ALDH18A1-related De Barsy syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: PROGEROID SYNDROME OF DE BARSY
DE BARSY SYNDROME A
ARCL3A
CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION
Neurocutaneous syndrome, Bicknell type
Delta-1-pyrroline 5-carboxylate synthetase deficiency
P5CS deficiency
Number of Symptoms 50
OrphanetNr: 35664
OMIM Id: 219150
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 32 cases [Orphanet]
Inheritance: Autosomal recessive
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: De Barsy syndrome
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease
 -Rare skin disease
 -Rare surgical thoracic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000248) Brachycephaly 222 / 7739
2
 (HPO:0000418) Narrow nasal ridge 15 / 7739
3
 (HPO:0010537) Wide cranial sutures 21 / 7739
4
 (HPO:0000239) Large fontanelles 135 / 7739
5
 (HPO:0011220) Prominent forehead 137 / 7739
6
 (HPO:0002645) Wormian bones 65 / 7739
7
 (HPO:0000160) Narrow mouth 188 / 7739
8
 (HPO:0000601) Hypotelorism 83 / 7739
9
 (HPO:0000316) Hypertelorism 644 / 7739
10
 (HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
11
 (HPO:0000545) Myopia 286 / 7739
12
 (HPO:0007957) Corneal opacity 84 / 7739
13
 (HPO:0000486) Strabismus 576 / 7739
14
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
15
 (HPO:0000369) Low-set ears 372 / 7739
16
 (HPO:0000400) Macrotia 108 / 7739
17
 (HPO:0002305) Athetosis 31 / 7739
18
 (HPO:0001263) Global developmental delay 853 / 7739
19
 (HPO:0001347) Hyperreflexia 363 / 7739
20
 (HPO:0001250) Seizures 1245 / 7739
21
 (HPO:0001762) Talipes equinovarus 309 / 7739
22
 (HPO:0001374) Congenital hip dislocation 51 / 7739
23
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
24
 (HPO:0002650) Scoliosis 705 / 7739
25
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
26
 (HPO:0001181) Adducted thumb 31 / 7739
27
 (HPO:0000767) Pectus excavatum 244 / 7739
28
 (HPO:0000023) Inguinal hernia 181 / 7739
29
 (HPO:0001537) Umbilical hernia 206 / 7739
30
 (HPO:0001508) Failure to thrive 454 / 7739
31
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
32
 (HPO:0000974) Hyperextensible skin Very frequent [Orphanet] 59 / 7739
33
 (HPO:0008070) Sparse hair 94 / 7739
34
 (HPO:0000973) Cutis laxa 43 / 7739
35
 (HPO:0001324) Muscle weakness 859 / 7739
36
 (HPO:0010547) Muscle flaccidity 466 / 7739
37
 (HPO:0001252) Muscular hypotonia 990 / 7739
38
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
39
 (OMIM) Thin or fragmented elastic fibers 1 / 7739
40
 (OMIM) Progeroid appearance 3 / 7739
41
 (MedDRA:10061991) Grimacing 4 / 7739
42
 (OMIM) Reduced number of elastic fibers 1 / 7739
43
 (OMIM) Hypoplastic alae 2 / 7739
44
 (OMIM) Thin, translucent skin 1 / 7739
45
 (OMIM) Degenerated elastic fibers 1 / 7739
46
 (OMIM) Poor growth, postnatal 8 / 7739
47
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
48
 (OMIM) Prominent superficial blood vessels due to thin skin 1 / 7739
49
 (OMIM) Clenched fists 1 / 7739
50
 (OMIM) Dislocated joints 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) De Barsy syndrome, or autosomal recessive cutis laxa type III (ARCL3), is characterized by cutis laxa, a progeria-like appearance, and ophthalmologic abnormalities (summary by Kivuva et al., 2008).

- Genetic Heterogeneity of De Barsy Syndrome ...
Clinical Description OMIM De Barsy et al. (1968) described a 22-month-old girl who had cutis laxa with defective development of elastic fibers in the skin. The corneas were cloudy due to degeneration in Bowman membrane. Psychomotor development was retarded and she ...
Molecular genetics OMIM In the 2 sibs described by Rabier et al. (1992), Baumgartner et al. (2000) identified a homozygous mutation in the ALDH18A1 gene (R84Q; 138250.0001). The mutation resulted in decreased enzymatic activity.

In affected individuals from a ...