ARCL3A
MCID: CTS029
MIFTS: 46

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, 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 57 13 40
De Barsy Syndrome a 57 12 74
De Barsy Syndrome 74 40 72
Arcl3a 57 12 74
Progeroid Syndrome of De Barsy 57 74
Mental Retardation Joint Hypermobility and Skin Laxity with or Without Metabolic Abnormalities 74
Developmental Delay-Choreoathetosis-Joint Dislocation-Lax Skin 74
Delta-1-Pyrroline 5-Carboxylate Synthetase Deficiency 59
Cutis Laxa, Corneal Clouding, and Mental Retardation 57
Cutis Laxa Corneal Clouding and Mental Retardation 74
Cutis Laxa Corneal Clouding Mental Retardation 75
Autosomal Recessive Cutis Laxa Type Iiia 12
Cutis Laxa Autosomal Recessive Type Iiia 74
Neurocutaneous Syndrome, Bicknell Type 59
Neurocutaneous Syndrome Bicknell Type 74
Cutis Laxa, Autosomal Recessive, 3a 74
Aldh18a1-Related De Barsy Syndrome 59
Progeroid Syndrome De Barsy Type 75
P5cs Deficiency 59
Corneal Opacity 44

Characteristics:

Orphanet epidemiological data:

59
aldh18a1-related de barsy syndrome
Inheritance: Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
cutis laxa, autosomal recessive, type iiia:
Inheritance autosomal recessive inheritance sporadic


Classifications:



External Ids:

Disease Ontology 12 DOID:0070132
ICD10 33 Q82.8
ICD10 via Orphanet 34 Q87.8
Orphanet 59 ORPHA35664
MedGen 42 C0268354
UMLS 72 C0268354

Summaries for Cutis Laxa, Autosomal Recessive, Type Iiia

UniProtKB/Swiss-Prot : 74 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 congenital corneal opacities, cornea guttata, and corectopia and cutis laxa, autosomal recessive, type iiib, 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). The drugs Prednisolone phosphate and Methylprednisolone hemisuccinate have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and testes, 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 : 57 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 : 75 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
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 278)
# Related Disease Score Top Affiliating Genes
1 congenital corneal opacities, cornea guttata, and corectopia 12.6
2 cutis laxa, autosomal recessive, type iiib 12.4
3 obsolete: hemihypertrophy-intestinal web-corneal opacity syndrome 12.4
4 obsolete: metabolic disease with corneal opacity 12.4
5 peters-plus syndrome 11.8
6 fabry disease 11.8
7 anterior segment dysgenesis 7 11.7
8 mental retardation syndrome, mietens-weber type 11.7
9 cutis laxa, autosomal dominant 1 11.7
10 cutis laxa, autosomal recessive, type iia 11.7
11 macular dystrophy, corneal 11.7
12 lecithin:cholesterol acyltransferase deficiency 11.7
13 hypoalphalipoproteinemia, primary, 2 11.7
14 fish-eye disease 11.6
15 branchiootic syndrome 1 11.5
16 granular corneal dystrophy 11.5
17 arcus corneae 11.5
18 familial lcat deficiency 11.5
19 anterior segment dysgenesis 1 11.4
20 multicentric osteolysis, nodulosis, and arthropathy 11.4
21 winchester syndrome 11.4
22 brachymesomelia-renal syndrome 11.4
23 cutis laxa, autosomal recessive, type ia 11.4
24 autosomal recessive cutis laxa type i 11.4
25 corneal dystrophy, thiel-behnke type 11.4
26 corneal hypesthesia, familial 11.2
27 gillespie syndrome 11.2
28 morquio syndrome c 11.2
29 mucolipidosis iv 11.2
30 roberts syndrome 11.2
31 spinocerebellar degeneration and corneal dystrophy 11.2
32 brachyolmia type 1, hobaek type 11.2
33 otopalatodigital syndrome, type ii 11.2
34 linear skin defects with multiple congenital anomalies 1 11.2
35 gomez-lopez-hernandez syndrome 11.2
36 ichthyosis, congenital, autosomal recessive 11 11.2
37 hurler syndrome 11.2
38 hurler-scheie syndrome 11.2
39 corneal dystrophy, reis-bucklers type 11.2
40 kanzaki disease 11.2
41 edict syndrome 11.2
42 anterior segment dysgenesis 6 11.2
43 brachyolmia 11.2
44 pillay syndrome 11.2
45 keratitis, hereditary 10.6
46 sclerocornea, autosomal dominant 10.5
47 keratopathy 10.4
48 yemenite deaf-blind hypopigmentation syndrome 10.4
49 intraocular pressure quantitative trait locus 10.4
50 sclerocornea 10.4

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:

59 32 (show top 50) (show all 84)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 cataract 59 32 frequent (33%) Very frequent (99-80%) HP:0000518
3 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
4 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005692
5 hyperextensible skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000974
6 hypertelorism 32 hallmark (90%) HP:0000316
7 low-set ears 32 hallmark (90%) HP:0000369
8 pectus excavatum 32 hallmark (90%) HP:0000767
9 high palate 32 hallmark (90%) HP:0000218
10 osteopenia 32 hallmark (90%) HP:0000938
11 hyperreflexia 32 hallmark (90%) HP:0001347
12 failure to thrive 32 hallmark (90%) HP:0001508
13 inguinal hernia 32 hallmark (90%) HP:0000023
14 delayed skeletal maturation 32 hallmark (90%) HP:0002750
15 corneal opacity 32 hallmark (90%) HP:0007957
16 delayed speech and language development 32 hallmark (90%) HP:0000750
17 umbilical hernia 32 hallmark (90%) HP:0001537
18 short stature 32 hallmark (90%) HP:0004322
19 decreased muscle mass 32 hallmark (90%) HP:0003199
20 brachycephaly 32 hallmark (90%) HP:0000248
21 prominent forehead 32 hallmark (90%) HP:0011220
22 delayed eruption of teeth 32 hallmark (90%) HP:0000684
23 epicanthus 32 hallmark (90%) HP:0000286
24 thin skin 32 hallmark (90%) HP:0000963
25 wormian bones 32 hallmark (90%) HP:0002645
26 narrow mouth 32 hallmark (90%) HP:0000160
27 intrauterine growth retardation 32 hallmark (90%) HP:0001511
28 postnatal growth retardation 32 hallmark (90%) HP:0008897
29 lipodystrophy 32 hallmark (90%) HP:0009125
30 congenital hip dislocation 32 hallmark (90%) HP:0001374
31 talipes equinovarus 32 hallmark (90%) HP:0001762
32 kyphoscoliosis 32 hallmark (90%) HP:0002751
33 deeply set eye 32 hallmark (90%) HP:0000490
34 downslanted palpebral fissures 32 hallmark (90%) HP:0000494
35 nasal speech 32 hallmark (90%) HP:0001611
36 adducted thumb 32 hallmark (90%) HP:0001181
37 decreased fetal movement 32 hallmark (90%) HP:0001558
38 coxa vara 32 hallmark (90%) HP:0002812
39 large earlobe 32 hallmark (90%) HP:0009748
40 sparse hair 32 hallmark (90%) HP:0008070
41 athetosis 32 hallmark (90%) HP:0002305
42 recurrent sinopulmonary infections 32 hallmark (90%) HP:0005425
43 infantile muscular hypotonia 32 hallmark (90%) HP:0008947
44 high myopia 32 hallmark (90%) HP:0011003
45 progeroid facial appearance 32 hallmark (90%) HP:0005328
46 generalized joint laxity 32 hallmark (90%) HP:0002761
47 dermal translucency 32 hallmark (90%) HP:0010648
48 cutis laxa 32 hallmark (90%) HP:0000973
49 delayed closure of the anterior fontanelle 32 hallmark (90%) HP:0001476
50 progressive microcephaly 32 hallmark (90%) HP:0000253

Symptoms via clinical synopsis from OMIM:

57
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 70)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
2
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
3
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
4
Loteprednol Approved, Experimental Phase 4 129260-79-3, 82034-46-6 444025 9865442
5
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
6
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
7 Antiemetics Phase 4
8 Neuroprotective Agents Phase 4
9 Methylprednisolone Acetate Phase 4
10 Protective Agents Phase 4
11 Antineoplastic Agents, Hormonal Phase 4
12 Autonomic Agents Phase 4
13 Prednisolone acetate Phase 4
14
Fluorometholone Approved, Investigational Phase 2, Phase 3 426-13-1 9878
15 Alkylating Agents Phase 2, Phase 3
16 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3
17 Mitomycins Phase 2, Phase 3
18 Antibiotics, Antitubercular Phase 2, Phase 3
19 Anti-Bacterial Agents Phase 2, Phase 3
20 Anti-Inflammatory Agents Phase 2, Phase 3
21 Pharmaceutical Solutions Phase 2, Phase 3
22 Anti-Allergic Agents Phase 2, Phase 3
23 glucocorticoids Phase 2, Phase 3
24 Hormones Phase 2, Phase 3
25 Hormone Antagonists Phase 2, Phase 3
26 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
27
Dipivefrin Approved Phase 2 52365-63-6 3105
28
Tetracaine Approved, Vet_approved Phase 2 94-24-6 5411
29
Povidone Approved Phase 2 9003-39-8
30
Ethanol Approved Phase 2 64-17-5 702
31
Iodine Approved, Investigational Phase 2 7553-56-2 807
32
Povidone-iodine Approved Phase 2 25655-41-8
33 Ophthalmic Solutions Phase 1, Phase 2
34 Anti-Infective Agents Phase 1, Phase 2
35 Lubricant Eye Drops Phase 1, Phase 2
36 Plasma-lyte 148 Phase 1, Phase 2
37 Peripheral Nervous System Agents Phase 2
38 Anesthetics, Local Phase 2
39 cadexomer iodine Phase 2
40
Thrombin Approved, Investigational Phase 1
41 Fibrin Tissue Adhesive Phase 1
42 Hemostatics Phase 1
43 Coagulants Phase 1
44
Flavin Mononucleotide Approved, Investigational 146-17-8 643976
45
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
46
Chloramphenicol succinate Approved 3544-94-3
47
Chloramphenicol Approved, Vet_approved 56-75-7 298 5959
48
Itraconazole Approved, Investigational 84625-61-6 55283
49
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
50
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved 83-88-5 493570

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 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
8 Ex-vivo Cultivated Limbal Stem Cell Transplantation for Treatment of Superficial Corneal Pathologies Recruiting NCT02948023 Phase 1
9 Pilot Clinical Trial to Assess the Safety of Limbus-derived Corneal Stem Cells in Prevention of Corneal Haze After Photo Therapeutic/Refractive Keratectomy (PTK/ PRK) and Collagen Cross Linking (CXL) Recruiting NCT03295292 Phase 1
10 Phototherapeutic Keratectomy With Mitomycin C in Adenoviral Infiltrates Unknown status NCT00492245
11 Topical Anesthesia for Closed PKP vs Retrobulbar Anesthesia for Open-sky PKP Unknown status NCT02826174 Anti-Rejection Agents;Anti-Inflammatory Agents
12 Corneal Ulcer Prevention Through Health Education Unknown status NCT02284698
13 Observation on Effect of Anti--inflammatory and Inhibition of Recurrence on the Herpes Simplex Keratitis After Topical NSAIDs Administration Unknown status NCT03013959 Pranoprofen
14 The Effect of Platelet Lysate on Corneal Epithelial Wound healing---the Collection of Human Serum From Volunteers Unknown status NCT02720146
15 Using Impression Cytology to Observe the Cytological Changes of Ocular Surface Cells in Various Ocular Surface Disorders Unknown status NCT01387971
16 Neuartige Kontaktlose Biometrische Messungen Completed NCT00494390
17 Comparison of Ultrasonic Pachymetry With Orbscan in Corneal Haze Completed NCT00439114
18 Observational Study on Corneal Opacities in Children Completed NCT02117323
19 Femtosecond Laser-assisted Anterior Lamellar Keratoplasty Completed NCT02301598
20 Randomized Clinical Trial Comparing Transepithelial Corneal Cross-linking Using Iontophoresis and Standard Corneal Cross-linking for the Treatment of Keratoconus Completed NCT02117999
21 Laser Assisted Procedures in Penetrating Keratoplasty: Femtosecond Laser Anvil-shaped Cuts and Laser Welding of the Surgical Wounds Completed NCT02173847
22 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 Recruiting NCT03126903
23 Optical Coherence Tomography Guided Transepithelial Phototherapeutic Keratectomy Recruiting NCT01243931 OCT-guided laser phototherapeutic keratectomy
24 Observational Study of Corneal Opacities in Adults Recruiting NCT02109471
25 Optical Coherence Tomography-Aided Differential Diagnosis and Treatment of Irregular Corneas Recruiting NCT03504800
26 The Effects of Minor Salivary Gland Transplantation for Cicatrizing Conjunctivitis Recruiting NCT03839069
27 Village Integrated Eye Workers Trial Recruiting NCT01969786
28 Genetic Testing in Primary Congenital Glaucoma Patients Recruiting NCT01136460
29 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
30 Biomarker for Hurler Disease - An International, Multicenter, Epidemiological Protocol Recruiting NCT02298712
31 Timing of Glaucoma Drainage Device Implantation With Boston Keratoprosthesis Surgery Recruiting NCT02084745
32 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
33 Auditing of Poor Visual Outcomes After Un-eventual Cataract Surgery: a Prospective Cohort Study Not yet recruiting NCT03593616
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 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
38 Intraocular Pressure Monitoring With Implantable Intraocular Pressure Sensor for Improved Glaucoma Monitoring in Patients With Boston Keratoprosthesis Type 1 Withdrawn NCT03421548

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:

41
Skin, Eye, Testes, Bone, Salivary Gland

Publications for Cutis Laxa, Autosomal Recessive, Type Iiia

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

(show all 18)
# Title Authors PMID Year
1
Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. 8 71
24913064 2014
2
Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature. 8 71
24767728 2014
3
Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS). 8 71
21739576 2011
4
A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. 8 71
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. 8 71
11092761 2000
6
De Barsy syndrome: a review of the phenotype. 38 8
18388779 2008
7
Biochemical, morphological and immunological findings in a patient with a cutis laxa-associated inborn disorder (De Barsy syndrome). 38 8
3491758 1986
8
De Barsy syndrome and ATP6V0A2-CDG. 8
20010974 2010
9
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. 8
18157129 2008
10
De Barsy syndrome: report of a case, literature review, and elastin gene expression studies of the skin. 8
1308362 1992
11
De Barsy syndrome--an autosomal recessive, progeroid syndrome. 8
4076251 1985
12
[DeBarsy-Moens-Dierckx-syndrome (author's transl)]. 8
1256459 1976
13
Congenital athetosis, mental deficiency, dwarfism and laxity of skin and ligaments. 8
5123306 1971
14
Dwarfism, oligophrenia and degeneration of the elastic tissue in skin and cornea. A new syndrome? 8
4302249 1968
15
Clinical implications of de Barsy syndrome. 38
29148179 2018
16
De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. 38
22411858 2012
17
Anesthesia considerations for patients with de Barsy syndrome. 38
21056805 2010
18
[De Barsy syndrome, a further case (author's transl)]. 38
4475320 1974

Variations for Cutis Laxa, Autosomal Recessive, Type Iiia

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

6 (show top 50) (show all 53)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ALDH18A1 NM_002860.4(ALDH18A1): c.741del (p.Asp247fs) deletion Pathogenic rs1555262375 10:97392783-97392783 10:95633026-95633026
2 ALDH18A1 NM_002860.4(ALDH18A1): c.2350C> T (p.His784Tyr) single nucleotide variant Pathogenic rs121434583 10:97366557-97366557 10:95606800-95606800
3 ALDH18A1 NM_002860.4(ALDH18A1): c.1923+1G> A single nucleotide variant Pathogenic rs863223315 10:97373498-97373498 10:95613741-95613741
4 ALDH18A1 NM_002860.4(ALDH18A1): c.2131del (p.Leu711fs) deletion Pathogenic rs587777858 10:97370029-97370029 10:95610272-95610272
5 ALDH18A1 NM_002860.4(ALDH18A1): c.1802-2_1924-901del deletion Pathogenic 10:97372101-97373623 10:95612344-95613866
6 ALDH18A1 NM_002860.4(ALDH18A1): c.1499G> T (p.Gly500Val) single nucleotide variant Pathogenic 10:97376340-97376340 10:95616583-95616583
7 ALDH18A1 NM_002860.4(ALDH18A1): c.2345A> G (p.Tyr782Cys) single nucleotide variant Pathogenic rs774047299 10:97366562-97366562 10:95606805-95606805
8 ALDH18A1 NM_002860.4(ALDH18A1): c.2294G> A (p.Arg765Gln) single nucleotide variant Likely pathogenic rs537043237 10:97366613-97366613 10:95606856-95606856
9 ALDH18A1 NM_002860.4(ALDH18A1): c.1273C> T (p.Arg425Cys) single nucleotide variant Likely pathogenic 10:97380982-97380982 10:95621225-95621225
10 MCOLN1 NM_020533.3(MCOLN1): c.378C> G (p.Tyr126Ter) single nucleotide variant Likely pathogenic rs1057518782 19:7591465-7591465 19:7526579-7526579
11 ALDH18A1 NM_002860.4(ALDH18A1): c.88+1G> A single nucleotide variant Likely pathogenic 10:97413046-97413046 10:95653289-95653289
12 ALDH18A1 NM_002860.4(ALDH18A1): c.177del (p.Lys59fs) deletion Likely pathogenic rs1555264243 10:97402875-97402875 10:95643118-95643118
13 MCOLN1 NM_020533.3(MCOLN1): c.777+1G> C single nucleotide variant Likely pathogenic rs1057518781 19:7592847-7592847 19:7527961-7527961
14 ALDH18A1 NM_002860.4(ALDH18A1): c.2160C> T (p.Phe720=) single nucleotide variant Conflicting interpretations of pathogenicity rs374052426 10:97370000-97370000 10:95610243-95610243
15 ALDH18A1 NM_002860.4(ALDH18A1): c.1308G> A (p.Leu436=) single nucleotide variant Conflicting interpretations of pathogenicity rs144816455 10:97380947-97380947 10:95621190-95621190
16 ALDH18A1 NM_002860.4(ALDH18A1): c.492C> T (p.Ala164=) single nucleotide variant Conflicting interpretations of pathogenicity rs150472102 10:97396916-97396916 10:95637159-95637159
17 ALDH18A1 NM_002860.4(ALDH18A1): c.2207-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs149309642 10:97366703-97366703 10:95606946-95606946
18 ALDH18A1 NM_002860.4(ALDH18A1): c.755G> A (p.Arg252Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs864321670 10:97392769-97392769 10:95633012-95633012
19 ALDH18A1 NM_002860.4(ALDH18A1): c.1568C> T (p.Ala523Val) single nucleotide variant Uncertain significance rs529294368 10:97376271-97376271 10:95616514-95616514
20 ALDH18A1 NM_002860.4(ALDH18A1): c.598C> T (p.Arg200Cys) single nucleotide variant Uncertain significance 10:97393367-97393367 10:95633610-95633610
21 ALDH18A1 NM_002860.4(ALDH18A1): c.709G> C (p.Gly237Arg) single nucleotide variant Uncertain significance 10:97393256-97393256 10:95633499-95633499
22 ALDH18A1 NM_002860.4(ALDH18A1): c.1078+4A> G single nucleotide variant Uncertain significance 10:97387195-97387195 10:95627438-95627438
23 ALDH18A1 NM_002860.4(ALDH18A1): c.1233G> T (p.Leu411Phe) single nucleotide variant Uncertain significance 10:97385132-97385132 10:95625375-95625375
24 ALDH18A1 NM_002860.4(ALDH18A1): c.2231C> T (p.Ser744Leu) single nucleotide variant Uncertain significance 10:97366676-97366676 10:95606919-95606919
25 46;XY;t(18;20)(q21.1;p11.23)dn Translocation Uncertain significance
26 ALDH18A1 NM_002860.4(ALDH18A1): c.428C> T (p.Ser143Leu) single nucleotide variant Uncertain significance 10:97397069-97397069 10:95637312-95637312
27 ALDH18A1 NM_002860.4(ALDH18A1): c.1393G> C (p.Glu465Gln) single nucleotide variant Uncertain significance 10:97380862-97380862 10:95621105-95621105
28 ALDH18A1 NM_002860.4(ALDH18A1): c.1370G> A (p.Arg457His) single nucleotide variant Uncertain significance 10:97380885-97380885 10:95621128-95621128
29 ALDH18A1 NM_002860.4(ALDH18A1): c.847C> T (p.Leu283Phe) single nucleotide variant Uncertain significance 10:97388211-97388211 10:95628454-95628454
30 ALDH18A1 NM_002860.4(ALDH18A1): c.1604T> A (p.Leu535Gln) single nucleotide variant Uncertain significance rs200452017 10:97376235-97376235 10:95616478-95616478
31 ALDH18A1 NM_002860.4(ALDH18A1): c.2383A> G (p.Asn795Asp) single nucleotide variant Uncertain significance 10:97366524-97366524 10:95606767-95606767
32 ALDH18A1 NM_002860.4(ALDH18A1): c.2276C> T (p.Thr759Ile) single nucleotide variant Uncertain significance 10:97366631-97366631 10:95606874-95606874
33 ALDH18A1 NM_002860.4(ALDH18A1): c.2077A> G (p.Ser693Gly) single nucleotide variant Uncertain significance 10:97371046-97371046 10:95611289-95611289
34 ALDH18A1 NM_002860.4(ALDH18A1): c.1865G> A (p.Arg622Gln) single nucleotide variant Uncertain significance 10:97373557-97373557 10:95613800-95613800
35 ALDH18A1 NM_002860.4(ALDH18A1): c.1237G> A (p.Glu413Lys) single nucleotide variant Uncertain significance 10:97385128-97385128 10:95625371-95625371
36 ALDH18A1 NM_002860.4(ALDH18A1): c.709G> T (p.Gly237Trp) single nucleotide variant Uncertain significance 10:97393256-97393256 10:95633499-95633499
37 ALDH18A1 NM_002860.4(ALDH18A1): c.169C> A (p.His57Asn) single nucleotide variant Uncertain significance 10:97402883-97402883 10:95643126-95643126
38 ALDH18A1 NM_002860.4(ALDH18A1): c.1867G> A (p.Asp623Asn) single nucleotide variant Uncertain significance rs770815414 10:97373555-97373555 10:95613798-95613798
39 ALDH18A1 NM_002860.4(ALDH18A1): c.1264C> G (p.Leu422Val) single nucleotide variant Uncertain significance rs142712849 10:97380991-97380991 10:95621234-95621234
40 ALDH18A1 NM_002860.4(ALDH18A1): c.1015G> A (p.Val339Ile) single nucleotide variant Uncertain significance rs1346763871 10:97387262-97387262 10:95627505-95627505
41 ALDH18A1 NM_002860.4(ALDH18A1): c.251G> A (p.Arg84Gln) single nucleotide variant Uncertain significance rs121434582 10:97402801-97402801 10:95643044-95643044
42 ALDH18A1 NM_002860.4(ALDH18A1): c.551C> T (p.Ala184Val) single nucleotide variant Uncertain significance rs201428777 10:97396857-97396857 10:95637100-95637100
43 ALDH18A1 NM_002860.4(ALDH18A1): c.1777A> G (p.Ser593Gly) single nucleotide variant Uncertain significance rs1231068982 10:97373747-97373747 10:95613990-95613990
44 ALDH18A1 NM_002860.4(ALDH18A1): c.868G> A (p.Gly290Arg) single nucleotide variant Uncertain significance rs368147360 10:97388190-97388190 10:95628433-95628433
45 ALDH18A1 NM_002860.4(ALDH18A1): c.678C> T (p.Val226=) single nucleotide variant Likely benign rs772829720 10:97393287-97393287 10:95633530-95633530
46 ALDH18A1 NM_002860.4(ALDH18A1): c.2232G> A (p.Ser744=) single nucleotide variant Likely benign rs148601288 10:97366675-97366675 10:95606918-95606918
47 ALDH18A1 NM_002860.4(ALDH18A1): c.1029T> C (p.Ile343=) single nucleotide variant Benign/Likely benign rs41291566 10:97387248-97387248 10:95627491-95627491
48 ALDH18A1 NM_002860.4(ALDH18A1): c.1329C> T (p.Ile443=) single nucleotide variant Benign/Likely benign rs117709404 10:97380926-97380926 10:95621169-95621169
49 ALDH18A1 NM_002860.4(ALDH18A1): c.1977C> T (p.Ser659=) single nucleotide variant Benign/Likely benign rs1804934 10:97371146-97371146 10:95611389-95611389
50 ALDH18A1 NM_002860.4(ALDH18A1): c.1770C> T (p.Ser590=) single nucleotide variant Benign/Likely benign rs11541780 10:97373754-97373754 10:95613997-95613997

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

74
# 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

Sources for Cutis Laxa, Autosomal Recessive, Type Iiia

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