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 24)
# 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 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
4 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
5 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
6 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
7 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
8 pectus carinatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000768
9 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
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 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
13 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
14 bipolar affective disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007302
15 psychosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000709
16 wide nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000445
17 oligodontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000677
18 anodontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000674
19 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
20 seizure 31 occasional (7.5%) HP:0001250
21 hypotonia 31 occasional (7.5%) HP:0001252
22 seizures 58 Occasional (29-5%)
23 muscular hypotonia 58 Occasional (29-5%)
24 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:

40
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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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