Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Academic Licensing Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MCID: SYM015
MIFTS: 14

Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers

Categories: Fetal diseases, Rare diseases
Genes Tissues Symptoms & Phenotypes
Sources

Aliases & Classifications for Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers

About this section

MalaCards integrated aliases for Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers:

Name: Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers 59

Characteristics:

Orphanet epidemiological data:

59
symptomatic form of coffin-lowry syndrome in female carriers
Inheritance: Autosomal dominant,Not applicable;

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Developmental anomalies during embryogenesis


Sources

Summaries for Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers

About this section
MalaCards based summary : Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers An important gene associated with Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers is RPS6KA3 (Ribosomal Protein S6 Kinase A3). Affiliated tissues include heart, and related phenotypes are everted lower lip vermilion and hypertelorism

Sources

Related Diseases for Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers

About this section
Sources

Symptoms & Phenotypes for Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers

About this section

Human phenotypes related to Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers:

59 32 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 everted lower lip vermilion 59 32 occasional (7.5%) Occasional (29-5%) HP:0000232
2 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
3 wide nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0000445
4 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
5 anodontia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000674
6 oligodontia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000677
7 psychosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000709
8 depressivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000716
9 pectus excavatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000767
10 pectus carinatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000768
11 large hands 59 32 hallmark (90%) Very frequent (99-80%) HP:0001176
12 tapered finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0001182
13 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
14 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
15 obesity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001513
16 frontal bossing 59 32 occasional (7.5%) Occasional (29-5%) HP:0002007
17 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
18 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
19 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
20 bipolar affective disorder 59 32 occasional (7.5%) Occasional (29-5%) HP:0007302
21 malformation of the heart and great vessels 59 Occasional (29-5%)
22 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
Sources

Drugs & Therapeutics for Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers

About this section

Search Clinical Trials , NIH Clinical Center for Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers

Sources

Genetic Tests for Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers

About this section
Sources

Anatomical Context for Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers

About this section

MalaCards organs/tissues related to Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers:

41
Heart
Sources

Publications for Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers

About this section
Sources

Variations for Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers

About this section
Sources

Expression for Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers

About this section
Search GEO for disease gene expression data for Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers.
Sources

Pathways for Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers

About this section
Sources

GO Terms for Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers

About this section
Sources

Sources for Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....