Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Neuronal diseases Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly affecting facial appearance

Orphanet: ⁵⁸

Rare neurological diseases

Rare endocrine diseases

Developmental anomalies during embryogenesis

External Ids:

ICD10 via Orphanet ³³ Q87.0

Orphanet ⁵⁸ ORPHA276630

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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

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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

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%)

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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

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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

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

⁴⁰

Heart

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

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

Genes related to Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	RPS6KA3	Ribosomal Protein S6 Kinase A3	Protein Coding	350	Causative germline mutation ⁵⁸

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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

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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