CSS11
MCID: CFF016
MIFTS: 21

Coffin-Siris Syndrome 11 (CSS11)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Coffin-Siris Syndrome 11

MalaCards integrated aliases for Coffin-Siris Syndrome 11:

Name: Coffin-Siris Syndrome 11 56 73 6
Css11 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation
variable and nonspecific facial features
five unrelated patients have been reported (last curated february 2020)


HPO:

31
coffin-siris syndrome 11:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Coffin-Siris Syndrome 11

UniProtKB/Swiss-Prot : 73 Coffin-Siris syndrome 11: 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. CSS11 is an autosomal dominant form characterized by developmental delay, intellectual disability, hypotonia, feeding difficulties, and small hands and feet.

MalaCards based summary : Coffin-Siris Syndrome 11, is also known as css11. An important gene associated with Coffin-Siris Syndrome 11 is SMARCD1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily D, Member 1). Related phenotypes are intellectual disability and global developmental delay

OMIM : 56 Coffin-Siris syndrome-11 (CSS11) is a syndromic neurodevelopmental disorder characterized by global developmental delay and impaired intellectual development associated with hypotonia, feeding difficulties, and variable dysmorphic features. Most patients have distal anomalies, such as small hands and feet and hypoplastic fifth toenails (summary by Nixon et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900). (618779)

Related Diseases for Coffin-Siris Syndrome 11

Symptoms & Phenotypes for Coffin-Siris Syndrome 11

Human phenotypes related to Coffin-Siris Syndrome 11:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 global developmental delay 31 very rare (1%) HP:0001263
3 depressed nasal bridge 31 very rare (1%) HP:0005280
4 hypertelorism 31 very rare (1%) HP:0000316
5 muscular hypotonia 31 very rare (1%) HP:0001252
6 delayed speech and language development 31 very rare (1%) HP:0000750
7 feeding difficulties in infancy 31 very rare (1%) HP:0008872
8 frontal bossing 31 very rare (1%) HP:0002007
9 high palate 31 very rare (1%) HP:0000218
10 low posterior hairline 31 very rare (1%) HP:0002162
11 wide mouth 31 very rare (1%) HP:0000154
12 downturned corners of mouth 31 very rare (1%) HP:0002714
13 bulbous nose 31 very rare (1%) HP:0000414
14 agenesis of corpus callosum 31 very rare (1%) HP:0001274
15 small hand 31 very rare (1%) HP:0200055
16 prominent metopic ridge 31 very rare (1%) HP:0005487
17 bifid uvula 31 very rare (1%) HP:0000193
18 esophageal atresia 31 very rare (1%) HP:0002032
19 uplifted earlobe 31 very rare (1%) HP:0009909
20 narrow forehead 31 very rare (1%) HP:0000341
21 delayed ability to walk 31 very rare (1%) HP:0031936

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
hypotonia
delayed walking
impaired intellectual development
speech and language delay
more
Genitourinary Internal Genitalia Male:
cryptorchidism

Skin Nails Hair Hair:
sparse hair
low hairline

Skeletal Hands:
short fingers
small hands
slender fingers

Head And Neck Face:
dysmorphic facial features (in some patients)

Abdomen Gastrointestinal:
gastroesophageal reflux
feeding difficulties

Head And Neck Ears:
low-set ears
dysplastic ears
abnormal external ears

Muscle Soft Tissue:
hypotonia

Skeletal Feet:
small feet

Skin Nails Hair Nails:
hypoplasia of the fifth toenail

Clinical features from OMIM:

618779

Drugs & Therapeutics for Coffin-Siris Syndrome 11

Search Clinical Trials , NIH Clinical Center for Coffin-Siris Syndrome 11

Genetic Tests for Coffin-Siris Syndrome 11

Anatomical Context for Coffin-Siris Syndrome 11

Publications for Coffin-Siris Syndrome 11

Articles related to Coffin-Siris Syndrome 11:

# Title Authors PMID Year
1
A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies. 6 56
30879640 2019
2
Dusp3 and Psme3 are associated with murine susceptibility to Staphylococcus aureus infection and human sepsis. 61
24901344 2014

Variations for Coffin-Siris Syndrome 11

ClinVar genetic disease variations for Coffin-Siris Syndrome 11:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SMARCD1 NM_003076.5(SMARCD1):c.990C>G (p.Asp330Glu)SNV Pathogenic 812679 12:50484140-50484140 12:50090357-50090357
2 SMARCD1 NM_003076.5(SMARCD1):c.1336A>G (p.Arg446Gly)SNV Pathogenic 812680 12:50490699-50490699 12:50096916-50096916
3 SMARCD1 NM_003076.5(SMARCD1):c.1457G>A (p.Trp486Ter)SNV Pathogenic 812681 12:50492561-50492561 12:50098778-50098778
4 SMARCD1 NM_003076.5(SMARCD1):c.1483T>C (p.Phe495Leu)SNV Pathogenic 812682 12:50492587-50492587 12:50098804-50098804
5 SMARCD1 NM_003076.5(SMARCD1):c.1507C>T (p.Arg503Ter)SNV Pathogenic 812683 12:50492742-50492742 12:50098959-50098959

Expression for Coffin-Siris Syndrome 11

Search GEO for disease gene expression data for Coffin-Siris Syndrome 11.

Pathways for Coffin-Siris Syndrome 11

GO Terms for Coffin-Siris Syndrome 11

Sources for Coffin-Siris Syndrome 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
31 HPO
32 ICD10
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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