MCID: SYM015
MIFTS: 14

Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers

Categories: Fetal diseases, Rare diseases

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

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

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

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

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

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

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

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

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

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

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

41
Heart

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

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

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

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

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

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

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

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17 ExPASy
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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