP:0001273
27 delayed eruption of permanent teeth 32 HP:0000696
28 aplasia/hypoplasia of the distal phalanges of the hand 32 HP:0009835

UMLS symptoms related to Coffin-Siris Syndrome 3:


seizures

Drugs & Therapeutics for Coffin-Siris Syndrome 3

Search Clinical Trials , NIH Clinical Center for Coffin-Siris Syndrome 3

Genetic Tests for Coffin-Siris Syndrome 3

Genetic tests related to Coffin-Siris Syndrome 3:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 15 29 SMARCB1

Anatomical Context for Coffin-Siris Syndrome 3

MalaCards organs/tissues related to Coffin-Siris Syndrome 3:

41
Brain, Bone, Heart, Cerebellum

Publications for Coffin-Siris Syndrome 3

Variations for Coffin-Siris Syndrome 3

UniProtKB/Swiss-Prot genetic disease variations for Coffin-Siris Syndrome 3:

75
# Symbol AA change Variation ID SNP ID
1 SMARCB1 p.Arg377His VAR_068179 rs387906812
2 SMARCB1 p.Arg366Cys VAR_076934 rs886039520
3 SMARCB1 p.Arg374Gln VAR_076935 rs1057517825Coffin-Siris

ClinVar genetic disease variations for Coffin-Siris Syndrome 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SMARCB1 NM_003073.4(SMARCB1): c.1091_1093delAGA (p.Lys364del) deletion Pathogenic/Likely pathogenic rs875989800 GRCh38 Chromosome 22, 23833676: 23833678
2 SMARCB1 NM_003073.4(SMARCB1): c.1091_1093delAGA (p.Lys364del) deletion Pathogenic/Likely pathogenic rs875989800 GRCh37 Chromosome 22, 24175863: 24175865
3 SMARCB1 NM_003073.4(SMARCB1): c.1130G> A (p.Arg377His) single nucleotide variant Pathogenic rs387906812 GRCh37 Chromosome 22, 24176339: 24176339
4 SMARCB1 NM_003073.4(SMARCB1): c.1130G> A (p.Arg377His) single nucleotide variant Pathogenic rs387906812 GRCh38 Chromosome 22, 23834152: 23834152
5 SMARCB1 NM_003073.4(SMARCB1): c.110G> A (p.Arg37His) single nucleotide variant Pathogenic rs398122368 GRCh37 Chromosome 22, 24133959: 24133959
6 SMARCB1 NM_003073.4(SMARCB1): c.110G> A (p.Arg37His) single nucleotide variant Pathogenic rs398122368 GRCh38 Chromosome 22, 23791772: 23791772
7 SMARCB1 NM_003073.4(SMARCB1): c.1087A> G (p.Lys363Glu) single nucleotide variant Likely pathogenic rs797045989 GRCh38 Chromosome 22, 23833672: 23833672
8 SMARCB1 NM_003073.4(SMARCB1): c.1087A> G (p.Lys363Glu) single nucleotide variant Likely pathogenic rs797045989 GRCh37 Chromosome 22, 24175859: 24175859
9 SMARCB1 NM_003073.4(SMARCB1): c.602G> A (p.Arg201Gln) single nucleotide variant Likely pathogenic GRCh37 Chromosome 22, 24145583: 24145583
10 SMARCB1 NM_003073.4(SMARCB1): c.602G> A (p.Arg201Gln) single nucleotide variant Likely pathogenic GRCh38 Chromosome 22, 23803396: 23803396

Expression for Coffin-Siris Syndrome 3

Search GEO for disease gene expression data for Coffin-Siris Syndrome 3.

Pathways for Coffin-Siris Syndrome 3

GO Terms for Coffin-Siris Syndrome 3

Sources for Coffin-Siris Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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32 HPO
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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