MCID: XYL001
MIFTS: 14

Xylt1-Cdg

Categories: Fetal diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Xylt1-Cdg

MalaCards integrated aliases for Xylt1-Cdg:

Name: Xylt1-Cdg 58

Characteristics:

Orphanet epidemiological data:

58
xylt1-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Xylt1-Cdg

MalaCards based summary : Xylt1-Cdg An important gene associated with Xylt1-Cdg is XYLT1 (Xylosyltransferase 1). Affiliated tissues include bone and skin, and related phenotypes are hepatomegaly and pes planus

Related Diseases for Xylt1-Cdg

Symptoms & Phenotypes for Xylt1-Cdg

Human phenotypes related to Xylt1-Cdg:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
2 pes planus 58 31 frequent (33%) Frequent (79-30%) HP:0001763
3 thick vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0012471
4 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
5 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
6 broad thumb 58 31 frequent (33%) Frequent (79-30%) HP:0011304
7 broad ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000885
8 acne 58 31 frequent (33%) Frequent (79-30%) HP:0001061
9 joint dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0001373
10 joint laxity 58 31 frequent (33%) Frequent (79-30%) HP:0001388
11 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
12 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
13 coxa valga 58 31 frequent (33%) Frequent (79-30%) HP:0002673
14 synophrys 58 31 frequent (33%) Frequent (79-30%) HP:0000664
15 accelerated skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0005616
16 short clavicles 58 31 frequent (33%) Frequent (79-30%) HP:0000894
17 short long bone 58 31 frequent (33%) Frequent (79-30%) HP:0003026
18 short femoral neck 58 31 frequent (33%) Frequent (79-30%) HP:0100864
19 clinodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0030084
20 flared metaphysis 58 31 frequent (33%) Frequent (79-30%) HP:0003015
21 soft, doughy skin 58 31 frequent (33%) Frequent (79-30%) HP:0001027
22 moon facies 58 31 frequent (33%) Frequent (79-30%) HP:0500011
23 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
24 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
25 proptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000520
26 truncal obesity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001956
27 relative macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0004482
28 hirsutism 58 31 occasional (7.5%) Occasional (29-5%) HP:0001007
29 growth delay 58 Frequent (79-30%)

Drugs & Therapeutics for Xylt1-Cdg

Search Clinical Trials , NIH Clinical Center for Xylt1-Cdg

Genetic Tests for Xylt1-Cdg

Anatomical Context for Xylt1-Cdg

MalaCards organs/tissues related to Xylt1-Cdg:

40
Bone, Skin

Publications for Xylt1-Cdg

Variations for Xylt1-Cdg

Expression for Xylt1-Cdg

Search GEO for disease gene expression data for Xylt1-Cdg.

Pathways for Xylt1-Cdg

GO Terms for Xylt1-Cdg

Sources for Xylt1-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
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