X-linked Creatine Deficiency malady

Genetics Home Reference: 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.¹⁷

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

OMIM: 300352

x-linked creatine deficiency 30 17 creatine deficiency, x-linked 30 43 mental retardation , x-linked with seizures, short stature and midface hypoplasia 30 mental retardation , x-linked, with creatine transport deficiency 30 thyroid hormone plasma membrane transport defect 43 slc6a8-related creatine transporter deficiency 17 x-linked creatine transporter deficiency 30

creatine deficiency syndrome, x-linked 33 x-linked creatine deficiency syndrome 30 creatine transporter deficiency 17 creatine transporter defect 17 slc6a8 deficiency 17 malnutrition 43

Diseases related to x-linked creatine deficiency by text searches and GeneDecks gene sharing:

(show top 50)    (show all 333)

id	Related Disease	Score	Top Affiliating Genes
1	thyroid hormone plasma membrane transport defect	9.7
2	protein-energy malnutrition	8.9
3	cortical defects wormian bones and dentinogenesis imperfecta	8.3
4	sacral defect with anterior meningocele	8.3
5	double outlet right ventricle	8.3
6	shoulder girdle defect mental retardation familial	8.3
7	defective apolipoprotein b-100	8.3
8	skeletal defects, genital hypoplasia, and mental retardation	8.3
9	hair defect with photosensitivity and mental retardation	8.3
10	selective t-cell defect	8.3
11	heart defect, tongue hamartoma and polysyndactyly	8.3
12	thyroid hormone organification defect iia	8.3
13	abdominal wall defect	8.3
14	hyperthermia induced defects	8.3
15	thyroid hormonogenesis defect i	8.3
16	acro-pectoro-renal field defect	8.3
17	hay-wells syndrome	8.3
18	takayasu's arteritis	8.3
19	allan-herndon-dudley syndrome	8.3
20	limb reduction defect	8.3
21	trigonomacrocephaly tibial defect polydactyly	8.3
22	ankle defects short stature	8.3
23	lateral body wall defect	8.3
24	total iodide organification defect	8.3
25	atrioventricular septal defect	8.3
26	laterality defects dominant	8.3
27	urea cycle disorder	8.3
28	atrial heart septal defect	8.3
29	microcephaly brain defect spasticity hypernatremia	8.3
30	zap70-related severe combined immunodeficiency	8.3
31	branchial arch defects	8.3
32	overgrowth radial ray defect arthrogryposis	8.3
33	birth defects	8.3
34	patent foramen ovale	8.3
35	caudal regression syndrome	8.3
36	red cell phospholipid defect with hemolysis	8.3
37	chylomicron retention disease	8.3
38	reductional transverse limb defects	8.3
39	congenital heart defect	8.3
40	renal agenesis meningomyelocele mullerian defect	8.3
41	slc6a8-related creatine transporter deficiency	8.1
42	peritonitis	7.5
43	creatine deficiency syndrome	7.2
44	cerebritis	6.7
45	atherosclerosis	6.5
46	alcoholism	6.3
47	hepatitis	6.3
48	anorexia nervosa	6.0
49	pancreatitis	6.0
50	insulin resistance	5.6

Clinical features from OMIM: 300352

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to x-linked creatine deficiency:

²²

Articles related to x-linked creatine deficiency:

id	Title	Authors	Year	Affiliating Genes
1	X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. (12210795)	Bizzi A.... Uziel G.	2002	SLC6A8

Genes related to x-linked creatine deficiency according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	SLC6A8	solute carrier family 6 (neurotransmitter transporter, creatine), member 8	11.1	Publications, Disorders, Summaries