MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs: MVA2
Number of Symptoms 57
OrphanetNr:
OMIM Id: 614114
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000268) Dolichocephaly 2 of 4 [HPO:skoehler] 144 / 7739
2
 (HPO:0000347) Micrognathia 2 of 4 [HPO:skoehler] 426 / 7739
3
 (HPO:0009117) Aplasia/Hypoplasia of the maxilla 18 / 7739
4
 (HPO:0000275) Narrow face 76 / 7739
5
 (HPO:0002007) Frontal bossing 1 of 4 [HPO:skoehler] 366 / 7739
6
 (HPO:0000325) Triangular face 2 of 4 [HPO:skoehler] 91 / 7739
7
 (HPO:0003196) Short nose 2 of 4 [HPO:skoehler] 264 / 7739
8
 (HPO:0000490) Deeply set eye 1 of 4 [HPO:skoehler] 131 / 7739
9
 (HPO:0000494) Downslanted palpebral fissures 2 of 4 [HPO:skoehler] 328 / 7739
10
 (HPO:0000286) Epicanthus 3 of 4 [HPO:skoehler] 371 / 7739
11
 (HPO:0000581) Blepharophimosis 1 of 4 [HPO:skoehler] 197 / 7739
12
 (HPO:0000276) Long face 1 of 4 [HPO:skoehler] 109 / 7739
13
 (HPO:0005280) Depressed nasal bridge 2 of 4 [HPO:skoehler] 381 / 7739
14
 (HPO:0000929) Abnormality of the skull 53 / 7739
15
 (HPO:0000252) Microcephaly 832 / 7739
16
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
17
 (HPO:0000369) Low-set ears 2 of 4 [HPO:skoehler] 372 / 7739
18
 (HPO:0000368) Low-set, posteriorly rotated ears 38 / 7739
19
 (HPO:0000365) Hearing impairment 1 of 4 [HPO:skoehler] 539 / 7739
20
 (HPO:0010536) Central sleep apnea 4 / 7739
21
 (HPO:0001256) Intellectual disability, mild 1 of 4 [HPO:skoehler] 141 / 7739
22
 (HPO:0010535) Sleep apnea 1 of 4 [HPO:skoehler] 24 / 7739
23
 (HPO:0000821) Hypothyroidism 2 of 4 [HPO:skoehler] 141 / 7739
24
 (HPO:0000824) Growth hormone deficiency 1 of 4 [HPO:skoehler] 56 / 7739
25
 (HPO:0008191) Thyroid agenesis 11 / 7739
26
 (HPO:0002750) Delayed skeletal maturation 1 of 4 [HPO:skoehler] 250 / 7739
27
 (HPO:0001216) Delayed ossification of carpal bones 30 / 7739
28
 (HPO:0100867) Duodenal stenosis 29 / 7739
29
 (HPO:0002247) Duodenal atresia 1 of 4 [HPO:skoehler] 13 / 7739
30
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
31
 (HPO:0004322) Short stature 1232 / 7739
32
 (HPO:0001518) Small for gestational age 107 / 7739
33
 (HPO:0001510) Growth delay 295 / 7739
34
 (HPO:0200040) Epidermoid cyst occasional [HPO:skoehler] 35 / 7739
35
 (HPO:0000957) Cafe-au-lait spot 1 of 4 [HPO:skoehler] 84 / 7739
36
 (HPO:0007565) Multiple cafe-au-lait spots 11 / 7739
37
 (HPO:0007429) Few cafe-au-lait spots 7 / 7739
38
 (HPO:0001680) Coarctation of aorta 57 / 7739
39
 (HPO:0001631) Atria septal defect 274 / 7739
40
 (HPO:0001629) Ventricular septal defect 316 / 7739
41
 (HPO:0001659) Aortic regurgitation 36 / 7739
42
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
43
 (HPO:0001682) Subaortic stenosis 17 / 7739
44
 (HPO:0002101) Abnormal lung lobation 1 of 4 [HPO:skoehler] 33 / 7739
45
 (HPO:0001252) Muscular hypotonia occasional [HPO:skoehler] 990 / 7739
46
 (HPO:0010547) Muscle flaccidity 466 / 7739
47
 (HPO:0001324) Muscle weakness 859 / 7739
48
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
49
 (OMIM) Rhizomelic shortening of the upper limbs (in 2/4 patients) 1 / 7739
50
 (OMIM) Narrow head 2 / 7739
51
 (OMIM) Mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy (50%) affecting all chromosomes 1 / 7739
52
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
53
 (OMIM) Temporal bossing 2 / 7739
54
 (HPO:0012745) Short palpebral fissure occasional [HPO:skoehler] 47 / 7739
55
 (MedDRA:10058668) Clinodactyly 91 / 7739
56
 (OMIM) Chromosomal structural abnormalities 1 / 7739
57
 (HPO:0003812) Phenotypic variability 129 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Mosaic variegated aneuploidy syndrome is an autosomal recessive disorder characterized by poor growth and variable phenotypic manifestations, such as facial dysmorphism and congenital heart defects, associated with mosaic aneuploidies resulting from defects in cell division (summary by Snape ...
Clinical Description OMIM Lane et al. (2002) reported a 12-year-old boy with poor growth, short stature, microcephaly, mild cognitive defects, and mildly dysmorphic facial features. Cytogenetic analysis found 24% hyperdiploid chromosome numbers during metaphase, consistent with MVA. He had subclinical ventricular ...
Molecular genetics OMIM By exome sequencing, Snape et al. (2011) identified compound heterozygous mutations in the CEP57 gene (607951.0001 and 607951.0002) in 2 Mexican sibs with MVA and growth retardation (Garcia-Castillo et al., 2008). Subsequent molecular analysis of 18 patients from ...