Autosomal recessive cutis laxa type 1

General Information (adopted from Orphanet):

Synonyms, Signs: ARCL1
Autosomal recessive cutis laxa, pulmonary emphysema type
Autosomal recessive cutis laxa with severe systemic involvement
Number of Symptoms 46
OrphanetNr: 90349
OMIM Id: 219100
614437
ICD-10: Q82.8
UMLs: C0432336
MeSH:
MedDRA:
Snomed: 254222002

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: Cutis laxa
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare skin disease
 -Rare surgical thoracic disease
Rare disease with thoracic aortic aneurysm and aortic dissection
 -Rare circulatory system disease
 -Rare genetic disease
 -Rare surgical thoracic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000010) Recurrent urinary tract infections Very frequent [Orphanet] 56 / 7739
2
 (HPO:0000076) Vesicoureteral reflux Occasional [Orphanet] 94 / 7739
3
 (HPO:0000015) Bladder diverticulum Very frequent [Orphanet] 15 / 7739
4
 (HPO:0000239) Large fontanelles Frequent [Orphanet] 135 / 7739
5
 (HPO:0000271) Abnormality of the face 108 / 7739
6
 (HPO:0000293) Full cheeks Frequent [Orphanet] 85 / 7739
7
 (HPO:0002645) Wormian bones Occasional [Orphanet] 65 / 7739
8
 (HPO:0000252) Microcephaly 832 / 7739
9
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
10
 (HPO:0011442) Abnormality of central motor function Occasional [Orphanet] 76 / 7739
11
 (HPO:0000821) Hypothyroidism Occasional [Orphanet] 141 / 7739
12
 (HPO:0000767) Pectus excavatum 244 / 7739
13
 (HPO:0011302) Long palm Occasional [Orphanet] 70 / 7739
14
 (HPO:0001388) Joint laxity 117 / 7739
15
 (HPO:0001166) Arachnodactyly 62 / 7739
16
 (HPO:0002659) Increased susceptibility to fractures Occasional [Orphanet] 110 / 7739
17
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
18
 (HPO:0004349) Reduced bone mineral density Occasional [Orphanet] 165 / 7739
19
 (HPO:0001562) Oligohydramnios 75 / 7739
20
 (HPO:0002256) Small bowel diverticula Occasional [Orphanet] 6 / 7739
21
 (HPO:0000775) Abnormality of the diaphragm Very frequent [Orphanet] 62 / 7739
22
 (HPO:0005214) Intestinal obstruction Frequent [Orphanet] 35 / 7739
23
 (HPO:0000776) Congenital diaphragmatic hernia 36 / 7739
24
 (HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
25
 (HPO:0000023) Inguinal hernia 181 / 7739
26
 (HPO:0001537) Umbilical hernia 206 / 7739
27
 (HPO:0001548) Overgrowth 27 / 7739
28
 (HPO:0007495) Prematurely aged appearance Very frequent [Orphanet] 44 / 7739
29
 (HPO:0001582) Redundant skin Very frequent [Orphanet] 51 / 7739
30
 (HPO:0002616) Aortic root dilatation Frequent [Orphanet] 27 / 7739
31
 (HPO:0001626) Abnormality of the cardiovascular system Very frequent [Orphanet] 73 / 7739
32
 (HPO:0002631) Ascending aortic aneurysm 9 / 7739
33
 (HPO:0100545) Arterial stenosis Frequent [Orphanet] 22 / 7739
34
 (HPO:0004414) Abnormality of the pulmonary artery Occasional [Orphanet] 50 / 7739
35
 (HPO:0004948) Vascular tortuosity 5 / 7739
36
 (HPO:0002617) Aneurysm Frequent [Orphanet] 34 / 7739
37
 (HPO:0011675) Arrhythmia Occasional [Orphanet] 226 / 7739
38
 (HPO:0004381) Supravalvular aortic stenosis 6 / 7739
39
 (HPO:0001635) Congestive heart failure Occasional [Orphanet] 232 / 7739
40
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
41
 (HPO:0002097) Emphysema Very frequent [Orphanet] 40 / 7739
42
 (HPO:0002205) Recurrent respiratory infections 254 / 7739
43
 (HPO:0100750) Atelectasis Very frequent [Orphanet] 17 / 7739
44
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
45
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
46
 (HPO:0001425) Heterogeneous 132 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: