CSS9
MCID: CFF014
MIFTS: 22

Coffin-Siris Syndrome 9 (CSS9)

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

Aliases & Classifications for Coffin-Siris Syndrome 9

MalaCards integrated aliases for Coffin-Siris Syndrome 9:

Name: Coffin-Siris Syndrome 9 57
Mental Retardation, Autosomal Dominant 27 57 74 29 6
Mrd27 57 74
Mental Retardation, Autosomal Dominant 27; Mrd27 57
Mental Retardation, Autosomal Dominant, Type 27 40
Css9 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
two patients have been described (last curated june 2014)


HPO:

32
coffin-siris syndrome 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

MeSH 44 D008607

Summaries for Coffin-Siris Syndrome 9

UniProtKB/Swiss-Prot : 74 Mental retardation, autosomal dominant 27: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD27 patients show dysmorphic facial features, microcephaly, growth deficiency, hypoplastic fifth toenails, and mild intellectual disability.

MalaCards based summary : Coffin-Siris Syndrome 9, also known as mental retardation, autosomal dominant 27, is related to autosomal dominant non-syndromic intellectual disability 27. An important gene associated with Coffin-Siris Syndrome 9 is SOX11 (SRY-Box Transcription Factor 11). Affiliated tissues include kidney, and related phenotypes are low-set ears and clinodactyly

OMIM : 57 Coffin-Siris syndrome 9 is characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails (Tsurusaki et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900). (615866)

Related Diseases for Coffin-Siris Syndrome 9

Diseases in the Coffin-Siris Syndrome 1 family:

Coffin-Siris Syndrome 2 Coffin-Siris Syndrome 3
Coffin-Siris Syndrome 4 Coffin-Siris Syndrome 9
Coffin-Siris Syndrome 5 Coffin-Siris Syndrome 6
Coffin-Siris Syndrome 7 Coffin-Siris Syndrome 8
Coffin-Siris Syndrome 10

Diseases related to Coffin-Siris Syndrome 9 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal dominant non-syndromic intellectual disability 27 11.3

Symptoms & Phenotypes for Coffin-Siris Syndrome 9

Human phenotypes related to Coffin-Siris Syndrome 9:

32 (show all 30)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 clinodactyly 32 HP:0030084
3 intellectual disability 32 HP:0001249
4 depressed nasal bridge 32 HP:0005280
5 abnormal facial shape 32 HP:0001999
6 short nose 32 HP:0003196
7 thick vermilion border 32 HP:0012471
8 microcephaly 32 HP:0000252
9 short stature 32 HP:0004322
10 intellectual disability, mild 32 HP:0001256
11 full cheeks 32 HP:0000293
12 open mouth 32 HP:0000194
13 short philtrum 32 HP:0000322
14 highly arched eyebrow 32 HP:0002553
15 everted lower lip vermilion 32 HP:0000232
16 growth delay 32 HP:0001510
17 intrauterine growth retardation 32 HP:0001511
18 underdeveloped nasal alae 32 HP:0000430
19 midface retrusion 32 HP:0011800
20 short distal phalanx of finger 32 HP:0009882
21 long eyelashes 32 HP:0000527
22 underdeveloped supraorbital ridges 32 HP:0009891
23 long nose 32 HP:0003189
24 hypoplastic fifth toenail 32 HP:0011937
25 hypertrichosis 32 HP:0000998
26 posteriorly rotated ears 32 HP:0000358
27 short palpebral fissure 32 HP:0012745
28 abnormality of the nares 32 HP:0005288
29 short chin 32 HP:0000331
30 abnormality of the columella 32 HP:0009929

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Skeletal Feet:
clinodactyly

Growth Height:
short stature

Growth Other:
intrauterine growth retardation

Neurologic Central Nervous System:
mental retardation, mild

Head And Neck Eyes:
arched eyebrows

Skin Nails Hair Nails:
absent/hypoplastic fifth toenails
absent/hypoplastic fifth fingernails

Skeletal Hands:
clinodactyly

Head And Neck Head:
microcephaly

Head And Neck Face:
full cheeks

Skin Nails Hair Hair:
hypertrichosis
arched eyebrows

Head And Neck Mouth:
everted lower lip

Genitourinary Kidneys:
small kidney
malrotated kidneys, bilateral

Clinical features from OMIM:

615866

Drugs & Therapeutics for Coffin-Siris Syndrome 9

Search Clinical Trials , NIH Clinical Center for Coffin-Siris Syndrome 9

Genetic Tests for Coffin-Siris Syndrome 9

Genetic tests related to Coffin-Siris Syndrome 9:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 27 29 SOX11

Anatomical Context for Coffin-Siris Syndrome 9

MalaCards organs/tissues related to Coffin-Siris Syndrome 9:

41
Kidney

Publications for Coffin-Siris Syndrome 9

Articles related to Coffin-Siris Syndrome 9:

# Title Authors PMID Year
1
De novo SOX11 mutations cause Coffin-Siris syndrome. 8 71
24886874 2014

Variations for Coffin-Siris Syndrome 9

ClinVar genetic disease variations for Coffin-Siris Syndrome 9:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SOX11 NM_003108.4(SOX11): c.1286G> A (p.Trp429Ter) single nucleotide variant Pathogenic rs1057518672 2:5834139-5834139 2:5694007-5694007
2 SOX11 NM_003108.4(SOX11): c.347A> G (p.Tyr116Cys) single nucleotide variant Pathogenic rs587777479 2:5833200-5833200 2:5693068-5693068
3 SOX11 NM_003108.4(SOX11): c.178T> C (p.Ser60Pro) single nucleotide variant Pathogenic rs587777480 2:5833031-5833031 2:5692899-5692899
4 SOX11 NM_003108.4(SOX11): c.293del (p.Phe98fs) deletion Likely pathogenic 2:5833146-5833146 2:5693014-5693014
5 SOX11 NM_003108.4(SOX11): c.322A> G (p.Lys108Glu) single nucleotide variant Likely pathogenic 2:5833175-5833175 2:5693043-5693043

UniProtKB/Swiss-Prot genetic disease variations for Coffin-Siris Syndrome 9:

74
# Symbol AA change Variation ID SNP ID
1 SOX11 p.Ser60Pro VAR_071461 rs587777480
2 SOX11 p.Tyr116Cys VAR_071462 rs587777479

Expression for Coffin-Siris Syndrome 9

Search GEO for disease gene expression data for Coffin-Siris Syndrome 9.

Pathways for Coffin-Siris Syndrome 9

GO Terms for Coffin-Siris Syndrome 9

Sources for Coffin-Siris Syndrome 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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