Aliases & Classifications for Recombinant 8 Syndrome

Summaries for Recombinant 8 Syndrome

Genetics Home Reference : 25 Recombinant 8 syndrome is a condition that involves heart and urinary tract abnormalities, moderate to severe intellectual disability, and a distinctive facial appearance. The characteristic facial features include a wide, square face; a thin upper lip; a downturned mouth; a small chin (micrognathia); wide-set eyes (hypertelorism); and low-set or unusually shaped ears. People with recombinant 8 syndrome may have overgrowth of the gums (gingival hyperplasia) and abnormal tooth development. Males with this condition frequently have undescended testes (cryptorchidism). Some affected individuals have recurrent ear infections (otitis media) or hearing loss. Many children with recombinant 8 syndrome do not survive past early childhood, usually due to complications related to their heart abnormalities.

MalaCards based summary : Recombinant 8 Syndrome, also known as recombinant chromosome 8 syndrome, is related to recombinant chromosome 8 syndrome and scoliosis, and has symptoms including seizures Affiliated tissues include eye, heart and testes, and related phenotypes are intellectual disability and global developmental delay

Related Diseases for Recombinant 8 Syndrome

Diseases related to Recombinant 8 Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 recombinant chromosome 8 syndrome 11.7
2 scoliosis 10.2
3 double outlet right ventricle 10.2
4 chromosomal triplication 10.2
5 chromosome 8p deletion 10.2
6 chromosome 8q duplication 10.2
7 spasticity 9.7
8 partial deletion of chromosome 8 9.7

Graphical network of the top 20 diseases related to Recombinant 8 Syndrome:



Diseases related to Recombinant 8 Syndrome

Symptoms & Phenotypes for Recombinant 8 Syndrome

Human phenotypes related to Recombinant 8 Syndrome:

31 (show all 38)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 hallmark (90%) HP:0001249
2 global developmental delay 31 hallmark (90%) HP:0001263
3 hypertelorism 31 hallmark (90%) HP:0000316
4 abnormality of the dentition 31 hallmark (90%) HP:0000164
5 large face 31 hallmark (90%) HP:0100729
6 anteverted nares 31 hallmark (90%) HP:0000463
7 cryptorchidism 31 hallmark (90%) HP:0000028
8 micrognathia 31 hallmark (90%) HP:0000347
9 low posterior hairline 31 hallmark (90%) HP:0002162
10 downturned corners of mouth 31 hallmark (90%) HP:0002714
11 redundant skin 31 hallmark (90%) HP:0001582
12 deep plantar creases 31 hallmark (90%) HP:0001869
13 hearing impairment 31 frequent (33%) HP:0000365
14 depressed nasal bridge 31 frequent (33%) HP:0005280
15 gingival overgrowth 31 frequent (33%) HP:0000212
16 chronic otitis media 31 frequent (33%) HP:0000389
17 scoliosis 31 frequent (33%) HP:0002650
18 thick vermilion border 31 frequent (33%) HP:0012471
19 spasticity 31 frequent (33%) HP:0001257
20 low-set ears 31 frequent (33%) HP:0000369
21 pectus excavatum 31 frequent (33%) HP:0000767
22 atrial septal defect 31 frequent (33%) HP:0001631
23 clinodactyly of the 5th finger 31 frequent (33%) HP:0004209
24 bilateral single transverse palmar creases 31 frequent (33%) HP:0007598
25 tetralogy of fallot 31 frequent (33%) HP:0001636
26 patent ductus arteriosus 31 frequent (33%) HP:0001643
27 ventricular septal defect 31 frequent (33%) HP:0001629
28 abnormality of the kidney 31 frequent (33%) HP:0000077
29 camptodactyly of finger 31 frequent (33%) HP:0100490
30 pulmonary artery stenosis 31 frequent (33%) HP:0004415
31 abnormal oral frenulum morphology 31 frequent (33%) HP:0000190
32 scrotal hypoplasia 31 frequent (33%) HP:0000046
33 patellar aplasia 31 frequent (33%) HP:0006443
34 seizure 31 frequent (33%) HP:0001250
35 cleft palate 31 occasional (7.5%) HP:0000175
36 abnormality of the anus 31 occasional (7.5%) HP:0004378
37 cleft upper lip 31 occasional (7.5%) HP:0000204
38 abnormality of vision 31 occasional (7.5%) HP:0000504

UMLS symptoms related to Recombinant 8 Syndrome:


seizures

Drugs & Therapeutics for Recombinant 8 Syndrome

Search Clinical Trials , NIH Clinical Center for Recombinant 8 Syndrome

Genetic Tests for Recombinant 8 Syndrome

Anatomical Context for Recombinant 8 Syndrome

MalaCards organs/tissues related to Recombinant 8 Syndrome:

40
Eye, Heart, Testes, Kidney, Skin

Publications for Recombinant 8 Syndrome

Articles related to Recombinant 8 Syndrome:

# Title Authors PMID Year
1
Postnatal diagnosis of de novo complex der(8) in a boy with prenatal diagnosis of recombinant chromosome 8 syndrome. 61
31110711 2019
2
Neuroimaging Features of San Luis Valley Syndrome. 61
26425383 2015
3
Revisiting recombinant 8 syndrome. 61
21739594 2011
4
Cloning, sequencing, and analysis of inv8 chromosome breakpoints associated with recombinant 8 syndrome. 61
10712224 2000
5
Natural history of the recombinant (8) syndrome. 61
8256815 1993
6
Recombinant 8 syndrome: the pool of Hispanic pericentric inversion 8 carriers expands numerically and geographically. 61
1957873 1991
7
Review of radiologic and clinical findings in the recombinant 8 syndrome. 61
2027712 1991
8
Genetic risk for recombinant 8 syndrome and the transmission rate of balanced inversion 8 in the Hispanic population of the southwestern United States. 61
3687942 1987
9
Clinicopathologic and dysmorphic findings in recombinant chromosome 8 syndrome. 61
6490002 1984

Variations for Recombinant 8 Syndrome

Expression for Recombinant 8 Syndrome

Search GEO for disease gene expression data for Recombinant 8 Syndrome.

Pathways for Recombinant 8 Syndrome

GO Terms for Recombinant 8 Syndrome

Sources for Recombinant 8 Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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