MCID: GMP001
MIFTS: 1

Gmppa-Cdg

Categories: Rare diseases

Aliases & Classifications for Gmppa-Cdg

MalaCards integrated aliases for Gmppa-Cdg:

Name: Gmppa-Cdg 52

Classifications:



Summaries for Gmppa-Cdg

NIH Rare Diseases : 52 GMPPA-congenital disorder of glycosylation (GMPPA-CDG) is a rare disease, part of the group of congenital disorders of glycosylation . It is characterized by lack of tears (alacrima), difficulty in swallowing due to problems in the esophagus muscle (achalasia ), and intellectual disability , starting at birth or in early infancy. More variable features include low muscle tone (hypotonia ), gait abnormalities, differently sized pupils (anisocoria), and vision or hearing problems. The disorder is very similar to the triple A syndrome , but patients with AAMR do not have adrenal insufficiency . It is caused by a mutation in the GMPPA gene and is inherited in an autosomal recessive way. Treatment is directed to the symptoms and may involve using artificial tears, medication, balloon dilation or surgery to correct the defect in the esophagus, and physical therapy .

MalaCards based summary : Gmppa-Cdg

Related Diseases for Gmppa-Cdg

Symptoms & Phenotypes for Gmppa-Cdg

Drugs & Therapeutics for Gmppa-Cdg

Search Clinical Trials , NIH Clinical Center for Gmppa-Cdg

Genetic Tests for Gmppa-Cdg

Anatomical Context for Gmppa-Cdg

Publications for Gmppa-Cdg

Variations for Gmppa-Cdg

Expression for Gmppa-Cdg

Search GEO for disease gene expression data for Gmppa-Cdg.

Pathways for Gmppa-Cdg

GO Terms for Gmppa-Cdg

Sources for Gmppa-Cdg

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....