Giacheti Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Giacheti Syndrome

MalaCards integrated aliases for Giacheti Syndrome:

Name: Giacheti Syndrome ⁵⁷ ⁷¹

Marfanoid Habitus and Specific Language and Learning Disabilities ⁵⁷

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

External Ids:

OMIM® ⁵⁷ 612917

MedGen ⁴⁰ C2752043

SNOMED-CT via HPO ⁶⁹ 248328003 299462005 44593008

UMLS ⁷¹ C2752043

Sources

Summaries for Giacheti Syndrome

MalaCards based summary: Giacheti Syndrome, is also known as marfanoid habitus and specific language and learning disabilities. Related phenotypes are neurological speech impairment and specific learning disability

More information from OMIM: 612917

Sources

Related Diseases for Giacheti Syndrome

Sources

Symptoms & Phenotypes for Giacheti Syndrome

Human phenotypes related to Giacheti Syndrome:

³⁰ (showing 7, show less)

#	Description	HPO Source Accession
1	neurological speech impairment ³⁰	HP:0002167
2	specific learning disability ³⁰	HP:0001328
3	long face ³⁰	HP:0000276
4	high forehead ³⁰	HP:0000348
5	tall stature ³⁰	HP:0000098
6	hypotelorism ³⁰	HP:0000601
7	long foot ³⁰	HP:0001833

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Head And Neck Face:
long face

Head And Neck Eyes:
hypotelorism

Skeletal Hands:
long hands

Growth Height:
tall stature (>97th centile)

Head And Neck Head:
high forehead

Neurologic Central Nervous System:
learning disabilities
speech impairment
language disabilities
defects in auditory cue processing
defects in visual cue processing

Skeletal Feet:
long feet

Head And Neck Nose:
long thin nose

Clinical features from OMIM®:

612917 (Updated 08-Dec-2022)

Sources

Drugs & Therapeutics for Giacheti Syndrome

Search Clinical Trials, NIH Clinical Center for Giacheti Syndrome

Sources

Genetic Tests for Giacheti Syndrome

Sources

Anatomical Context for Giacheti Syndrome

Sources

Publications for Giacheti Syndrome

Articles related to Giacheti Syndrome:

(showing 1, show less)

#	Title	Authors	PMID	Year
1	A newly recognized syndrome of Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and a specific pattern of language and learning disabilities. ⁵⁷	Giacheti CM...Richieri-Costa A	17907158	2007

Sources

Genes for Giacheti Syndrome

Sources

Variations for Giacheti Syndrome

Sources

Expression for Giacheti Syndrome

Search GEO for disease gene expression data for Giacheti Syndrome.

Sources

Pathways for Giacheti Syndrome

Sources

GO Terms for Giacheti Syndrome

Sources

Sources for Giacheti Syndrome

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: GCH021 MIFTS: 10	Giacheti Syndrome	Data Licensing For inquiries, contact: [email protected]
Publications Symptoms & Phenotypes Collapse all tables