ARCL3A
MCID: CTS029
MIFTS: 54

Cutis Laxa, Autosomal Recessive, Type Iiia (ARCL3A)

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, Skin diseases

Aliases & Classifications for Cutis Laxa, Autosomal Recessive, Type Iiia

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

Name: Cutis Laxa, Autosomal Recessive, Type Iiia 56 13 39
De Barsy Syndrome a 56 12 73
De Barsy Syndrome 73 39 71
Arcl3a 56 12 73
Autosomal Recessive Cutis Laxa Type Iiia 12 15
Progeroid Syndrome of De Barsy 56 73
Mental Retardation Joint Hypermobility and Skin Laxity with or Without Metabolic Abnormalities 73
Developmental Delay-Choreoathetosis-Joint Dislocation-Lax Skin 73
Delta-1-Pyrroline 5-Carboxylate Synthetase Deficiency 58
Cutis Laxa, Corneal Clouding, and Mental Retardation 56
Cutis Laxa Corneal Clouding and Mental Retardation 73
Cutis Laxa Corneal Clouding Mental Retardation 74
Cutis Laxa Autosomal Recessive Type Iiia 73
Neurocutaneous Syndrome, Bicknell Type 58
Neurocutaneous Syndrome Bicknell Type 73
Cutis Laxa, Autosomal Recessive, 3a 73
Aldh18a1-Related De Barsy Syndrome 58
Progeroid Syndrome De Barsy Type 74
P5cs Deficiency 58
Corneal Opacity 43

Characteristics:

Orphanet epidemiological data:

58
aldh18a1-related de barsy syndrome
Inheritance: Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
cutis laxa, autosomal recessive, type iiia:
Inheritance autosomal recessive inheritance sporadic


Classifications:

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


Summaries for Cutis Laxa, Autosomal Recessive, Type Iiia

UniProtKB/Swiss-Prot : 73 Cutis laxa, autosomal recessive, 3A: A syndrome characterized by facial dysmorphism with a progeroid appearance, large and late-closing fontanel, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit, developmental delay, and ophthalmologic abnormalities.

MalaCards based summary : Cutis Laxa, Autosomal Recessive, Type Iiia, also known as de barsy syndrome a, is related to cutis laxa, autosomal recessive, type iiib and autosomal recessive cutis laxa type i, and has symptoms including seizures, athetosis and grimacing. An important gene associated with Cutis Laxa, Autosomal Recessive, Type Iiia is ALDH18A1 (Aldehyde Dehydrogenase 18 Family Member A1), and among its related pathways/superpathways are Carbon metabolism and Amino Acid metabolism. The drugs Loteprednol and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and bone, and related phenotypes are intellectual disability and cataract

Disease Ontology : 12 A autosomal recessive cutis laxa type III that has material basis in homozygous mutation in the ALDH18A1 gene on chromosome 10q24.

OMIM : 56 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). For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see 219100. (219150)

Wikipedia : 74 De Barsy syndrome is a rare autosomal recessive genetic disorder. Symptoms include cutis laxa (loose... more...

Related Diseases for Cutis Laxa, Autosomal Recessive, Type Iiia

Diseases in the Cutis Laxa family:

Cutis Laxa, Autosomal Dominant 1 Cutis Laxa, Autosomal Recessive, Type Ia
Cutis Laxa, Autosomal Recessive, Type Iiia Cutis Laxa, Autosomal Recessive, Type Iia
Cutis Laxa, Autosomal Recessive, Type Iib Cutis Laxa, Autosomal Recessive, Type Ic
Cutis Laxa, Autosomal Dominant 2 Cutis Laxa, Autosomal Recessive, Type Ib
Cutis Laxa, Autosomal Recessive, Type Iiib Cutis Laxa, Autosomal Dominant 3
Cutis Laxa, Autosomal Recessive, Type Iic Cutis Laxa, Autosomal Recessive, Type Iid
Autosomal Recessive Cutis Laxa Type Iii Autosomal Recessive Cutis Laxa Type I
Atp6v0a2-Related Cutis Laxa Efemp2-Related Cutis Laxa
Fbln5-Related Cutis Laxa Ltbp4-Related Cutis Laxa
Acquired Cutis Laxa Autosomal Recessive Cutis Laxa Type 2

Diseases related to Cutis Laxa, Autosomal Recessive, Type Iiia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 279)
# Related Disease Score Top Affiliating Genes
1 cutis laxa, autosomal recessive, type iiib 32.1 PYCR1 LTBP4 GORAB ALDH18A1
2 autosomal recessive cutis laxa type i 31.1 LTBP4 GORAB ALDH18A1
3 cutis laxa, autosomal recessive, type iia 31.0 PYCR1 LTBP4 GORAB ALDH18A1
4 cutis laxa, autosomal recessive, type ia 30.5 PYCR1 LTBP4 GORAB ALDH18A1
5 geroderma osteodysplasticum 29.6 PYCR1 GORAB
6 autosomal recessive cutis laxa type iii 29.0 PYCR1 LTBP4 GORAB ALDH18A1
7 cutis laxa 28.8 PYCR1 LTBP4 GORAB ALDH18A1
8 congenital corneal opacities, cornea guttata, and corectopia 12.6
9 obsolete: hemihypertrophy-intestinal web-corneal opacity syndrome 12.4
10 obsolete: metabolic disease with corneal opacity 12.4
11 hypoalphalipoproteinemia, primary, 2 11.8
12 peters-plus syndrome 11.8
13 fabry disease 11.8
14 anterior segment dysgenesis 7 11.7
15 mental retardation syndrome, mietens-weber type 11.7
16 cutis laxa, autosomal dominant 1 11.7
17 macular dystrophy, corneal 11.7
18 lecithin:cholesterol acyltransferase deficiency 11.7
19 fish-eye disease 11.6
20 microphthalmia 11.6
21 branchiootic syndrome 1 11.5
22 granular corneal dystrophy 11.5
23 arcus corneae 11.5
24 familial lcat deficiency 11.5
25 multicentric osteolysis, nodulosis, and arthropathy 11.5
26 anterior segment dysgenesis 1 11.4
27 winchester syndrome 11.4
28 brachymesomelia-renal syndrome 11.4
29 corneal dystrophy, thiel-behnke type 11.4
30 corneal hypesthesia, familial 11.2
31 ophthalmomandibulomelic dysplasia 11.2
32 gillespie syndrome 11.2
33 morquio syndrome c 11.2
34 mucolipidosis iv 11.2
35 roberts syndrome 11.2
36 spinocerebellar degeneration and corneal dystrophy 11.2
37 brachyolmia type 1, hobaek type 11.2
38 otopalatodigital syndrome, type ii 11.2
39 linear skin defects with multiple congenital anomalies 1 11.2
40 gomez-lopez-hernandez syndrome 11.2
41 ichthyosis, congenital, autosomal recessive 11 11.2
42 hurler syndrome 11.2
43 hurler-scheie syndrome 11.2
44 corneal dystrophy, reis-bucklers type 11.2
45 kanzaki disease 11.2
46 edict syndrome 11.2
47 anterior segment dysgenesis 6 11.2
48 brachyolmia 11.2
49 keratitis, hereditary 10.6
50 sclerocornea, autosomal dominant 10.5

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



Diseases related to Cutis Laxa, Autosomal Recessive, Type Iiia

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

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

58 31 (show top 50) (show all 84)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 cataract 58 31 frequent (33%) Very frequent (99-80%) HP:0000518
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 joint hyperflexibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005692
5 hyperextensible skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000974
6 hypertelorism 31 hallmark (90%) HP:0000316
7 low-set ears 31 hallmark (90%) HP:0000369
8 pectus excavatum 31 hallmark (90%) HP:0000767
9 hyperreflexia 31 hallmark (90%) HP:0001347
10 failure to thrive 31 hallmark (90%) HP:0001508
11 high palate 31 hallmark (90%) HP:0000218
12 osteopenia 31 hallmark (90%) HP:0000938
13 delayed skeletal maturation 31 hallmark (90%) HP:0002750
14 corneal opacity 31 hallmark (90%) HP:0007957
15 inguinal hernia 31 hallmark (90%) HP:0000023
16 delayed speech and language development 31 hallmark (90%) HP:0000750
17 umbilical hernia 31 hallmark (90%) HP:0001537
18 short stature 31 hallmark (90%) HP:0004322
19 downslanted palpebral fissures 31 hallmark (90%) HP:0000494
20 intrauterine growth retardation 31 hallmark (90%) HP:0001511
21 decreased muscle mass 31 hallmark (90%) HP:0003199
22 brachycephaly 31 hallmark (90%) HP:0000248
23 prominent forehead 31 hallmark (90%) HP:0011220
24 delayed eruption of teeth 31 hallmark (90%) HP:0000684
25 epicanthus 31 hallmark (90%) HP:0000286
26 thin skin 31 hallmark (90%) HP:0000963
27 wormian bones 31 hallmark (90%) HP:0002645
28 narrow mouth 31 hallmark (90%) HP:0000160
29 postnatal growth retardation 31 hallmark (90%) HP:0008897
30 lipodystrophy 31 hallmark (90%) HP:0009125
31 congenital hip dislocation 31 hallmark (90%) HP:0001374
32 talipes equinovarus 31 hallmark (90%) HP:0001762
33 kyphoscoliosis 31 hallmark (90%) HP:0002751
34 deeply set eye 31 hallmark (90%) HP:0000490
35 infantile muscular hypotonia 31 hallmark (90%) HP:0008947
36 nasal speech 31 hallmark (90%) HP:0001611
37 decreased fetal movement 31 hallmark (90%) HP:0001558
38 adducted thumb 31 hallmark (90%) HP:0001181
39 coxa vara 31 hallmark (90%) HP:0002812
40 large earlobe 31 hallmark (90%) HP:0009748
41 sparse hair 31 hallmark (90%) HP:0008070
42 athetosis 31 hallmark (90%) HP:0002305
43 recurrent sinopulmonary infections 31 hallmark (90%) HP:0005425
44 high myopia 31 hallmark (90%) HP:0011003
45 generalized joint laxity 31 hallmark (90%) HP:0002761
46 dermal translucency 31 hallmark (90%) HP:0010648
47 cutis laxa 31 hallmark (90%) HP:0000973
48 delayed closure of the anterior fontanelle 31 hallmark (90%) HP:0001476
49 progressive microcephaly 31 hallmark (90%) HP:0000253
50 premature rupture of membranes 31 hallmark (90%) HP:0001788

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
strabismus
myopia
hypotelorism
cataracts
more
Chest External Features:
pectus excavatum

Growth Other:
failure to thrive
poor postnatal growth
intrauterine growth retardation (iugr)

Abdomen External Features:
inguinal hernia
umbilical hernia

Skeletal Skull:
wormian bones
wide cranial sutures

Skeletal Feet:
talipes equinovarus
pes calcaneovalgus

Skin Nails Hair Skin:
cutis laxa
thin, translucent skin
prominent superficial blood vessels due to thin skin

Skeletal:
delayed bone age
hyperextensible joints
dislocated joints

Head And Neck Nose:
hypoplastic alae
pinched nose

Genitourinary Internal Genitalia Male:
undescended testes (in some patients)

Muscle Soft Tissue:
abnormal fat pad, buttocks and upper thighs (in some patients)

Head And Neck Ears:
low-set ears
large ears

Neurologic Central Nervous System:
seizures
hyperreflexia
grimacing
developmental delay
hypotonia
more
Skeletal Spine:
scoliosis

Head And Neck Head:
brachycephaly
prominent forehead
large fontanelles

Skeletal Pelvis:
congenital hip dislocation

Skin Nails Hair Hair:
sparse hair

Head And Neck Mouth:
small mouth

Skeletal Hands:
adducted thumbs
clenched fists

Head And Neck Face:
progeroid appearance

Skin Nails Hair Skin Histology:
reduced number of elastic fibers
thin or fragmented elastic fibers
degenerated elastic fibers

Clinical features from OMIM:

219150

UMLS symptoms related to Cutis Laxa, Autosomal Recessive, Type Iiia:


seizures, athetosis, grimacing

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

Drugs for Cutis Laxa, Autosomal Recessive, Type Iiia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 62)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Loteprednol Approved, Experimental Phase 4 129260-79-3, 82034-46-6 444025 9865442
2
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
3
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
4
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
5 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
6
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
7
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
8 Antiemetics Phase 4
9 Methylprednisolone Acetate Phase 4
10 Neuroprotective Agents Phase 4
11 Autonomic Agents Phase 4
12 Protective Agents Phase 4
13 Antineoplastic Agents, Hormonal Phase 4
14
Fluorometholone Approved, Investigational Phase 2, Phase 3 426-13-1 9878
15 Anti-Bacterial Agents Phase 2, Phase 3
16 Alkylating Agents Phase 2, Phase 3
17 Antibiotics, Antitubercular Phase 2, Phase 3
18 Mitomycins Phase 2, Phase 3
19 Anti-Inflammatory Agents Phase 2, Phase 3
20 Pharmaceutical Solutions Phase 2, Phase 3
21 Hormone Antagonists Phase 2, Phase 3
22 glucocorticoids Phase 2, Phase 3
23 Hormones Phase 2, Phase 3
24 Anti-Allergic Agents Phase 2, Phase 3
25
Povidone Approved Phase 2 9003-39-8
26
Iodine Approved, Investigational Phase 2 7553-56-2 807
27
Tetracaine Approved, Vet_approved Phase 2 94-24-6 5411
28
Povidone-iodine Approved Phase 2 25655-41-8
29
Dipivefrin Approved Phase 2 52365-63-6 3105
30
Ethanol Approved Phase 2 64-17-5 702
31 Plasma-lyte 148 Phase 1, Phase 2
32 Lubricant Eye Drops Phase 1, Phase 2
33 Ophthalmic Solutions Phase 1, Phase 2
34 Anti-Infective Agents Phase 1, Phase 2
35 Anesthetics, Local Phase 2
36 cadexomer iodine Phase 2
37
Flavin Mononucleotide Approved, Investigational 146-17-8 643976
38
Itraconazole Approved, Investigational 84625-61-6 55283
39
Chloramphenicol succinate Approved 3544-94-3
40
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
41
Chloramphenicol Approved, Vet_approved 56-75-7 298 5959
42
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
43
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved 83-88-5 493570
44 Anti-Inflammatory Agents, Non-Steroidal
45 Analgesics, Non-Narcotic
46 Pyranoprofen
47 Analgesics
48 Vitamins
49 Trace Elements
50 Micronutrients

Interventional clinical trials:

(show all 38)
# Name Status NCT ID Phase Drugs
1 Evaluation of the Prophylactic Use of Mitomycin C 0.02% to Inhibit Haze Formation After Photorefractive Keratectomy for High Myopia: 15 x 30 Seconds Completed NCT00564213 Phase 4 PRK and a single intraoperative topical application of mitomycin C 0.02% for 15 seconds
2 Efficacy and Safety of Loteprednol 0.5% Gel for Routine Prophylaxis After Photorefractive Keratectomy Compared to Prednisolone Acetate 1% Suspension and Fluorometholone 0.1% Suspension Completed NCT03123614 Phase 4 Loteprednol Etabonate 0.5% Oph Gel;Prednisolone Acetate 1% Oph Susp
3 A Randomised Controlled Trial of Non-absorbable (Silk) Sutures Verses Absorbable (Vicryl) Sutures During the Surgical Treatment of Trachomatous Trichiasis Completed NCT00522860 Phase 4
4 The Use of Intraoperative Mitomycin-C During Photorefractive Keratectomy and Its Effect on Postoperative Topical Steroid Requirements Recruiting NCT02030990 Phase 2, Phase 3 Mitomycin-C;Fluorometholone 1% topical ocular steroid
5 A Multicenter, Randomized, Open-label, Two-arms Phase I/II Clinical Trial to Asses Efficacy and Safety of Cord Blood Eye Drops in Neurotrophic Keratopathy Recruiting NCT03084861 Phase 1, Phase 2 Cord Blood Eye Drops;Conventional treatment
6 Role of Pupil Centroid Shift Compensation on Lower and Higher Order Aberrations During Photorefractive Keratectomy: An Eye-to-Eye Study Recruiting NCT03844178 Phase 2 installation of Tetracaine 1%
7 Safety and Feasibility of Cultivated Autologous Limbal Epithelial Cell Transplantation in the Treatment of Limbal Stem Cell Deficiency (LSCD) Recruiting NCT02592330 Phase 1, Phase 2
8 Infliximab Therapy to Improve Retention of the Boston Keratoprosthesis in Patients After Stevens Johnson Syndrome/ Toxic Epidermal Necrolysis Withdrawn NCT01256489 Phase 1, Phase 2 Infliximab
9 Phototherapeutic Keratectomy With Mitomycin C in Adenoviral Infiltrates Unknown status NCT00492245
10 Topical Anesthesia for Closed PKP vs Retrobulbar Anesthesia for Open-sky PKP Unknown status NCT02826174 Anti-Rejection Agents;Anti-Inflammatory Agents
11 Corneal Ulcer Prevention Through Health Education Unknown status NCT02284698
12 Observation on Effect of Anti--inflammatory and Inhibition of Recurrence on the Herpes Simplex Keratitis After Topical NSAIDs Administration Unknown status NCT03013959 Pranoprofen
13 The Effect of Platelet Lysate on Corneal Epithelial Wound healing---the Collection of Human Serum From Volunteers Unknown status NCT02720146
14 Using Impression Cytology to Observe the Cytological Changes of Ocular Surface Cells in Various Ocular Surface Disorders Unknown status NCT01387971
15 Neuartige Kontaktlose Biometrische Messungen Completed NCT00494390
16 Comparison of Ultrasonic Pachymetry With Orbscan in Corneal Haze Completed NCT00439114
17 Observational Study on Corneal Opacities in Children Completed NCT02117323
18 Femtosecond Laser-assisted Anterior Lamellar Keratoplasty Completed NCT02301598
19 Randomized Clinical Trial Comparing Transepithelial Corneal Cross-linking Using Iontophoresis and Standard Corneal Cross-linking for the Treatment of Keratoconus Completed NCT02117999
20 Laser Assisted Procedures in Penetrating Keratoplasty: Femtosecond Laser Anvil-shaped Cuts and Laser Welding of the Surgical Wounds Completed NCT02173847
21 Optical Coherence Tomography Guided Transepithelial Phototherapeutic Keratectomy Recruiting NCT01243931 OCT-guided laser phototherapeutic keratectomy
22 Observational Study of Corneal Opacities in Adults Recruiting NCT02109471
23 Optical Coherence Tomography-Aided Differential Diagnosis and Treatment of Irregular Corneas Recruiting NCT03504800
24 The Effects of Minor Salivary Gland Transplantation for Cicatrizing Conjunctivitis Recruiting NCT03839069
25 Village Integrated Eye Workers Trial Recruiting NCT01969786
26 Genetic Testing in Primary Congenital Glaucoma Patients Recruiting NCT01136460
27 Retinal Imaging Using NOTAL-OCT V3.0 Recruiting NCT04078672
28 Biomarker for Hurler Disease - An International, Multicenter, Epidemiological Protocol Recruiting NCT02298712
29 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
30 Timing of Glaucoma Drainage Device Implantation With Boston Keratoprosthesis Surgery Recruiting NCT02084745
31 SINGLE PATIENT EXPANDED ACCESS OF A PROSPECTIVE, MULTICENTER CLINICAL TRIAL DESIGNED TO EVALUATE THE SAFETY AND PROBABLE BENEFIT OF THE KERAKLEAR NON-PENETRATING KERATOPROSTHESIS IN SUBJECTS WITH CORNEAL OPACITY WITH POOR PROGNOSIS FOR CORNEAL TRANSPLANT Active, not recruiting NCT03812341
32 Auditing of Poor Visual Outcomes After Un-eventual Cataract Surgery: a Prospective Cohort Study Not yet recruiting NCT03593616
33 A Prospective, Multicenter Clinical Trial Designed to Evaluate the Safety and Probable Benefit of the KeraKlear Non-Penetrating Keratoprosthesis in Subjects With Corneal Opacity With Poor Prognosis for Corneal Transplant Terminated NCT03126903
34 Randomized Clinical Trial of OCT-guided Laser-assisted Lamellar Anterior Keratoplasty in Children Terminated NCT01579643
35 Robotic Microsurgery of the Ocular surfaceProspective Human Feasibility Study Terminated NCT02116062
36 RANDOMIZED CLINICAL TRIAL OF OCT-GUIDED LASER-ASSISTED LAMELLAR ANTERIOR KERATOPLASTY IN ADULTS FOR KERATOCONUS Terminated NCT01901614 Retrobulbar Block or General Anesthesia;Topical Anesthesia
37 Intraocular Pressure Monitoring With Implantable Intraocular Pressure Sensor for Improved Glaucoma Monitoring in Patients With Boston Keratoprosthesis Type 1 Withdrawn NCT03421548
38 Randomized Clinical Trial of OCT-Guided Laser-Assisted Lamellar Anterior Keratoplasty in Adults for Stromal Opacities Withdrawn NCT01901601 Retrobulbar Block or General Anesthesia;Topical Anesthesia

Search NIH Clinical Center for Cutis Laxa, Autosomal Recessive, Type Iiia

Cochrane evidence based reviews: corneal opacity

Genetic Tests for Cutis Laxa, Autosomal Recessive, Type Iiia

Anatomical Context for Cutis Laxa, Autosomal Recessive, Type Iiia

MalaCards organs/tissues related to Cutis Laxa, Autosomal Recessive, Type Iiia:

40
Skin, Eye, Bone, Heart, Testes, Kidney, Salivary Gland

Publications for Cutis Laxa, Autosomal Recessive, Type Iiia

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

(show all 15)
# Title Authors PMID Year
1
Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. 56 6
24913064 2014
2
Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature. 56 6
24767728 2014
3
Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS). 56 6
21739576 2011
4
A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. 56 6
18478038 2008
5
Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase. 56 6
11092761 2000
6
De Barsy syndrome and ATP6V0A2-CDG. 56
20010974 2010
7
De Barsy syndrome: a review of the phenotype. 56
18388779 2008
8
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. 56
18157129 2008
9
De Barsy syndrome: report of a case, literature review, and elastin gene expression studies of the skin. 56
1308362 1992
10
Biochemical, morphological and immunological findings in a patient with a cutis laxa-associated inborn disorder (De Barsy syndrome). 56
3491758 1986
11
De Barsy syndrome--an autosomal recessive, progeroid syndrome. 56
4076251 1985
12
[DeBarsy-Moens-Dierckx-syndrome (author's transl)]. 56
1256459 1976
13
Congenital athetosis, mental deficiency, dwarfism and laxity of skin and ligaments. 56
5123306 1971
14
Dwarfism, oligophrenia and degeneration of the elastic tissue in skin and cornea. A new syndrome? 56
4302249 1968
15
Δ1 -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder. 61
32017139 2020

Variations for Cutis Laxa, Autosomal Recessive, Type Iiia

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

6 (show all 50) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ALDH18A1 NM_002860.4(ALDH18A1):c.2131del (p.Leu711fs)deletion Pathogenic 156546 rs587777858 10:97370029-97370029 10:95610272-95610272
2 ALDH18A1 NM_002860.4(ALDH18A1):c.1802-2_1924-901deldeletion Pathogenic 156547 10:97372100-97373622 10:95612343-95613865
3 ALDH18A1 NM_002860.4(ALDH18A1):c.413G>T (p.Arg138Leu)SNV Pathogenic 217261 rs863225045 10:97397084-97397084 10:95637327-95637327
4 ALDH18A1 NM_002860.4(ALDH18A1):c.2345A>G (p.Tyr782Cys)SNV Pathogenic 217273 rs774047299 10:97366562-97366562 10:95606805-95606805
5 ALDH18A1 NM_002860.4(ALDH18A1):c.2350C>T (p.His784Tyr)SNV Pathogenic 16086 rs121434583 10:97366557-97366557 10:95606800-95606800
6 ALDH18A1 NM_002860.4(ALDH18A1):c.1923+1G>ASNV Pathogenic 29727 rs863223315 10:97373498-97373498 10:95613741-95613741
7 ALDH18A1 NM_002860.4(ALDH18A1):c.741del (p.Asp247fs)deletion Pathogenic 459841 rs1555262375 10:97392783-97392783 10:95633026-95633026
8 ALDH18A1 NM_002860.4(ALDH18A1):c.1499G>T (p.Gly500Val)SNV Pathogenic 638645 10:97376340-97376340 10:95616583-95616583
9 ALDH18A1 NM_002860.4(ALDH18A1):c.2246G>A (p.Arg749Gln)SNV Pathogenic 807367 10:97366661-97366661 10:95606904-95606904
10 ALDH18A1 NM_002860.4(ALDH18A1):c.1273C>T (p.Arg425Cys)SNV Likely pathogenic 633462 rs762742204 10:97380982-97380982 10:95621225-95621225
11 ALDH18A1 NM_002860.4(ALDH18A1):c.88+1G>ASNV Likely pathogenic 659530 10:97413046-97413046 10:95653289-95653289
12 ALDH18A1 NM_002860.4(ALDH18A1):c.177del (p.Lys59fs)deletion Likely pathogenic 559864 rs1555264243 10:97402875-97402875 10:95643118-95643118
13 ALDH18A1 NM_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln)SNV Likely pathogenic 216888 rs537043237 10:97366613-97366613 10:95606856-95606856
14 MCOLN1 NM_020533.3(MCOLN1):c.378C>G (p.Tyr126Ter)SNV Likely pathogenic 373936 rs1057518782 19:7591465-7591465 19:7526579-7526579
15 MCOLN1 NM_020533.3(MCOLN1):c.777+1G>CSNV Likely pathogenic 373935 rs1057518781 19:7592847-7592847 19:7527961-7527961
16 ALDH18A1 NM_002860.4(ALDH18A1):c.2345A>C (p.Tyr782Ser)SNV Conflicting interpretations of pathogenicity 382498 rs774047299 10:97366562-97366562 10:95606805-95606805
17 ALDH18A1 NM_002860.4(ALDH18A1):c.2207-3C>TSNV Conflicting interpretations of pathogenicity 301756 rs149309642 10:97366703-97366703 10:95606946-95606946
18 ALDH18A1 NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln)SNV Conflicting interpretations of pathogenicity 217117 rs864321670 10:97392769-97392769 10:95633012-95633012
19 ALDH18A1 NM_002860.4(ALDH18A1):c.251G>A (p.Arg84Gln)SNV Uncertain significance 16085 rs121434582 10:97402801-97402801 10:95643044-95643044
20 46;XY;t(18;20)(q21.1;p11.23)dnTranslocation Uncertain significance 268042
21 ALDH18A1 NM_002860.4(ALDH18A1):c.1867G>A (p.Asp623Asn)SNV Uncertain significance 424961 rs770815414 10:97373555-97373555 10:95613798-95613798
22 ALDH18A1 NM_002860.4(ALDH18A1):c.428C>T (p.Ser143Leu)SNV Uncertain significance 581031 rs1302919102 10:97397069-97397069 10:95637312-95637312
23 ALDH18A1 NM_002860.4(ALDH18A1):c.1393G>C (p.Glu465Gln)SNV Uncertain significance 579657 rs757876226 10:97380862-97380862 10:95621105-95621105
24 ALDH18A1 NM_002860.4(ALDH18A1):c.2231C>T (p.Ser744Leu)SNV Uncertain significance 581547 rs762271422 10:97366676-97366676 10:95606919-95606919
25 ALDH18A1 NM_002860.4(ALDH18A1):c.1233G>T (p.Leu411Phe)SNV Uncertain significance 578899 rs758828421 10:97385132-97385132 10:95625375-95625375
26 ALDH18A1 NM_002860.4(ALDH18A1):c.1078+4A>GSNV Uncertain significance 578302 rs1566018543 10:97387195-97387195 10:95627438-95627438
27 ALDH18A1 NM_002860.4(ALDH18A1):c.709G>C (p.Gly237Arg)SNV Uncertain significance 573157 rs201841420 10:97393256-97393256 10:95633499-95633499
28 ALDH18A1 NM_002860.4(ALDH18A1):c.598C>T (p.Arg200Cys)SNV Uncertain significance 570966 rs201801058 10:97393367-97393367 10:95633610-95633610
29 ALDH18A1 NM_002860.4(ALDH18A1):c.1370G>A (p.Arg457His)SNV Uncertain significance 575749 rs570730665 10:97380885-97380885 10:95621128-95621128
30 ALDH18A1 NM_002860.4(ALDH18A1):c.847C>T (p.Leu283Phe)SNV Uncertain significance 566189 rs747291828 10:97388211-97388211 10:95628454-95628454
31 ALDH18A1 NM_002860.4(ALDH18A1):c.1264C>G (p.Leu422Val)SNV Uncertain significance 464038 rs142712849 10:97380991-97380991 10:95621234-95621234
32 ALDH18A1 NM_002860.4(ALDH18A1):c.1015G>A (p.Val339Ile)SNV Uncertain significance 464037 rs1346763871 10:97387262-97387262 10:95627505-95627505
33 ALDH18A1 NM_002860.4(ALDH18A1):c.551C>T (p.Ala184Val)SNV Uncertain significance 464042 rs201428777 10:97396857-97396857 10:95637100-95637100
34 ALDH18A1 NM_002860.4(ALDH18A1):c.1777A>G (p.Ser593Gly)SNV Uncertain significance 464040 rs1231068982 10:97373747-97373747 10:95613990-95613990
35 ALDH18A1 NM_002860.4(ALDH18A1):c.868G>A (p.Gly290Arg)SNV Uncertain significance 464043 rs368147360 10:97388190-97388190 10:95628433-95628433
36 ALDH18A1 NM_002860.4(ALDH18A1):c.1604T>A (p.Leu535Gln)SNV Uncertain significance 532701 rs200452017 10:97376235-97376235 10:95616478-95616478
37 ALDH18A1 NM_002860.4(ALDH18A1):c.2383A>G (p.Asn795Asp)SNV Uncertain significance 665168 10:97366524-97366524 10:95606767-95606767
38 ALDH18A1 NM_002860.4(ALDH18A1):c.2276C>T (p.Thr759Ile)SNV Uncertain significance 664573 10:97366631-97366631 10:95606874-95606874
39 ALDH18A1 NM_002860.4(ALDH18A1):c.2077A>G (p.Ser693Gly)SNV Uncertain significance 658085 10:97371046-97371046 10:95611289-95611289
40 ALDH18A1 NM_002860.4(ALDH18A1):c.1865G>A (p.Arg622Gln)SNV Uncertain significance 658959 10:97373557-97373557 10:95613800-95613800
41 ALDH18A1 NM_002860.4(ALDH18A1):c.1237G>A (p.Glu413Lys)SNV Uncertain significance 647291 10:97385128-97385128 10:95625371-95625371
42 ALDH18A1 NM_002860.4(ALDH18A1):c.709G>T (p.Gly237Trp)SNV Uncertain significance 638826 10:97393256-97393256 10:95633499-95633499
43 ALDH18A1 NM_002860.4(ALDH18A1):c.169C>A (p.His57Asn)SNV Uncertain significance 660899 10:97402883-97402883 10:95643126-95643126
44 ALDH18A1 NM_002860.4(ALDH18A1):c.678C>T (p.Val226=)SNV Likely benign 464041 rs772829720 10:97393287-97393287 10:95633530-95633530
45 ALDH18A1 NM_002860.4(ALDH18A1):c.1029T>C (p.Ile343=)SNV Benign/Likely benign 258823 rs41291566 10:97387248-97387248 10:95627491-95627491
46 ALDH18A1 NM_002860.4(ALDH18A1):c.1770C>T (p.Ser590=)SNV Benign/Likely benign 301762 rs11541780 10:97373754-97373754 10:95613997-95613997
47 ALDH18A1 NM_002860.4(ALDH18A1):c.1115C>A (p.Ser372Tyr)SNV Benign/Likely benign 301770 rs3765571 10:97386497-97386497 10:95626740-95626740
48 ALDH18A1 NM_002860.4(ALDH18A1):c.1977C>T (p.Ser659=)SNV Benign/Likely benign 301761 rs1804934 10:97371146-97371146 10:95611389-95611389
49 ALDH18A1 NM_002860.4(ALDH18A1):c.2206+15G>ASNV Benign 258825 rs10882640 10:97369939-97369939 10:95610182-95610182
50 ALDH18A1 NM_002860.4(ALDH18A1):c.1942C>T (p.Pro648Ser)SNV not provided 441102 rs768964431 10:97371181-97371181 10:95611424-95611424

UniProtKB/Swiss-Prot genetic disease variations for Cutis Laxa, Autosomal Recessive, Type Iiia:

73
# Symbol AA change Variation ID SNP ID
1 ALDH18A1 p.Arg84Gln VAR_038482 rs121434582
2 ALDH18A1 p.Thr299Ile VAR_051792 rs2275272
3 ALDH18A1 p.His784Tyr VAR_058006 rs121434583
4 ALDH18A1 p.Gly93Arg VAR_075884
5 ALDH18A1 p.Tyr782Cys VAR_075896 rs774047299

Expression for Cutis Laxa, Autosomal Recessive, Type Iiia

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

Pathways for Cutis Laxa, Autosomal Recessive, Type Iiia

GO Terms for Cutis Laxa, Autosomal Recessive, Type Iiia

Biological processes related to Cutis Laxa, Autosomal Recessive, Type Iiia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.56 PYCR3 PYCR2 PYCR1 ALDH18A1
2 cellular amino acid biosynthetic process GO:0008652 9.46 PYCR3 PYCR2 PYCR1 ALDH18A1
3 cellular response to oxidative stress GO:0034599 9.32 PYCR2 PYCR1
4 L-proline biosynthetic process GO:0055129 9.26 PYCR3 PYCR2 PYCR1 ALDH18A1
5 proline biosynthetic process GO:0006561 8.92 PYCR3 PYCR2 PYCR1 ALDH18A1

Molecular functions related to Cutis Laxa, Autosomal Recessive, Type Iiia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.26 PYCR3 PYCR2 PYCR1 ALDH18A1
2 pyrroline-5-carboxylate reductase activity GO:0004735 8.8 PYCR3 PYCR2 PYCR1

Sources for Cutis Laxa, Autosomal Recessive, Type Iiia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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68 SNOMED-CT via HPO
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