Deafness, X-linked 2 malady

MalaCards: Deafness, X-linked 2, also known as sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear, is related to nonsyndromic deafness and sensorineural hearing loss. An important gene associated with Deafness, X-linked 2 is PRPS1 (phosphoribosyl pyrophosphate synthetase 1).

OMIM: 304400

deafness, x-linked 2 30 33 sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear 30 dfn 3 nonsyndromic hearing loss and deafness 30 deafness 3 conductive with stapes fixation 30 deafness mixed with perilymphatic gusher 30 deafness conductive with stapes fixation 30

perilymphatic gusher-deafness syndrome 30 complete hearing loss 43 gusher syndrome 30 nance deafness 30 dfnx2 30 dfn3 30

Disease types for deafness, x-linked 2 family:

deafness, x-linked 5	deafness, x-linked 3
deafness, x-linked 4	deafness, y-linked 1
deafness, x-linked 1

Diseases related to deafness, x-linked 2 by text searches and GeneDecks gene sharing:

(show top 50)    (show all 234)

id	Related Disease	Score	Top Affiliating Genes
1	nonsyndromic deafness	27.7	PRPS1, POU3F4
2	sensorineural hearing loss	27.4	PRPS1, POU3F4
3	hearing loss	24.8	PRPS1, POU3F4
4	x-linked nonsyndromic deafness	7.8
5	deafness x-linked, dfn3	7.3
6	deafness, x-linked, dfn	7.3
7	deafness, x-linked 5	7.3
8	deafness, x-linked 1, progressive	7.3
9	deafness, x-linked 3	7.3
10	deafness, x-linked 4	7.3
11	deafness, x-linked 1	7.3
12	nonsyndromic hearing loss and deafness, x-linked	7.3
13	dfnx2 nonsyndromic hearing loss and deafness	6.6
14	mohr-tranebjaerg syndrome	6.5
15	caudal appendage deafness	6.5
16	vohwinkel syndrome	6.5
17	chudley-mccullough syndrome	6.5
18	cleft palate colobomata radial synostosis deafness	6.5
19	congenital deafness with labyrinthine aplasia, microtia, and microdontia	6.5
20	dwarfism deafness retinitis pigmentosa	6.5
21	enchondromatosis dwarfism deafness	6.5
22	myoclonus cerebellar ataxia deafness	6.5
23	nonsyndromic hearing loss and deafness, mitochondrial	6.5
24	otof-related deafness	6.5
25	pendred syndrome	6.5
26	retinis pigmentosa deafness hypogenitalism	6.5
27	short stature deafness neutrophil dysfunction	6.5
28	arts syndrome	6.5
29	short stature microcephaly seizures deafness	6.5
30	autosomal dominant nonsyndromic deafness	6.5
31	autosomal recessive nonsyndromic deafness	6.5
32	townes-brocks syndrome	6.5
33	dfnx1 nonsyndromic hearing loss and deafness	6.4
34	dfnx1 (dfn2) nonsyndromic hearing loss and deafness	6.4
35	dfnx4 (dfn6) nonsyndromic hearing loss and deafness	6.4
36	auditory neuropathy	5.8
37	deafness, neurosensory nonsyndromic recessive, dfn	5.8
38	neuropathy	5.8
39	deafness hyperuricemia neurologic ataxia	4.4
40	deafness, autosomal dominant nonsyndromic sensorineural 24	4.4
41	dfna 6/14/38 nonsyndromic hearing loss and deafness	4.4
42	dfna50 nonsyndromic hearing loss and deafness	4.4
43	dfnb29 nonsyndromic hearing loss and deafness	4.4
44	deafness, autosomal recessive 25	4.4
45	deafness, autosomal recessive 63	4.4
46	deafness, autosomal dominant 36	4.4
47	deafness, cataract, retinitis pigmentosa, and sperm abnormalities	4.4
48	deafness, autosomal dominant 7	4.4
49	deafness, autosomal recessive 62	4.4
50	deafness, autosomal dominant 22	4.4

Clinical features from OMIM: 304400

Approved drugs:

Drug clinical trials:

Genes related to deafness, x-linked 2 according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	PRPS1	phosphoribosyl pyrophosphate synthetase 1	11.1	Aliases & Descriptions
2	POU3F4	POU class 3 homeobox 4	11.1