ARCL2E
MCID: CTS048
MIFTS: 31

Cutis Laxa, Autosomal Recessive, Type Iie (ARCL2E)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases
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Aliases & Classifications for Cutis Laxa, Autosomal Recessive, Type Iie

MalaCards integrated aliases for Cutis Laxa, Autosomal Recessive, Type Iie:

Name: Cutis Laxa, Autosomal Recessive, Type Iie 57 73
Arcl2e 57 73
Cutis Laxa with Joint Laxity and Developmental Delay 58
Cutis Laxa, Autosomal Recessive, Type 2e 5
Autosomal Recessive Cutis Laxa Type 2 58
Cutis Laxa, Autosomal Recessive, 2e 73
Arcl2 58

Characteristics:


Inheritance:

Cutis Laxa, Autosomal Recessive, Type Iie: Autosomal recessive 57
Autosomal Recessive Cutis Laxa Type 2: Autosomal recessive 58

Prevelance:

Autosomal Recessive Cutis Laxa Type 2: <1/1000000 (Worldwide) 58

Age Of Onset:

Autosomal Recessive Cutis Laxa Type 2: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
diagnosis in infancy


Classifications:

Orphanet: 58  
Rare bone diseases
Rare skin diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Cutis Laxa, Autosomal Recessive, Type Iie

OMIM®: 57 Autosomal recessive cutis laxa type IIE (ARCL2E) is characterized by connective tissue features, including generalized cutis laxa and inguinal hernia, craniofacial dysmorphology, variable mild heart defects, and prominent skeletal features, including craniosynostosis, short stature, brachydactyly, clinodactyly, and syndactyly (Pottie et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100). (619451) (Updated 08-Dec-2022)

MalaCards based summary: Cutis Laxa, Autosomal Recessive, Type Iie, also known as arcl2e, is related to cutis laxa, autosomal recessive, type iia and cutis laxa, autosomal recessive, type iib. An important gene associated with Cutis Laxa, Autosomal Recessive, Type Iie is LTBP1 (Latent Transforming Growth Factor Beta Binding Protein 1). Affiliated tissues include skin, bone and heart, and related phenotypes are scoliosis and high palate

UniProtKB/Swiss-Prot: 73 A form of cutis laxa, a disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, and a general connective tissue weakness. ARCL2E patients present with cutis laxa, inguinal hernia, craniofacial dysmorphology, variable heart defects, and prominent skeletal features including craniosynostosis, short stature, brachydactyly, and syndactyly.

Orphanet: 58 A spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic autosomal recessive cutis laxa type 2 (ARCL2, Debré type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS).

Related Diseases for Cutis Laxa, Autosomal Recessive, Type Iie

Graphical network of the top 20 diseases related to Cutis Laxa, Autosomal Recessive, Type Iie:



Diseases related to Cutis Laxa, Autosomal Recessive, Type Iie

Symptoms & Phenotypes for Cutis Laxa, Autosomal Recessive, Type Iie

Human phenotypes related to Cutis Laxa, Autosomal Recessive, Type Iie:

30 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 30 Very rare (1%) HP:0002650
2 high palate 30 Very rare (1%) HP:0000218
3 coarse facial features 30 Very rare (1%) HP:0000280
4 hearing impairment 30 Very rare (1%) HP:0000365
5 inguinal hernia 30 Very rare (1%) HP:0000023
6 wide nasal bridge 30 Very rare (1%) HP:0000431
7 short stature 30 Very rare (1%) HP:0004322
8 thick lower lip vermilion 30 Very rare (1%) HP:0000179
9 ovoid vertebral bodies 30 Very rare (1%) HP:0003300
10 short thorax 30 Very rare (1%) HP:0010306
11 specific learning disability 30 Very rare (1%) HP:0001328
12 pectus excavatum 30 Very rare (1%) HP:0000767
13 joint laxity 30 Very rare (1%) HP:0001388
14 downslanted palpebral fissures 30 Very rare (1%) HP:0000494
15 brachydactyly 30 Very rare (1%) HP:0001156
16 clinodactyly of the 5th finger 30 Very rare (1%) HP:0004209
17 highly arched eyebrow 30 Very rare (1%) HP:0002553
18 long philtrum 30 Very rare (1%) HP:0000343
19 hip dislocation 30 Very rare (1%) HP:0002827
20 proptosis 30 Very rare (1%) HP:0000520
21 craniosynostosis 30 Very rare (1%) HP:0001363
22 convex nasal ridge 30 Very rare (1%) HP:0000444
23 genu varum 30 Very rare (1%) HP:0002970
24 long eyelashes 30 Very rare (1%) HP:0000527
25 feeding difficulties 30 Very rare (1%) HP:0011968
26 lumbar hyperlordosis 30 Very rare (1%) HP:0002938
27 deep palmar crease 30 Very rare (1%) HP:0006191
28 cutis laxa 30 Very rare (1%) HP:0000973
29 broad nasal tip 30 Very rare (1%) HP:0000455
30 syndactyly 30 Very rare (1%) HP:0001159
31 prominent nasolabial fold 30 Very rare (1%) HP:0005272
32 premature sagging cheeks 30 Very rare (1%) HP:0034273
33 copper beaten skull 30 Very rare (1%) HP:0034271

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
ptosis
prominent supraorbital ridges
strabismus
proptosis
synophrys
more
Head And Neck Nose:
wide nasal bridge
prominent nasal bridge
convex nasal ridge
prominent nose
broad tip

Growth Height:
short stature

Skeletal Hands:
brachydactyly
fifth-finger clinodactyly

Head And Neck Ears:
prominent ears
hearing loss, conductive or mixed
large earlobes

Skin Nails Hair Skin:
deep palmar creases
cutis laxa, mild generalized

Skeletal Spine:
scoliosis (in some patients)

Chest Diaphragm:
diaphragmatic hernia (rare)

Skeletal Skull:
craniosynostosis, variable sutures
beaten-copper appearance of skull

Abdomen External Features:
inguinal hernia
distended abdomen
prune belly (in some patients)

Head And Neck Face:
smooth philtrum
prominent forehead
retrognathia
micrognathia
long face
more
Head And Neck Mouth:
thick lower lip vermilion
high-arched palate
cleft palate (in some patients)

Neurologic Central Nervous System:
developmental delay
impaired intellectual development (in some patients)
neuromotor delay (in some patients)
third and fourth cranial nerve palsy (in some patients)

Skeletal:
joint hyperlaxity
osteopenia (in some patients)

Abdomen Gastrointestinal:
feeding problems

Cardiovascular Heart:
atrial septal defect (rare)
mitral valve prolapse (rare)
tricuspid valve prolapse (rare)
mild concentric left ventricular hypertrophy (rare)
mild right ventricular volume overload (rare)

Skeletal Limbs:
genua vara

Skeletal Feet:
syndactyly, variable toes

Clinical features from OMIM®:

619451 (Updated 08-Dec-2022)

Drugs & Therapeutics for Cutis Laxa, Autosomal Recessive, Type Iie

Search Clinical Trials, NIH Clinical Center for Cutis Laxa, Autosomal Recessive, Type Iie

Genetic Tests for Cutis Laxa, Autosomal Recessive, Type Iie

Anatomical Context for Cutis Laxa, Autosomal Recessive, Type Iie

Organs/tissues related to Cutis Laxa, Autosomal Recessive, Type Iie:

MalaCards : Skin, Bone, Heart

Publications for Cutis Laxa, Autosomal Recessive, Type Iie

Articles related to Cutis Laxa, Autosomal Recessive, Type Iie:

(show all 12)
# Title Authors PMID Year
1
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome. 57 5
33991472 2021
2
Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa. 62
33320377 2021
3
Impaired ATP6V0A2 expression contributes to Golgi dispersion and glycosylation changes in senescent cells. 62
26611489 2015
4
Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report. 62
26516448 2015
5
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa. 62
23963297 2014
6
Mutations in PYCR1 gene in three families with autosomal recessive cutis laxa, type 2. 62
23531708 2013
7
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. 62
22773132 2012
8
Mass spectrometry of apolipoprotein C-III, a simple analytical method for mucin-type O-glycosylation and its application to an autosomal recessive cutis laxa type-2 (ARCL2) patient. 62
22611120 2012
9
The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2. 62
21204221 2011
10
NeCl2 and ArCl2: transition from direct vibrational predissociation to intramolecular vibrational relaxation and electronic nonadiabatic effects. 62
19754050 2010
11
Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2. 62
19576563 2009
12
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. 62
19321599 2009

Variations for Cutis Laxa, Autosomal Recessive, Type Iie

ClinVar genetic disease variations for Cutis Laxa, Autosomal Recessive, Type Iie:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LTBP1 NM_206943.4(LTBP1):c.4844del (p.Asn1615fs) DEL Pathogenic
1184249 GRCh37: 2:33622207-33622207
GRCh38: 2:33397140-33397140
2 LTBP1 NM_206943.4(LTBP1):c.4431T>A (p.Cys1477Ter) SNV Pathogenic
1184250 GRCh37: 2:33589314-33589314
GRCh38: 2:33364247-33364247
3 LTBP1 NM_206943.4(LTBP1):c.3991dup (p.Thr1331fs) DUP Pathogenic
1344546 GRCh37: 2:33572567-33572568
GRCh38: 2:33347500-33347501
4 LTBP1 NM_206943.4(LTBP1):c.1342C>T (p.Gln448Ter) SNV Likely Pathogenic
1184252 GRCh37: 2:33412063-33412063
GRCh38: 2:33186996-33186996
5 LTBP1 NM_206943.4(LTBP1):c.4793_4794del (p.Glu1598fs) DEL Likely Pathogenic
1320250 GRCh37: 2:33614332-33614333
GRCh38: 2:33389265-33389266

Expression for Cutis Laxa, Autosomal Recessive, Type Iie

Search GEO for disease gene expression data for Cutis Laxa, Autosomal Recessive, Type Iie.

Pathways for Cutis Laxa, Autosomal Recessive, Type Iie

GO Terms for Cutis Laxa, Autosomal Recessive, Type Iie

Sources for Cutis Laxa, Autosomal Recessive, Type Iie

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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