Atypical hypotonia - cystinuria syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: CYSTINURIA WITH MITOCHONDRIAL DISEASE
HOMOZYGOUS 2p16 DELETION SYNDROME, FORMERLY HOMOZYGOUS 2p21 DELETION SYNDROME, INCLUDED
Atypical HCS
Number of Symptoms 45
OrphanetNr: 238523
OMIM Id: 606407
ICD-10: E72.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
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 78 / 7739
2
 (HPO:0000815) Hypergonadotropic hypogonadism 48 / 7739
3
 (HPO:0000929) Abnormality of the skull 53 / 7739
4
 (HPO:0011231) Prominent eyelashes 9 / 7739
5
 (HPO:0002007) Frontal bossing 366 / 7739
6
 (HPO:0000268) Dolichocephaly 144 / 7739
7
 (HPO:0010804) Tented upper lip vermilion 47 / 7739
8
 (HPO:0000527) Long eyelashes 46 / 7739
9
 (HPO:0005280) Depressed nasal bridge 381 / 7739
10
 (HPO:0001488) Bilateral ptosis 42 / 7739
11
 (HPO:0000508) Ptosis 459 / 7739
12
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
13
 (HPO:0000368) Low-set, posteriorly rotated ears 38 / 7739
14
 (HPO:0000400) Macrotia 108 / 7739
15
 (HPO:0000824) Growth hormone deficiency 56 / 7739
16
 (HPO:0006136) Bilateral postaxial polydactyly 30 / 7739
17
 (HPO:0001558) Decreased fetal movement 74 / 7739
18
 (HPO:0011968) Feeding difficulties 240 / 7739
19
 (HPO:0001525) Severe failure to thrive 13 / 7739
20
 (HPO:0001508) Failure to thrive 454 / 7739
21
 (HPO:0001510) Growth delay 295 / 7739
22
 (HPO:0003128) Lactic acidosis 116 / 7739
23
 (HPO:0001611) Nasal speech 48 / 7739
24
 (HPO:0003200) Ragged-red muscle fibers 37 / 7739
25
 (HPO:0001252) Muscular hypotonia 990 / 7739
26
 (HPO:0010547) Muscle flaccidity 466 / 7739
27
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
28
 (HPO:0001324) Muscle weakness 859 / 7739
29
 (OMIM) Bladder cystine calculi (2p21del) 3 / 7739
30
 (OMIM) Transient neonatal hypoglycemia (2p21del) 3 / 7739
31
 (OMIM) Normal mitochondrial respiratory chain complex I-V (HCS) 3 / 7739
32
 (OMIM) No seizures 5 / 7739
33
 (OMIM) Postdates delivery (HCS) 3 / 7739
34
 (OMIM) Transient neonatal hypocalcemia (2p21del) 3 / 7739
35
 (OMIM) Hyperphagia in late childhood (HCS) 3 / 7739
36
 (OMIM) Normal muscle fiber (HCS) 3 / 7739
37
 (OMIM) Cystinuria, type I (HCS and 2p21del) 3 / 7739
38
 (OMIM) Decreased mitochondrial respiratory chain complex (2p21del) 3 / 7739
39
 (OMIM) Developmental delay, severe 13 / 7739
40
 (OMIM) Almond-shaped eyes 12 / 7739
41
 (OMIM) Rapid weight gain in late childhood (HCS) 3 / 7739
42
 (OMIM) Normal lactate (HCS) 3 / 7739
43
 (OMIM) Increased urinary cystine, arginine, lysine, and ornithine (HCS and 2p21del) 3 / 7739
44
 (OMIM) Mental retardation, moderate-severe (2p21del) 4 / 7739
45
 (OMIM) Seizures, neonatal (2p21del) 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 ...