PYCR1-related DeBarsy syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: DE BARSY SYNDROME B
ARCL3B
PYCR1 deficiency
Pyrroline-5-carboxylate reductase 1 deficiency
Number of Symptoms 21
OrphanetNr: 293633
OMIM Id: 614438
ICD-10: Q87.8
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: 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:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0000581) Blepharophimosis 197 / 7739
3
 (HPO:0000316) Hypertelorism 644 / 7739
4
 (HPO:0000418) Narrow nasal ridge 15 / 7739
5
 (HPO:0011220) Prominent forehead 137 / 7739
6
 (HPO:0000233) Thin vermilion border 124 / 7739
7
 (HPO:0000239) Large fontanelles 135 / 7739
8
 (HPO:0001087) Congenital glaucoma 12 / 7739
9
 (HPO:0000592) Blue sclerae 85 / 7739
10
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
11
 (HPO:0001249) Intellectual disability 1089 / 7739
12
 (HPO:0000750) Delayed speech and language development 197 / 7739
13
 (HPO:0002987) Elbow flexion contracture 64 / 7739
14
 (HPO:0000023) Inguinal hernia 181 / 7739
15
 (HPO:0000973) Cutis laxa 43 / 7739
16
 (HPO:0008070) Sparse hair 94 / 7739
17
 (HPO:0000963) Thin skin 96 / 7739
18
 (HPO:0010648) Dermal translucency 6 / 7739
19
 (HPO:0007392) Excessive wrinkled skin 2 / 7739
20
 (HPO:0002213) Fine hair 77 / 7739
21
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) De Barsy syndrome, also known as autosomal recessive cutis laxa type III (ARCL3), is a rare autosomal recessive disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation (IUGR), and cutis ...
Clinical Description OMIM Lin et al. (2011) identified a patient with De Barsy syndrome from a nonconsanguineous Chinese family whose birth weight (2.4 kg) and length (42 cm) were both below the third centile. At birth he had wide fontanels, prominent ...
Molecular genetics OMIM In 2 families with clinical features of De Barsy syndrome, one of which was described by Kunze et al. (1985), Reversade et al. (2009) sequenced the PYCR1 gene and identified homozygosity for mutations in the PYCR1 gene (179035.0009, ...