MCID: XLN018
MIFTS: 22

X-Linked Creatine Deficiency malady

Neuronal, Endocrine categories

Summaries for X-Linked Creatine Deficiency

Sources:
21Genetics Home Reference, 33MalaCards
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Genetics Home Reference:21 X-linked creatine deficiency is an inherited disorder that primarily affects the brain. People with this disorder have intellectual disability, which can range from mild to severe, and delayed speech development. Some affected individuals develop behavioral disorders such as attention deficit hyperactivity disorder or autistic behaviors that affect communication and social interaction. They may also experience seizures. Children with X-linked creatine deficiency may experience slow growth and exhibit delayed development of motor skills such as sitting and walking. Affected individuals tend to tire easily.

MalaCards: X-Linked Creatine Deficiency, also known as x-linked creatine deficiency syndrome, is related to thyroid hormone plasma membrane transport defect and patent foramen ovale. An important gene associated with X-Linked Creatine Deficiency is SLC6A8 (solute carrier family 6 (neurotransmitter transporter), member 8). Affiliated tissues include brain and thyroid.

Aliases & Classifications for X-Linked Creatine Deficiency

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 61UMLS, 22GTR
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Endocrine


Aliases & Descriptions:

x-linked creatine deficiency 43 21
x-linked creatine deficiency syndrome 43 22 21
creatine deficiency, x-linked 43 61
mental retardation , x-linked with seizures, short stature and midface hypoplasia 43
mental retardation , x-linked, with creatine transport deficiency 43
thyroid hormone plasma membrane transport defect 61
slc6a8-related creatine transporter deficiency 21
x-linked creatine transporter deficiency 43
creatine transporter deficiency 21
creatine transporter defect 21
slc6a8 deficiency 21


Related Diseases for X-Linked Creatine Deficiency

Sources:
17GeneCards, 18GeneDecks
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Diseases related to X-Linked Creatine Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 64)
idRelated DiseaseScoreTop Affiliating Genes
1thyroid hormone plasma membrane transport defect10.6
2patent foramen ovale10.4
3glanzmann's thrombasthenia10.4
4takayasu's arteritis10.4
5atrioventricular septal defect10.4
6congenital diaphragmatic hernia10.4
7atrial heart septal defect10.4
8urea cycle disorder10.4
9hereditary folate malabsorption10.4
10zap70-related severe combined immunodeficiency10.4
11acro-pectoro-renal field defect10.4
12ankle defects short stature10.4
13axial mesodermal dysplasia spectrum10.4
14branchial arch defects10.4
15cardioskeletal syndrome kuwaiti type10.4
16sacral defect with anterior meningocele10.4
17caudal regression syndrome10.4
18chylomicron retention disease10.4
19cystinosis, ocular nonnephropathic10.4
20hmg coa lyase deficiency10.4
21imerslund-grasbeck syndrome10.4
22defective apolipoprotein b-10010.4
23diaphragmatic hernia upper limb defects10.4
24peroxisome disorders10.4
25heart defect, tongue hamartoma and polysyndactyly10.4
26hermansky pudlak syndrome 210.4
27heterotaxy10.4
28red cell phospholipid defect with hemolysis10.4
29hyperthermia induced defects10.4
30lateral body wall defect10.4
31laterality defects dominant10.4
32limb reduction defect10.4
33overgrowth radial ray defect arthrogryposis10.4
34paraomphalocele10.4
35reductional transverse limb defects10.4
36renal agenesis meningomyelocele mullerian defect10.4
37trigonomacrocephaly tibial defect polydactyly10.4
38thyroid hormonogenesis defect i10.4
39combined oxidative phosphorylation deficiency 210.4
40combined oxidative phosphorylation deficiency 510.4
41combined oxidative phosphorylation deficiency 410.4
42combined oxidative phosphorylation deficiency 710.4
43combined oxidative phosphorylation deficiency 810.4
44combined oxidative phosphorylation deficiency 1010.4
45abdominal wall defect10.4
46critical congenital heart disease10.4
47heart block, progressive, type ia10.4
48combined oxidative phosphorylation deficiency 910.4
49congenital heart defects, nonsyndromic, 210.4
50robinow syndrome, autosomal recessive10.4

Graphical network of the top 20 diseases related to X-Linked Creatine Deficiency:



Diseases related to x-linked creatine deficiency

Clinical Features for X-Linked Creatine Deficiency

Drugs & Therapeutics for X-Linked Creatine Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for X-Linked Creatine Deficiency

Drug clinical trials:

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Search NIH Clinical Center for X-Linked Creatine Deficiency

Search CenterWatch for X-Linked Creatine Deficiency

Genetic Tests for X-Linked Creatine Deficiency

Sources:
22GTR
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Genetic tests related to X-Linked Creatine Deficiency:

id Genetic test Affiliating Genes
1 Creatine Deficiency, X-linked22

Anatomical Context for X-Linked Creatine Deficiency

Sources:
33MalaCards
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MalaCards organs/tissues related to X-Linked Creatine Deficiency:

33
Brain, Thyroid

Animal Models for X-Linked Creatine Deficiency or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for X-Linked Creatine Deficiency

Genetic Variations for X-Linked Creatine Deficiency

Expression for genes affiliated with X-Linked Creatine Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with X-Linked Creatine Deficiency

Search GEO for disease gene expression data for X-Linked Creatine Deficiency.

Pathways for genes affiliated with X-Linked Creatine Deficiency

Compounds for genes affiliated with X-Linked Creatine Deficiency

GO Terms for genes affiliated with X-Linked Creatine Deficiency

Products for genes affiliated with X-Linked Creatine Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for X-Linked Creatine Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet