Chondrodysplasia Punctata 1, X-linked Recessive malady

NIH Rare Diseases: Chondrodysplasia punctata 1, X-linked recessive (CDPX1) is a genetic disorder present from birth that affects bone and cartilage development. On x-ray, affected infants have characteristic spots at the ends of their bones. These spots are called chondrodysplasia punctata or stippled epiphyses and typically disappear between age 2 and 3. Additional common features of CDPX1 are shortened fingers and a flat nose. Some people with this condition have breathing abnormalities, hearing loss, abnormalities of the spinal bones in the neck, and delayed intellectual development. CDPX1 is caused by changes in the ARSE gene, which is located on the X chromosome. This condition is inherited in an X-linked recessive manner and occurs almost exclusively in males. Most affected individuals have a normal lifespan, although some individuals experience complications that can be life-threatening.³⁰

MalaCards: Chondrodysplasia Punctata 1, X-linked Recessive, also known as chondrodysplasia punctata 1 x-linked recessive, is related to rhizomelic chondrodysplasia punctata and rhizomelic chondrodysplasia punctata type 2. An important gene associated with Chondrodysplasia Punctata 1, X-linked Recessive is ARSE (arylsulfatase E (chondrodysplasia punctata 1)).

chondrodysplasia punctata 1, x-linked recessive 30 chondrodysplasia punctata 1 x-linked recessive 30 chondrodysplasia punctata, brachytelephalangic 30 chondrodysplasia punctata brachytelephalangic 30

arylsulfatase e deficiency 30 chondrodysplasia punctata 43 cdpx1 30 cpxr 30

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

(show all 21)

id	Related Disease	Score	Top Affiliating Genes
1	rhizomelic chondrodysplasia punctata	11.5
2	rhizomelic chondrodysplasia punctata type 2	9.9
3	rhizomelic chondrodysplasia punctata type 1	9.8
4	chondrodysplasia punctata, unclassified	9.3
5	chondrodysplasia punctata, x-linked recessive	9.2
6	rhizomelic chondrodysplasia punctata spectrum	9.1
7	chondrodysplasia punctata, tibia metacarpal type	8.9
8	rhizomelic chondrodysplasia punctata, type 3	8.9
9	chondrodysplasia punctata sheffield type	8.2
10	chondrodysplasia punctata with steroid sulfatase deficiency	8.2
11	chondrodysplasia punctata, humero-metacarpal type	8.2
12	chondrodysplasia punctata 2 x-linked dominant	7.7
13	peroxisome biogenesis disorders multi-gene panels	7.7
14	zellweger syndrome	7.7
15	ocular albinism	6.8
16	peroxisomal biogenesis disorder	6.8
17	peroxisome biogenesis disorders	6.8
18	refsum disease	6.8
19	albinism	6.8
20	kallmann syndrome	6.8
21	chondrodysplasia punctata 2, x-linked	6.5

Approved drugs:

Drug clinical trials:

Articles related to chondrodysplasia punctata 1, x-linked recessive:

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 recessive according to GeneCards:

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