2p21 microdeletion syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: CYSTINURIA WITH MITOCHONDRIAL DISEASE
2p21 deletion
Monosomy 2p21
Del(2)(p21)
HOMOZYGOUS 2p16 DELETION SYNDROME, FORMERLY HOMOZYGOUS 2p21 DELETION SYNDROME, INCLUDED
Number of Symptoms 58
OrphanetNr: 163693
OMIM Id: 606407
ICD-10: Q93.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 7 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Hypotonia - cystinuria type 1
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000815) Hypergonadotropic hypogonadism 48 / 7739
2
 (HPO:0000787) Nephrolithiasis Very frequent [Orphanet] 78 / 7739
3
 (HPO:0001992) Organic aciduria Frequent [Orphanet] 28 / 7739
4
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
5
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
6
 (HPO:0000527) Long eyelashes 46 / 7739
7
 (HPO:0010804) Tented upper lip vermilion 47 / 7739
8
 (HPO:0000499) Abnormality of the eyelashes Very frequent [Orphanet] 35 / 7739
9
 (HPO:0000268) Dolichocephaly 144 / 7739
10
 (HPO:0000929) Abnormality of the skull 53 / 7739
11
 (HPO:0011231) Prominent eyelashes 9 / 7739
12
 (HPO:0001488) Bilateral ptosis 42 / 7739
13
 (HPO:0000508) Ptosis 459 / 7739
14
 (HPO:0000368) Low-set, posteriorly rotated ears 38 / 7739
15
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
16
 (HPO:0000400) Macrotia 108 / 7739
17
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
18
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
19
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
20
 (HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
21
 (HPO:0000824) Growth hormone deficiency 56 / 7739
22
 (HPO:0006136) Bilateral postaxial polydactyly 30 / 7739
23
 (HPO:0001557) Prenatal movement abnormality Occasional [Orphanet] 16 / 7739
24
 (HPO:0001558) Decreased fetal movement 74 / 7739
25
 (HPO:0011968) Feeding difficulties 240 / 7739
26
 (HPO:0001510) Growth delay 295 / 7739
27
 (HPO:0001525) Severe failure to thrive 13 / 7739
28
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
29
 (HPO:0001508) Failure to thrive 454 / 7739
30
 (HPO:0003128) Lactic acidosis 116 / 7739
31
 (HPO:0002901) Hypocalcemia Frequent [Orphanet] 56 / 7739
32
 (HPO:0004337) Abnormality of amino acid metabolism Very frequent [Orphanet] 45 / 7739
33
 (HPO:0001943) Hypoglycemia Occasional [Orphanet] 131 / 7739
34
 (HPO:0003287) Abnormality of mitochondrial metabolism Very frequent [Orphanet] 12 / 7739
35
 (HPO:0001611) Nasal speech 48 / 7739
36
 (HPO:0003200) Ragged-red muscle fibers 37 / 7739
37
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
38
 (HPO:0010547) Muscle flaccidity 466 / 7739
39
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
40
 (HPO:0001324) Muscle weakness 859 / 7739
41
 (OMIM) No seizures 5 / 7739
42
 (OMIM) Seizures, neonatal (2p21del) 3 / 7739
43
 (OMIM) Normal lactate (HCS) 3 / 7739
44
 (OMIM) Normal mitochondrial respiratory chain complex I-V (HCS) 3 / 7739
45
 (OMIM) Almond-shaped eyes 12 / 7739
46
 (OMIM) Increased urinary cystine, arginine, lysine, and ornithine (HCS and 2p21del) 3 / 7739
47
 (OMIM) Decreased mitochondrial respiratory chain complex (2p21del) 3 / 7739
48
 (OMIM) Cystinuria, type I (HCS and 2p21del) 3 / 7739
49
 (OMIM) Postdates delivery (HCS) 3 / 7739
50
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
51
 (OMIM) Transient neonatal hypoglycemia (2p21del) 3 / 7739
52
 (OMIM) Rapid weight gain in late childhood (HCS) 3 / 7739
53
 (OMIM) Mental retardation, moderate-severe (2p21del) 4 / 7739
54
 (OMIM) Normal muscle fiber (HCS) 3 / 7739
55
 (OMIM) Transient neonatal hypocalcemia (2p21del) 3 / 7739
56
 (OMIM) Bladder cystine calculi (2p21del) 3 / 7739
57
 (OMIM) Developmental delay, severe 13 / 7739
58
 (OMIM) Hyperphagia in late childhood (HCS) 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Parvari et al. (2001) identified 4 male and 3 female patients from an extended, small Bedouin family who presented with an autosomal recessive syndrome consisting of cystinuria as well as neonatal seizures, hypotonia, severe somatic and developmental delay, ...
Molecular genetics OMIM In all affected patients of a Bedouin family with hypotonia-cystinuria syndrome, Parvari et al. (2001) identified a homozygous 179-kb deletion on chromosome 2p, including the SLC3A1, PPM1B, and PREPL genes. All parents were heterozygous for the deletion. The ...