Chondrodysplasia Punctata, X-linked Recessive malady

Wikipedia: X-linked recessive chondrodysplasia punctata is a type of chondrodysplasia punctata that can involve the...⁴⁴ more...

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

OMIM: 302950

chondrodysplasia punctata, x-linked recessive 33 chondrodysplasia punctata 43

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

(show all 32)

id	Related Disease	Score	Top Affiliating Genes
1	rhizomelic chondrodysplasia punctata	11.5
2	chondrodysplasia punctata 1, x-linked recessive	10.4
3	chondrodysplasia punctata 2, x-linked	10.2
4	rhizomelic chondrodysplasia punctata type 2	9.9
5	rhizomelic chondrodysplasia punctata type 1	9.8
6	chondrodysplasia punctata 2 x-linked dominant	9.3
7	chondrodysplasia punctata, unclassified	9.3
8	rhizomelic chondrodysplasia punctata spectrum	9.1
9	chondrodysplasia punctata, tibia metacarpal type	8.9
10	rhizomelic chondrodysplasia punctata, type 3	8.9
11	chondrodysplasia punctata	8.3
12	chondrodysplasia	8.3
13	chondrodysplasia punctata 1, x-linked	8.3
14	chondrodysplasia punctata with steroid sulfatase deficiency	8.2
15	chondrodysplasia punctata, humero-metacarpal type	8.2
16	ichthyosis	8.2
17	chondrodysplasia punctata sheffield type	8.2
18	cholesterol	7.7
19	peroxisome biogenesis disorders multi-gene panels	7.7
20	x-linked ichthyosis	7.7
21	zellweger syndrome	7.7
22	refsum disease	6.8
23	short stature	6.8
24	albinism	6.8
25	dyskeratosis congenita	6.8
26	dyskeratosis	6.8
27	hepatitis	6.8
28	kallmann syndrome	6.8
29	neuronitis	6.8
30	ocular albinism	6.8
31	peroxisomal biogenesis disorder	6.8
32	peroxisome biogenesis disorders	6.8

Clinical features from OMIM: 302950

Approved drugs:

Drug clinical trials:

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

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

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