MCID: 48X005
MIFTS: 39

48,xyyy

Categories: Fetal diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for 48,xyyy

Summaries for 48,xyyy

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 99329 Definition A rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability , large, irregular teeth with poor enamel, tall stature and acne. Radioulnar synostosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males. Visit the Orphanet disease page for more resources.

MalaCards based summary : 48,xyyy, also known as 48,xyyy syndrome, is related to radioulnar synostosis and hypogonadotropic hypogonadism. The drugs Progesterone and Ezetimibe have been mentioned in the context of this disorder. Affiliated tissues include testes, liver and lung, and related phenotypes are hypertelorism and short neck

Related Diseases for 48,xyyy

Diseases related to 48,xyyy via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 2, show less)
# Related Disease Score Top Affiliating Genes
1 radioulnar synostosis 10.2
2 hypogonadotropic hypogonadism 10.2

Symptoms & Phenotypes for 48,xyyy

Human phenotypes related to 48,xyyy:

58 31 (showing 31, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
3 high palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000218
4 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
5 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
6 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
7 pes planus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001763
8 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0011968
9 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
10 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
11 thick lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000179
12 recurrent upper respiratory tract infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002788
13 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
14 acne 58 31 hallmark (90%) Very frequent (99-80%) HP:0001061
15 abnormal dermatoglyphics 58 31 hallmark (90%) Very frequent (99-80%) HP:0007477
16 male hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000026
17 aggressive behavior 58 31 hallmark (90%) Very frequent (99-80%) HP:0000718
18 asthma 58 31 hallmark (90%) Very frequent (99-80%) HP:0002099
19 azoospermia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000027
20 radioulnar synostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002974
21 tall stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0000098
22 impulsivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0100710
23 abnormal renal morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0012210
24 primary gonadal insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0008193
25 dislocated radial head 58 31 hallmark (90%) Very frequent (99-80%) HP:0003083
26 hypoplasia of dental enamel 58 31 hallmark (90%) Very frequent (99-80%) HP:0006297
27 low frustration tolerance 58 31 hallmark (90%) Very frequent (99-80%) HP:0000744
28 irregularly spaced teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0006316
29 intellectual disability 58 Very frequent (99-80%)
30 behavioral abnormality 58 Very frequent (99-80%)
31 abnormality of the foot 58 Very frequent (99-80%)

Drugs & Therapeutics for 48,xyyy

Drugs for 48,xyyy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 1658, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
2
Ezetimibe Approved Phase 4 163222-33-1 150311
3
Amantadine Approved Phase 4 768-94-5 2130
4
Cefuroxime Approved Phase 4 55268-75-2 5479529 5361202
5
Digoxin Approved Phase 4 20830-75-5 30322 2724385
6
Acarbose Approved, Investigational Phase 4 56180-94-0 441184
7
Nepafenac Approved, Investigational Phase 4 78281-72-8 151075
8
Fluvoxamine Approved, Investigational Phase 4 54739-18-3 3404 5324346
9
Riociguat Approved Phase 4 625115-55-1
10
Diltiazem Approved, Investigational Phase 4 42399-41-7 39186
11
Fenoldopam Approved Phase 4 67227-57-0, 67227-56-9 3341
12
Lincomycin Approved, Vet_approved Phase 4 154-21-2 656509
13
Hexetidine Approved, Investigational Phase 4 141-94-6
14
Eleuthero Approved, Experimental Phase 4
15
Bosentan Approved, Investigational Phase 4 147536-97-8 104865
16
Eszopiclone Approved, Investigational Phase 4 138729-47-2 969472
17
Trimetazidine Approved, Investigational Phase 4 5011-34-7
18
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
19
Donepezil Approved Phase 4 120014-06-4 3152
20
Nifedipine Approved Phase 4 21829-25-4 4485
21
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
22
Zidovudine Approved Phase 4 30516-87-1 35370
23
Saw palmetto Approved, Experimental, Investigational Phase 4
24
Flurbiprofen Approved, Investigational Phase 4 5104-49-4 3394
25
Neomycin Approved, Vet_approved Phase 4 1404-04-2 8378
26
Eplerenone Approved Phase 4 107724-20-9 150310 443872
27
Norepinephrine Approved Phase 4 51-41-2 439260
28
Terlipressin Approved, Investigational Phase 4 14636-12-5 72081
29
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
30
Pamidronate Approved Phase 4 40391-99-9 4674
31
Omalizumab Approved, Investigational Phase 4 242138-07-4
32
Dalteparin Approved Phase 4 9005-49-6
33
Saquinavir Approved, Investigational Phase 4 127779-20-8 60787
34
Interferon beta-1a Approved, Investigational Phase 4 145258-61-3 6438354
35
Natalizumab Approved, Investigational Phase 4 189261-10-7
36
Orphenadrine Approved Phase 4 83-98-7 4601
37
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
38
Methocarbamol Approved, Vet_approved Phase 4 532-03-6 4107
39
Atorvastatin Approved Phase 4 134523-00-5 60823
40
Fosamprenavir Approved Phase 4 226700-79-4 131536
41
Etonogestrel Approved, Investigational Phase 4 54048-10-1 6917715 40976
42
Desogestrel Approved Phase 4 54024-22-5 40973
43
Tavaborole Approved, Investigational Phase 4 174671-46-6
44
Dezocine Approved, Investigational Phase 4 53648-55-8 40841 3033053
45
Nefopam Approved, Investigational Phase 4 13669-70-0
46
Salmon Calcitonin Approved, Investigational Phase 4 47931-85-1 16129616
47
chloroquine Approved, Investigational, Vet_approved Phase 4 54-05-7 2719
48
Etanercept Approved, Investigational Phase 4 185243-69-0
49
Prucalopride Approved Phase 4 179474-81-8
50
lanreotide Approved Phase 4 108736-35-2
51
Somatostatin Approved, Investigational Phase 4 51110-01-1, 38916-34-6 53481605
52
Amprenavir Approved, Investigational Phase 4 161814-49-9 65016
53
Atenolol Approved Phase 4 29122-68-7 2249
54
Irbesartan Approved, Investigational Phase 4 138402-11-6 3749
55 sodium fluoride Approved Phase 4 7681-49-4
56
Amlodipine Approved Phase 4 88150-42-9 2162
57
Fondaparinux Approved, Investigational Phase 4 104993-28-4
58
Peppermint oil Approved, Investigational Phase 4 8006-90-4
59
Tipranavir Approved, Investigational Phase 4 174484-41-4 65027
60
Lixisenatide Approved Phase 4 320367-13-3
61
Metoclopramide Approved, Investigational Phase 4 364-62-5 4168
62
Ephedrine Approved Phase 4 299-42-3 9294
63
Pseudoephedrine Approved Phase 4 90-82-4 7028
64
Daptomycin Approved, Investigational Phase 4 103060-53-3 16129629
65
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
66
Bisoprolol Approved Phase 4 66722-44-9 2405
67
Lumefantrine Approved Phase 4 82186-77-4 6437380
68
Artemether Approved Phase 4 71963-77-4 119380 68911
69
Piroxicam Approved, Investigational Phase 4 36322-90-4 54676228 5280452
70
Dorzolamide Approved Phase 4 120279-96-1 5284549 3154
71
Brinzolamide Approved Phase 4 138890-62-7 68844
72
Artesunate Approved, Investigational Phase 4 88495-63-0 5464098 6917864
73
Certolizumab pegol Approved Phase 4 428863-50-7
74
Lactulose Approved Phase 4 4618-18-2 11333
75
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
76
Iodine Approved, Investigational Phase 4 7553-56-2 807
77
Loperamide Approved Phase 4 53179-11-6 3955
78
Zalcitabine Approved, Investigational Phase 4 7481-89-2 24066
79
Terbutaline Approved Phase 4 23031-25-6 5403
80
Rabeprazole Approved, Investigational Phase 4 117976-89-3 5029
81
Sulfamethoxazole Approved Phase 4 723-46-6 5329
82
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
83
Amodiaquine Approved, Investigational Phase 4 86-42-0 2165
84
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
85
Nitrofurantoin Approved, Vet_approved Phase 4 67-20-9 5353830
86
Ondansetron Approved Phase 4 99614-02-5 4595
87
Bivalirudin Approved, Investigational Phase 4 128270-60-0 16129704
88
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
89
Norgestrel Approved Phase 4 6533-00-2 13109
90
Cyproterone Acetate Approved, Investigational Phase 4 427-51-0
91
Methylnaltrexone Approved Phase 4 83387-25-1, 916055-93-1 6603824
92
Micafungin Approved, Investigational Phase 4 235114-32-6 3081921 477468
93
Rivastigmine Approved, Investigational Phase 4 123441-03-2 77991
94
Atracurium Approved, Experimental, Investigational Phase 4 64228-79-1 47319
95
Enalapril Approved, Vet_approved Phase 4 75847-73-3 5362032 40466924
96
Enalaprilat Approved Phase 4 76420-72-9 6917719
97
Polidocanol Approved Phase 4 9002-92-0
98
Bisacodyl Approved Phase 4 603-50-9
99
Ramipril Approved Phase 4 87333-19-5 5362129
100
Quinapril Approved, Investigational Phase 4 85441-61-8 54892
101
Captopril Approved Phase 4 62571-86-2 44093
102
Lisinopril Approved, Investigational Phase 4 83915-83-7, 76547-98-3 5362119