Hypotonia - cystinuria syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: CYSTINURIA WITH MITOCHONDRIAL DISEASE
HCS
HOMOZYGOUS 2p16 DELETION SYNDROME, FORMERLY HOMOZYGOUS 2p21 DELETION SYNDROME, INCLUDED
Number of Symptoms 60
OrphanetNr: 163690
OMIM Id: 606407
ICD-10: E72.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 22 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:0000787) Nephrolithiasis Very frequent [Orphanet] 78 / 7739
2
 (HPO:0000815) Hypergonadotropic hypogonadism 48 / 7739
3
 (HPO:0003131) Cystinuria 6 / 7739
4
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
5
 (HPO:0005280) Depressed nasal bridge 381 / 7739
6
 (HPO:0000929) Abnormality of the skull 53 / 7739
7
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
8
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
9
 (HPO:0011231) Prominent eyelashes 9 / 7739
10
 (HPO:0010804) Tented upper lip vermilion 47 / 7739
11
 (HPO:0000268) Dolichocephaly Very frequent [Orphanet] 144 / 7739
12
 (HPO:0000527) Long eyelashes 46 / 7739
13
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
14
 (HPO:0001488) Bilateral ptosis 42 / 7739
15
 (HPO:0000400) Macrotia 108 / 7739
16
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
17
 (HPO:0000368) Low-set, posteriorly rotated ears 38 / 7739
18
 (HPO:0002591) Polyphagia Very frequent [Orphanet] 25 / 7739
19
 (HPO:0011398) Central hypotonia 12 / 7739
20
 (HPO:0001263) Global developmental delay 853 / 7739
21
 (HPO:0010864) Intellectual disability, severe 120 / 7739
22
 (HPO:0000824) Growth hormone deficiency 56 / 7739
23
 (HPO:0006136) Bilateral postaxial polydactyly 30 / 7739
24
 (HPO:0001558) Decreased fetal movement 74 / 7739
25
 (HPO:0001557) Prenatal movement abnormality Very frequent [Orphanet] 16 / 7739
26
 (HPO:0011968) Feeding difficulties 240 / 7739
27
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
28
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
29
 (HPO:0001525) Severe failure to thrive 13 / 7739
30
 (HPO:0001508) Failure to thrive 454 / 7739
31
 (HPO:0001510) Growth delay 295 / 7739
32
 (HPO:0003128) Lactic acidosis 116 / 7739
33
 (HPO:0001998) Neonatal hypoglycemia 22 / 7739
34
 (HPO:0004337) Abnormality of amino acid metabolism Very frequent [Orphanet] 45 / 7739
35
 (HPO:0001611) Nasal speech 48 / 7739
36
 (HPO:0001608) Abnormality of the voice Very frequent [Orphanet] 126 / 7739
37
 (HPO:0003200) Ragged-red muscle fibers 37 / 7739
38
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
39
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
40
 (HPO:0010547) Muscle flaccidity 466 / 7739
41
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
42
 (OMIM) Increased urinary cystine, arginine, lysine, and ornithine (HCS and 2p21del) 3 / 7739
43
 (OMIM) Almond-shaped eyes 12 / 7739
44
 (OMIM) Normal mitochondrial respiratory chain complex I-V (HCS) 3 / 7739
45
 (OMIM) Transient neonatal hypocalcemia (2p21del) 3 / 7739
46
 (OMIM) Normal muscle fiber (HCS) 3 / 7739
47
 (OMIM) Decreased mitochondrial respiratory chain complex (2p21del) 3 / 7739
48
 (OMIM) Rapid weight gain in late childhood (HCS) 3 / 7739
49
 (OMIM) Seizures, neonatal (2p21del) 3 / 7739
50
 (OMIM) Postdates delivery (HCS) 3 / 7739
51
 (OMIM) Bladder cystine calculi (2p21del) 3 / 7739
52
 (OMIM) Mental retardation, moderate-severe (2p21del) 4 / 7739
53
 (OMIM) Transient neonatal hypoglycemia (2p21del) 3 / 7739
54
 (OMIM) Cystinuria, type I (HCS and 2p21del) 3 / 7739
55
 (HPO:0001466) Contiguous gene syndrome 8 / 7739
56
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
57
 (OMIM) Hyperphagia in late childhood (HCS) 3 / 7739
58
 (OMIM) Developmental delay, severe 13 / 7739
59
 (OMIM) Normal lactate (HCS) 3 / 7739
60
 (OMIM) No seizures 5 / 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 ...