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MCID: SYM015
MIFTS: 15

Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers

Categories: Endocrine diseases, Fetal diseases, Neuronal diseases, Rare diseases
Genes Tissues Symptoms & Phenotypes
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Aliases & Classifications for Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers

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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
Anatomical: Neuronal diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


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

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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

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

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

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

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

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

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

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

41
Heart
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Publications for Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers

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

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

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

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

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

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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
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