MCID: SYM015
MIFTS: 15

Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers

Categories: Endocrine diseases, Fetal diseases, Neuronal 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 hypertelorism and pectus excavatum

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 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
2 pectus excavatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000767
3 obesity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001513
4 frontal bossing 59 32 occasional (7.5%) Occasional (29-5%) HP:0002007
5 depressivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000716
6 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
7 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
8 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
9 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
10 pectus carinatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000768
11 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
12 everted lower lip vermilion 59 32 occasional (7.5%) Occasional (29-5%) HP:0000232
13 psychosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000709
14 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
15 bipolar affective disorder 59 32 occasional (7.5%) Occasional (29-5%) HP:0007302
16 wide nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0000445
17 large hands 59 32 hallmark (90%) Very frequent (99-80%) HP:0001176
18 tapered finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0001182
19 oligodontia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000677
20 anodontia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000674
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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11 DGIdb
17 ExPASy
19 FMA
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30 HGMD
31 HMDB
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34 ICD10 via Orphanet
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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