Chondrodysplasia Punctata 1, X-linked malady

MedlinePlus: Vitamin k helps your body by making proteins for healthy bones and tissues. it also makes proteins for blood clotting. if you don't have enough vitamin k, you may bleed too much. newborns have very little vitamin k. they usually get a shot of vitamin k soon after they are born. if you take blood thinners, you need to be careful about how much vitamin k you get. you also need to be careful about taking vitamin e supplements. vitamin e can interfere with how vitamin k works in your body. ask your health care provider for recommendations about these vitamins. most people get their vitamin k from plants such as green vegetables, and dark berries. bacteria in your intestines also produce small amounts of vitamin k.²³

MalaCards: Chondrodysplasia Punctata 1, X-linked, also known as arylsulfatase e deficiency, is related to rhizomelic chondrodysplasia punctata and chondrodysplasia punctata 2, x-linked. An important gene associated with Chondrodysplasia Punctata 1, X-linked is ARSE (arylsulfatase E (chondrodysplasia punctata 1)). Affiliated tissues include small intestine.

Genetics Home Reference: X-linked chondrodysplasia punctata 1 is a disorder of cartilage and bone development that occurs almost exclusively in males. Chondrodysplasia punctata is an abnormality that appears on x-rays as spots (stippling) near the ends of bones and in cartilage. In most infants with X-linked chondrodysplasia punctata 1, this stippling is seen in bones of the ankles, toes, and fingers; however, it can also appear in other bones. The stippling generally disappears in early childhood.¹⁷

GeneReviews summary for cdp1-xlr

chondrodysplasia punctata 1, x-linked 15 16 17 arylsulfatase e deficiency 15 16 17 cdpx1 15 16 17 vitamin k deficiency 32 43 vitamin k 17 23

chondrodysplasia punctata, brachytelephalangic 43 x-linked chondrodysplasia punctata 1 17 chondrodysplasia punctata 43 malnutrition 43

Diseases related to chondrodysplasia punctata 1, x-linked by text searches and GeneDecks gene sharing:

(show top 50)    (show all 375)

id	Related Disease	Score	Top Affiliating Genes
1	rhizomelic chondrodysplasia punctata	11.5
2	chondrodysplasia punctata 2, x-linked	11.0
3	chondrodysplasia punctata 1, x-linked recessive	10.0
4	rhizomelic chondrodysplasia punctata type 2	9.9
5	rhizomelic chondrodysplasia punctata type 1	9.8
6	carcinoma	9.7
7	chondrodysplasia punctata 2 x-linked dominant	9.7
8	hepatocellular carcinoma	9.4
9	chondrodysplasia punctata, unclassified	9.3
10	chondrodysplasia punctata	9.3
11	rhizomelic chondrodysplasia punctata spectrum	9.1
12	protein-energy malnutrition	8.9
13	vitamin k-dependent clotting factors	8.9
14	chondrodysplasia punctata, tibia metacarpal type	8.9
15	rhizomelic chondrodysplasia punctata, type 3	8.9
16	chondrodysplasia	8.8
17	chondrodysplasia punctata, x-linked recessive	8.8
18	vitamin k deficiency hemorrhagic disease	8.8
19	ichthyosis	8.2
20	chondrodysplasia punctata sheffield type	8.2
21	chondrodysplasia punctata with steroid sulfatase deficiency	8.2
22	chondrodysplasia punctata, humero-metacarpal type	8.2
23	leukemia	7.7
24	cholesterol	7.7
25	peroxisome biogenesis disorders multi-gene panels	7.7
26	x-linked ichthyosis	7.7
27	zellweger syndrome	7.7
28	peritonitis	7.5
29	vitamin k-dependent coagulation defect	7.5
30	vitamin k-dependent clotting factors, combined deficiency of, 1	7.5
31	warfarin sensitivity	7.5
32	liver disease	7.3
33	pancreatitis	7.1
34	vitamin k-dependent clotting factors, combined deficiency of, 2	7.1
35	albinism	6.8
36	dyskeratosis congenita	6.8
37	dyskeratosis	6.8
38	hepatitis	6.8
39	kallmann syndrome	6.8
40	ocular albinism	6.8
41	peroxisomal biogenesis disorder	6.8
42	peroxisome biogenesis disorders	6.8
43	refsum disease	6.8
44	short stature	6.8
45	pancreatic cancer	6.5
46	urolithiasis	6.5
47	arthritis	6.5
48	bleeding disorder	6.5
49	hepatitis b	6.5
50	hepatoblastoma	6.5

Approved drugs:

Drug clinical trials:

Genetic tests related to chondrodysplasia punctata 1, x-linked:

id	Genetic test	Affiliating Genes
1	Chondrodysplasia Punctata 1, X-linked clinical/research	ARSE

MalaCards organs/tissues related to chondrodysplasia punctata 1, x-linked:

²²

Articles related to chondrodysplasia punctata 1, x-linked:

id	Title	Authors	Year	Affiliating Genes
1	Chondrodysplasia Punctata 1, X-Linked Recessive (20301713)	Braverman N.E.... Oswald G.L.	1993	ARSE

Genes related to chondrodysplasia punctata 1, x-linked according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	ARSE	arylsulfatase E (chondrodysplasia punctata 1)	11.1	Publications, Disorders