MCID: GCH021
MIFTS: 10

Giacheti Syndrome

Data Licensing
For inquiries, contact:

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

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

Related Diseases for Giacheti Syndrome

Symptoms & Phenotypes for Giacheti Syndrome

Human phenotypes related to Giacheti Syndrome:

30 (show all 7)
# Description HPO Frequency Orphanet Frequency 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 24-Oct-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 24-Oct-2022)

Drugs & Therapeutics for Giacheti Syndrome

Search Clinical Trials, NIH Clinical Center for Giacheti Syndrome

Genetic Tests for Giacheti Syndrome

Anatomical Context for Giacheti Syndrome

Publications for Giacheti Syndrome

Articles related to Giacheti Syndrome:

# 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
17907158 2007

Variations for Giacheti Syndrome

Expression for Giacheti Syndrome

Search GEO for disease gene expression data for Giacheti Syndrome.

Pathways for Giacheti Syndrome

GO Terms for Giacheti Syndrome

Sources for Giacheti Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....