CSS9
MCID: CFF014
MIFTS: 25

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 56 73
Mental Retardation, Autosomal Dominant 27 56 73 29 6
Mrd27 56 73
Css9 56 73
Mental Retardation, Autosomal Dominant 27; Mrd27 56
Mental Retardation, Autosomal Dominant, Type 27 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
coffin-siris syndrome 9:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Coffin-Siris Syndrome 9

UniProtKB/Swiss-Prot : 73 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, eye and bone, and related phenotypes are low-set ears and clinodactyly

OMIM : 56 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:

31 (show all 30)
# Description HPO Frequency HPO Source Accession
1 low-set ears 31 HP:0000369
2 clinodactyly 31 HP:0030084
3 intellectual disability 31 HP:0001249
4 depressed nasal bridge 31 HP:0005280
5 abnormal facial shape 31 HP:0001999
6 short nose 31 HP:0003196
7 thick vermilion border 31 HP:0012471
8 short stature 31 HP:0004322
9 underdeveloped nasal alae 31 HP:0000430
10 intrauterine growth retardation 31 HP:0001511
11 microcephaly 31 HP:0000252
12 midface retrusion 31 HP:0011800
13 intellectual disability, mild 31 HP:0001256
14 full cheeks 31 HP:0000293
15 open mouth 31 HP:0000194
16 short philtrum 31 HP:0000322
17 highly arched eyebrow 31 HP:0002553
18 everted lower lip vermilion 31 HP:0000232
19 growth delay 31 HP:0001510
20 short chin 31 HP:0000331
21 posteriorly rotated ears 31 HP:0000358
22 short distal phalanx of finger 31 HP:0009882
23 long eyelashes 31 HP:0000527
24 underdeveloped supraorbital ridges 31 HP:0009891
25 long nose 31 HP:0003189
26 hypoplastic fifth toenail 31 HP:0011937
27 hypertrichosis 31 HP:0000998
28 short palpebral fissure 31 HP:0012745
29 abnormality of the nares 31 HP:0005288
30 abnormality of the columella 31 HP:0009929

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Skeletal Feet:
clinodactyly

Growth Other:
intrauterine growth retardation

Head And Neck Face:
full cheeks

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

Growth Height:
short stature

Head And Neck Head:
microcephaly

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:

40
Kidney, Eye, Bone

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. 56 6
24886874 2014

Variations for Coffin-Siris Syndrome 9

ClinVar genetic disease variations for Coffin-Siris Syndrome 9:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SOX11 NM_003108.4(SOX11):c.347A>G (p.Tyr116Cys)SNV Pathogenic 139529 rs587777479 2:5833200-5833200 2:5693068-5693068
2 SOX11 NM_003108.4(SOX11):c.178T>C (p.Ser60Pro)SNV Pathogenic 139530 rs587777480 2:5833031-5833031 2:5692899-5692899
3 SOX11 NM_003108.4(SOX11):c.1286G>A (p.Trp429Ter)SNV Pathogenic 374396 rs1057518672 2:5834139-5834139 2:5694007-5694007
4 SOX11 NM_003108.4(SOX11):c.353A>C (p.Tyr118Ser)SNV Pathogenic 807694 2:5833206-5833206 2:5693074-5693074
5 SOX11 NM_003108.4(SOX11):c.293del (p.Phe98fs)deletion Likely pathogenic 598747 rs1558373252 2:5833145-5833145 2:5693013-5693013
6 SOX11 NM_003108.4(SOX11):c.322A>G (p.Lys108Glu)SNV Likely pathogenic 620069 rs1558373293 2:5833175-5833175 2:5693043-5693043
7 SOX11 NM_003108.4(SOX11):c.1216del (p.Ser406fs)deletion Likely pathogenic 666571 2:5834069-5834069 2:5693937-5693937
8 SOX11 NM_003108.4(SOX11):c.1109C>T (p.Ser370Phe)SNV Uncertain significance 801648 2:5833962-5833962 2:5693830-5693830

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

73
# 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
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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