MCID: SYM015
MIFTS: 13

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

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

Name: Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers 58

Characteristics:

Orphanet epidemiological data:

58
symptomatic form of coffin-lowry syndrome in female carriers
Inheritance: Autosomal dominant,Not applicable;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


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 large hands and tapered finger

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:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 large hands 58 31 hallmark (90%) Very frequent (99-80%) HP:0001176
2 tapered finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0001182
3 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
4 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
5 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
6 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
7 pectus carinatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000768
8 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
9 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
10 everted lower lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000232
11 obesity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001513
12 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
13 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
14 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
15 bipolar affective disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007302
16 psychosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000709
17 wide nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000445
18 oligodontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000677
19 anodontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000674
20 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
21 seizure 31 occasional (7.5%) HP:0001250
22 seizures 58 Occasional (29-5%)
23 malformation of the heart and great vessels 58 Occasional (29-5%)

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:

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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

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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