MCID: XLN018
MIFTS: 24

X-Linked Creatine Deficiency malady

Neuronal diseases, Endocrine diseases categories

Summaries for X-Linked Creatine Deficiency

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21Genetics Home Reference, 32MalaCards
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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 slc6a8-related creatine transporter deficiency. 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

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21Genetics Home Reference, 42NIH Rare Diseases, 60UMLS, 22GTR
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Classifications:

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


Aliases & Descriptions:

x-linked creatine deficiency 42 21
x-linked creatine deficiency syndrome 42 22 21
creatine deficiency, x-linked 42 60
mental retardation , x-linked with seizures, short stature and midface hypoplasia 42
mental retardation , x-linked, with creatine transport deficiency 42
thyroid hormone plasma membrane transport defect 60
slc6a8-related creatine transporter deficiency 21
x-linked creatine transporter deficiency 42
creatine transporter deficiency 21
creatine transporter defect 21
slc6a8 deficiency 21


Related Diseases for X-Linked Creatine Deficiency

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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 66)
idRelated DiseaseScoreTop Affiliating Genes
1thyroid hormone plasma membrane transport defect10.6
2slc6a8-related creatine transporter deficiency10.5
3patent foramen ovale10.4
4glanzmann's thrombasthenia10.4
5takayasu's arteritis10.4
6atrioventricular septal defect10.4
7congenital diaphragmatic hernia10.4
8atrial heart septal defect10.4
9congenital heart defect10.4
10urea cycle disorder10.4
11hereditary folate malabsorption10.4
12zap70-related severe combined immunodeficiency10.4
13acro-pectoro-renal field defect10.4
14ankle defects short stature10.4
15axial mesodermal dysplasia spectrum10.4
16branchial arch defects10.4
17cardioskeletal syndrome kuwaiti type10.4
18sacral defect with anterior meningocele10.4
19caudal regression syndrome10.4
20chylomicron retention disease10.4
21cystinosis, ocular nonnephropathic10.4
22hmg coa lyase deficiency10.4
23imerslund-grasbeck syndrome10.4
24defective apolipoprotein b-10010.4
25diaphragmatic hernia upper limb defects10.4
26peroxisome disorders10.4
27heart defect, tongue hamartoma and polysyndactyly10.4
28hermansky pudlak syndrome 210.4
29heterotaxy10.4
30red cell phospholipid defect with hemolysis10.4
31hyperthermia induced defects10.4
32lateral body wall defect10.4
33laterality defects dominant10.4
34limb reduction defect10.4
35overgrowth radial ray defect arthrogryposis10.4
36paraomphalocele10.4
37reductional transverse limb defects10.4
38renal agenesis meningomyelocele mullerian defect10.4
39trigonomacrocephaly tibial defect polydactyly10.4
40thyroid hormonogenesis defect i10.4
41combined oxidative phosphorylation deficiency 210.4
42combined oxidative phosphorylation deficiency 510.4
43combined oxidative phosphorylation deficiency 410.4
44combined oxidative phosphorylation deficiency 710.4
45combined oxidative phosphorylation deficiency 810.4
46combined oxidative phosphorylation deficiency 1010.4
47abdominal wall defect10.4
48critical congenital heart disease10.4
49heart block, progressive, type ia10.4
50combined oxidative phosphorylation deficiency 910.4

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

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Drugs & Therapeutics for X-Linked Creatine Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for X-Linked Creatine Deficiency

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Genetic Tests for X-Linked Creatine Deficiency

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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

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32MalaCards
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MalaCards organs/tissues related to X-Linked Creatine Deficiency:

32
Brain, Thyroid

Animal Models for X-Linked Creatine Deficiency or affiliated genes

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Publications for X-Linked Creatine Deficiency

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Genetic Variations for X-Linked Creatine Deficiency

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Expression for genes affiliated with X-Linked Creatine Deficiency

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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

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Compounds for genes affiliated with X-Linked Creatine Deficiency

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GO Terms for genes affiliated with X-Linked Creatine Deficiency

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Products for genes affiliated with X-Linked Creatine Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for X-Linked Creatine Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet