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 and has symptoms including everted lower lip vermilion, hypertelorism and wide nose. 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.

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:

55 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 everted lower lip vermilion 55 31 occasional (7.5%) Occasional (29-5%) HP:0000232
2 hypertelorism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000316
3 wide nose 55 31 occasional (7.5%) Occasional (29-5%) HP:0000445
4 downslanted palpebral fissures 55 31 occasional (7.5%) Occasional (29-5%) HP:0000494
5 anodontia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000674
6 oligodontia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000677
7 psychosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000709
8 pectus excavatum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000767
9 pectus carinatum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000768
10 large hands 55 31 hallmark (90%) Very frequent (99-80%) HP:0001176
11 tapered finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0001182
12 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
13 muscular hypotonia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001252
14 obesity 55 31 occasional (7.5%) Occasional (29-5%) HP:0001513
15 frontal bossing 55 31 occasional (7.5%) Occasional (29-5%) HP:0002007
16 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
17 kyphosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002808
18 short stature 55 31 occasional (7.5%) Occasional (29-5%) HP:0004322
19 bipolar affective disorder 55 31 occasional (7.5%) Occasional (29-5%) HP:0007302
20 depression 55 Occasional (29-5%)
21 malformation of the heart and great vessels 55 Occasional (29-5%)
22 depressivity 31 occasional (7.5%) HP:0000716
23 abnormality of cardiovascular system morphology 31 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:

38
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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