MCID: 49X004
MIFTS: 14

49,xyyyy Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for 49,xyyyy Syndrome

Summaries for 49,xyyyy Syndrome

MalaCards based summary : 49,xyyyy Syndrome is related to synostosis. Affiliated tissues include testis, and related phenotypes are intellectual disability and scoliosis

Related Diseases for 49,xyyyy Syndrome

Diseases related to 49,xyyyy Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 synostosis 10.1

Symptoms & Phenotypes for 49,xyyyy Syndrome

Human phenotypes related to 49,xyyyy Syndrome:

58 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
3 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
4 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
5 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
6 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
7 recurrent upper respiratory tract infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002788
8 increased circulating gonadotropin level 58 31 hallmark (90%) Very frequent (99-80%) HP:0000837
9 cubitus valgus 58 31 hallmark (90%) Very frequent (99-80%) HP:0002967
10 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
11 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
12 azoospermia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000027
13 ventriculomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002119
14 radioulnar synostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002974
15 gynecomastia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000771
16 decreased testicular size 58 31 hallmark (90%) Very frequent (99-80%) HP:0008734
17 moderate global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011343
18 abnormality of the cerebral white matter 58 31 hallmark (90%) Very frequent (99-80%) HP:0002500
19 low frustration tolerance 58 31 hallmark (90%) Very frequent (99-80%) HP:0000744
20 male hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000026
21 impulsivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0100710
22 short 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009237
23 primary gonadal insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0008193
24 finger clinodactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0040019
25 eunuchoid habitus 58 31 hallmark (90%) Very frequent (99-80%) HP:0003782
26 decreased serum testosterone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0040171
27 abnormality of the epiphyses of the elbow 58 31 hallmark (90%) Very frequent (99-80%) HP:0003946
28 large carpal bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0004237
29 bridged palmar crease 58 31 hallmark (90%) Very frequent (99-80%) HP:0011310
30 hypotonia 31 hallmark (90%) HP:0001252
31 turricephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000262
32 lower limb asymmetry 58 31 occasional (7.5%) Occasional (29-5%) HP:0100559
33 large hands 58 31 occasional (7.5%) Occasional (29-5%) HP:0001176
34 trigonocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000243
35 developmental cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000519
36 generalized joint laxity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002761
37 lop ear 58 31 occasional (7.5%) Occasional (29-5%) HP:0000394
38 muscular hypotonia 58 Very frequent (99-80%)
39 global developmental delay 58 Very frequent (99-80%)
40 behavioral abnormality 58 Very frequent (99-80%)
41 abnormal facial shape 58 Very frequent (99-80%)
42 abnormality of the genitourinary system 58 Very frequent (99-80%)
43 external genital hypoplasia 58 Very frequent (99-80%)
44 abnormality of the testis size 58 Very frequent (99-80%)

Drugs & Therapeutics for 49,xyyyy Syndrome

Search Clinical Trials , NIH Clinical Center for 49,xyyyy Syndrome

Genetic Tests for 49,xyyyy Syndrome

Anatomical Context for 49,xyyyy Syndrome

MalaCards organs/tissues related to 49,xyyyy Syndrome:

40
Testis

Publications for 49,xyyyy Syndrome

Articles related to 49,xyyyy Syndrome:

# Title Authors PMID Year
1
Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature. 61
28137251 2017
2
[A 7-year-old boy with 49,XYYYY syndrome]. 61
3261145 1988
3
[The 49,XYYYY syndrome: apropos of a case detected at birth and followed for 2 1/2 years]. 61
6491641 1984

Variations for 49,xyyyy Syndrome

Expression for 49,xyyyy Syndrome

Search GEO for disease gene expression data for 49,xyyyy Syndrome.

Pathways for 49,xyyyy Syndrome

GO Terms for 49,xyyyy Syndrome

Sources for 49,xyyyy Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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