ARCL2B
MCID: CTS023
MIFTS: 45

Cutis Laxa, Autosomal Recessive, Type Iib (ARCL2B)

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 Iib

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

Name: Cutis Laxa, Autosomal Recessive, Type Iib 57 12 71
Arcl2b 57 11 58 73
Autosomal Recessive Cutis Laxa Type 2b 58 28 5
Cutis Laxa with Progeroid Features 57 19 73
Autosomal Recessive Cutis Laxa Type Iib 11 14
Arcl2, Progeroid Type 11 58
Autosomal Recessive Cutis Laxa Type 2, Progeroid Type 58
Cutis Laxa, Autosomal Recessive, Type 2b 38
Cutis Laxa, Autosomal Recessive Type 2b 19
Cutis Laxa Autosomal Recessive Type Iib 73
Cutis Laxa, Autosomal Recessive, 2b 73
Cl Type Iib 73

Characteristics:


Inheritance:

Cutis Laxa, Autosomal Recessive, Type Iib: Autosomal recessive 57
Autosomal Recessive Cutis Laxa Type 2b: Autosomal recessive 58

Classifications:

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


Summaries for Cutis Laxa, Autosomal Recessive, Type Iib

OMIM®: 57 The phenotype of autosomal recessive cutis laxa type II (ARCL2) includes cutis laxa of variable severity, abnormal growth, developmental delay, and associated skeletal abnormalities (summary by Morava et al., 2009). No specific clinical features distinguish ARCL2A (219200), which includes a glycosylation defect, and ARCL2B, in which abnormal glycosylation has not been reported (Morava et al., 2009; Guernsey et al., 2009). For a phenotypic description and discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100). (612940) (Updated 24-Oct-2022)

MalaCards based summary: Cutis Laxa, Autosomal Recessive, Type Iib, also known as arcl2b, is related to cutis laxa, autosomal recessive, type iia and wrinkly skin syndrome. An important gene associated with Cutis Laxa, Autosomal Recessive, Type Iib is PYCR1 (Pyrroline-5-Carboxylate Reductase 1), and among its related pathways/superpathways are Regulation of expression of SLITs and ROBOs and superpathway of L-citrulline metabolism. Affiliated tissues include skin, bone and eye, and related phenotypes are hypotelorism and agenesis of corpus callosum

GARD: 19 A rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.

Orphanet: 58 A rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.

UniProtKB/Swiss-Prot: 73 A disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Patients do not manifest metabolic abnormalities.

Disease Ontology: 11 A cutis laxa characterized by progeroid features that has material basis in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3.

Related Diseases for Cutis Laxa, Autosomal Recessive, Type Iib

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
Cutis Laxa, Autosomal Recessive, Type Iie Autosomal Recessive Cutis Laxa Type Iii
Autosomal Recessive Cutis Laxa Type I Atp6v0a2-Related Cutis Laxa
Efemp2-Related Cutis Laxa Eln-Related Cutis Laxa
Fbln5-Related Cutis Laxa Ltbp4-Related Cutis Laxa
Acquired Cutis Laxa

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

(show all 42)
# Related Disease Score Top Affiliating Genes
1 cutis laxa, autosomal recessive, type iia 29.7 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
2 wrinkly skin syndrome 29.6 PYCR1 GORAB FBLN5 EFEMP2 ATP6V0A2 ALDH18A1
3 cutis laxa, autosomal recessive, type iiib 29.3 RIN2 PYCR1 LTBP4 GORAB EFEMP2 ATP6V0A2
4 cutis laxa, autosomal dominant 1 29.1 SLC2A10 PYCR1 LTBP4 FBLN5 EFEMP2 ATP6V0A2
5 geroderma osteodysplasticum 28.6 RIN2 PYCR1 LTBP4 GORAB FBLN5 EFEMP2
6 cutis laxa 27.5 SLC2A10 RIN2 PYCR3 PYCR2 PYCR1 LTBP4
7 microcephaly 10.3
8 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.2
9 ureteric orifice cancer 10.1 FBLN5 EFEMP2
10 cutis laxa, autosomal dominant 2 10.1 FBLN5 EFEMP2
11 ehlers-danlos syndrome, vascular type 10.0 FBLN5 EFEMP2
12 borderline glaucoma 10.0 PYCR3 PYCR1
13 tricuspid valve prolapse 10.0 SLC2A10 EFEMP2
14 macs syndrome 10.0 RIN2 FBLN5
15 retinal drusen 10.0 FBLN5 EFEMP2
16 loeys-dietz syndrome 3 10.0 SLC2A10 EFEMP2
17 doyne honeycomb retinal dystrophy 9.9 FBLN5 EFEMP2
18 cutis laxa, autosomal dominant 3 9.9 PYCR1 ATP6V1E1 ALDH18A1
19 supravalvular aortic stenosis 9.9 LTBP4 FBLN5 EFEMP2
20 geleophysic dysplasia 9.9 LTBP4 EFEMP2
21 contractural arachnodactyly, congenital 9.9 SLC2A10 LTBP4
22 aortic dissection 9.8 SLC2A10 FBLN5 EFEMP2
23 diaphragmatic hernia, congenital 9.8 SLC2A10 LTBP4 EFEMP2
24 ehlers-danlos syndrome 9.8 SLC2A10 FBLN5 EFEMP2
25 immunodeficiency 47 9.8 PYCR1 ATP6V1E1 ATP6V0A2 ALDH18A1
26 bladder diverticulum 9.6 SLC2A10 LTBP4 FBLN5 EFEMP2
27 arterial tortuosity syndrome 9.6 SLC2A10 LTBP4 FBLN5 EFEMP2
28 loeys-dietz syndrome 9.6 SLC2A10 LTBP4 FBLN5 EFEMP2
29 aortic aneurysm 9.6 SLC2A10 LTBP4 FBLN5 EFEMP2
30 cutis laxa, autosomal recessive, type iid 9.6 RIN2 GORAB ATP6V1E1 ATP6V0A2 ALDH18A1
31 aortic aneurysm, familial thoracic 1 9.6 SLC2A10 LTBP4 FBLN5 EFEMP2
32 cutis laxa, autosomal recessive, type ia 9.6 LTBP4 FBLN5 EFEMP2 ATP6V0A2 ALDH18A1
33 cutis laxa, autosomal recessive, type iiia 9.5 RIN2 PYCR1 LTBP4 GORAB ATP6V0A2 ALDH18A1
34 williams-beuren syndrome 9.5 SLC2A10 FBLN5 EFEMP2
35 leukodystrophy, hypomyelinating, 10 9.5 PYCR3 PYCR2 PYCR1 ALDH18A1
36 inguinal hernia 9.3 SLC2A10 PYCR1 LTBP4 FBLN5 EFEMP2 ATP6V0A2
37 cutis laxa, autosomal recessive, type ic 9.3 RIN2 LTBP4 GORAB FBLN5 EFEMP2 ATP6V0A2
38 occipital horn syndrome 9.3 RIN2 LTBP4 GORAB FBLN5 EFEMP2 ATP6V0A2
39 autosomal recessive cutis laxa type i 8.9 SLC2A10 RIN2 PYCR1 LTBP4 GORAB FBLN5
40 cutis laxa, autosomal recessive, type ib 8.9 SLC2A10 RIN2 PYCR1 LTBP4 GORAB FBLN5
41 autosomal recessive cutis laxa type iii 8.7 RIN2 PYCR2 PYCR1 LTBP4 GORAB FBLN5
42 autosomal recessive cutis laxa type ii classic type 8.4 RIN2 PYCR2 PYCR1 LTBP4 GORAB FBLN5

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



Diseases related to Cutis Laxa, Autosomal Recessive, Type Iib

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

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

30 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypotelorism 30 Occasional (7.5%) HP:0000601
2 agenesis of corpus callosum 30 Very rare (1%) HP:0001274
3 failure to thrive 30 Very rare (1%) HP:0001508
4 scoliosis 30 Very rare (1%) HP:0002650
5 high palate 30 Very rare (1%) HP:0000218
6 hydrocephalus 30 Very rare (1%) HP:0000238
7 global developmental delay 30 Very rare (1%) HP:0001263
8 inguinal hernia 30 Very rare (1%) HP:0000023
9 hypertelorism 30 Very rare (1%) HP:0000316
10 microcephaly 30 Very rare (1%) HP:0000252
11 gastroesophageal reflux 30 Very rare (1%) HP:0002020
12 decreased muscle mass 30 Very rare (1%) HP:0003199
13 prominent forehead 30 Very rare (1%) HP:0011220
14 intrauterine growth retardation 30 Very rare (1%) HP:0001511
15 pectus excavatum 30 Very rare (1%) HP:0000767
16 congenital hip dislocation 30 Very rare (1%) HP:0001374
17 downslanted palpebral fissures 30 Very rare (1%) HP:0000494
18 long philtrum 30 Very rare (1%) HP:0000343
19 protruding ear 30 Very rare (1%) HP:0000411
20 deeply set eye 30 Very rare (1%) HP:0000490
21 bulbous nose 30 Very rare (1%) HP:0000414
22 broad forehead 30 Very rare (1%) HP:0000337
23 bruising susceptibility 30 Very rare (1%) HP:0000978
24 large fontanelles 30 Very rare (1%) HP:0000239
25 wormian bones 30 Very rare (1%) HP:0002645
26 blue sclerae 30 Very rare (1%) HP:0000592
27 midface retrusion 30 Very rare (1%) HP:0011800
28 triangular face 30 Very rare (1%) HP:0000325
29 lack of skin elasticity 30 Very rare (1%) HP:0100679
30 excessive wrinkled skin 30 Very rare (1%) HP:0007392
31 prominent superficial veins 30 Very rare (1%) HP:0001015
32 narrow nasal ridge 30 Very rare (1%) HP:0000418
33 premature sagging cheeks 30 Very rare (1%) HP:0034273
34 frontal bossing 30 HP:0002007
35 osteopenia 30 HP:0000938
36 bowing of the long bones 30 HP:0006487
37 joint hypermobility 30 HP:0001382
38 malar flattening 30 HP:0000272
39 redundant skin 30 HP:0001582

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Growth Other:
failure to thrive
intrauterine growth retardation
poor postnatal growth

Head And Neck Head:
microcephaly
large fontanel

Skeletal Pelvis:
congenital hip dislocation

Head And Neck Face:
triangular face
midface hypoplasia
broad, prominent forehead
sagging cheeks
aged appearance

Neurologic Central Nervous System:
developmental delay
agenesis of the corpus callosum (in 2 patients)
hydrocephalus (in 2 patients)

Skeletal Limbs:
bowing of long bones

Cardiovascular Vascular:
no vascular tortuosity

Skeletal Hands:
long digits (in 2 patients)
clasped thumb

Skeletal:
osteopenia
joint hyperextensibility

Abdomen Gastrointestinal:
gastroesophageal reflux

Head And Neck Eyes:
blue sclerae
downslanting palpebral fissures (in 2 patients)
hypotelorism (in 2 patients)
deep-set eyes (in 2 patients)

Skin Nails Hair Skin:
cutis laxa
prominent veins
loose redundant skin (especially of dorsum of hands and feet and anterior abdominal wall)
reduced skin elasticity
wrinkly skin

Head And Neck Ears:
prominent ears

Head And Neck Nose:
prominent bulbous nose

Skeletal Spine:
scoliosis (in 2 patients)

Laboratory Abnormalities:
no metabolic abnormalities

Clinical features from OMIM®:

612940 (Updated 24-Oct-2022)

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

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

Genetic Tests for Cutis Laxa, Autosomal Recessive, Type Iib

Genetic tests related to Cutis Laxa, Autosomal Recessive, Type Iib:

# Genetic test Affiliating Genes
1 Autosomal Recessive Cutis Laxa Type 2b 28 PYCR1

Anatomical Context for Cutis Laxa, Autosomal Recessive, Type Iib

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

MalaCards : Skin, Bone, Eye

Publications for Cutis Laxa, Autosomal Recessive, Type Iib

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

(show all 19)
# Title Authors PMID Year
1
Mutations in PYCR1 cause cutis laxa with progeroid features. 62 57 5
19648921 2009
2
Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman. 57 5
18348262 2008
3
Gerodermia osteodysplastica/wrinkly skin syndrome: report of three patients and brief review of the literature. 57 5
18304158 2008
4
Wrinkly skin syndrome. 57 5
16045708 2005
5
Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same? 57 5
11424136 2001
6
Autosomal recessive cutis laxa syndrome revisited. 57
19401719 2009
7
Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2. 57
19576563 2009
8
Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features. 62
35064218 2022
9
Pathological Fracture in Autosomal Recessive Cutis Laxa Type 2B. 62
31054122 2019
10
SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy. 62
31015584 2019
11
Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1. 62
28228640 2017
12
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica. 62
28294978 2017
13
Sublethal endoplasmic reticulum stress caused by the mutation of immunoglobulin heavy chain-binding protein induces the synthesis of a mitochondrial protein, pyrroline-5-carboxylate reductase 1. 62
27796797 2017
14
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. 62
26320891 2015
15
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. 62
24035636 2013
16
Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome. 62
22052856 2011
17
Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutations. 62
21834030 2011
18
A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family. 62
21567914 2011
19
The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2. 62
21204221 2011

Variations for Cutis Laxa, Autosomal Recessive, Type Iib

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

5 (show all 25)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PYCR1 NM_006907.4(PYCR1):c.616G>T (p.Gly206Trp) SNV Pathogenic
13191 rs121918375 GRCh37: 17:79892546-79892546
GRCh38: 17:81934670-81934670
2 PYCR1 NM_006907.4(PYCR1):c.618_633+7del DEL Pathogenic
13192 rs1598354372 GRCh37: 17:79892522-79892544
GRCh38: 17:81934646-81934668
3 PYCR1 NM_006907.4(PYCR1):c.11del (p.Gly4fs) DEL Pathogenic
13195 rs1598358449 GRCh37: 17:79894680-79894680
GRCh38: 17:81936804-81936804
4 PYCR1 NM_006907.4(PYCR1):c.355C>G (p.Arg119Gly) SNV Pathogenic
Pathogenic
13196 rs121918376 GRCh37: 17:79892987-79892987
GRCh38: 17:81935111-81935111
5 PYCR1 NM_006907.4(PYCR1):c.356G>A (p.Arg119His) SNV Pathogenic
13197 rs121918377 GRCh37: 17:79892986-79892986
GRCh38: 17:81935110-81935110
6 PYCR1 NM_006907.4(PYCR1):c.59dup (p.Ala21fs) DUP Pathogenic
488457 rs762218403 GRCh37: 17:79894631-79894632
GRCh38: 17:81936755-81936756
7 PYCR1 NM_006907.4(PYCR1):c.11G>T (p.Gly4Val) SNV Pathogenic
694681 rs1598358440 GRCh37: 17:79894680-79894680
GRCh38: 17:81936804-81936804
8 PYCR1 NM_006907.4(PYCR1):c.722C>T (p.Ala241Val) SNV Pathogenic
694719 rs770505872 GRCh37: 17:79892277-79892277
GRCh38: 17:81934401-81934401
9 PYCR1 NM_006907.4(PYCR1):c.67+2T>A SNV Pathogenic
996064 rs2041207320 GRCh37: 17:79894622-79894622
GRCh38: 17:81936746-81936746
10 PYCR1 NM_006907.4(PYCR1):c.728A>G (p.His243Arg) SNV Pathogenic
996065 rs2041098364 GRCh37: 17:79892271-79892271
GRCh38: 17:81934395-81934395
11 PYCR1 NM_006907.4(PYCR1):c.797G>A (p.Arg266Gln) SNV Pathogenic
13190 rs121918374 GRCh37: 17:79892202-79892202
GRCh38: 17:81934326-81934326
12 PYCR1 NM_006907.4(PYCR1):c.535G>A (p.Ala179Thr) SNV Pathogenic
449091 rs139751598 GRCh37: 17:79892807-79892807
GRCh38: 17:81934931-81934931
13 PYCR1 NM_006907.4(PYCR1):c.540+1G>A SNV Pathogenic
694712 rs752297179 GRCh37: 17:79892801-79892801
GRCh38: 17:81934925-81934925
14 PYCR1 NM_006907.4(PYCR1):c.797+2_797+5del DEL Pathogenic
13194 GRCh37: 17:79892197-79892200
GRCh38: 17:81934321-81934324
15 PYCR1 NM_006907.4(PYCR1):c.540+1G>T SNV Likely Pathogenic
1526132 GRCh37: 17:79892801-79892801
GRCh38: 17:81934925-81934925
16 PYCR1 NM_006907.4(PYCR1):c.556G>T (p.Asp186Tyr) SNV Likely Pathogenic
1526245 GRCh37: 17:79892606-79892606
GRCh38: 17:81934730-81934730
17 PYCR1 NM_006907.4(PYCR1):c.866A>G (p.Lys289Arg) SNV Likely Pathogenic
800973 rs34575645 GRCh37: 17:79891184-79891184
GRCh38: 17:81933308-81933308
18 PYCR1 NM_006907.4(PYCR1):c.557A>G (p.Asp186Gly) SNV Likely Pathogenic
827793 rs1180294322 GRCh37: 17:79892605-79892605
GRCh38: 17:81934729-81934729
19 PYCR1 NM_006907.4(PYCR1):c.219_220dup (p.Ile74fs) MICROSAT Likely Pathogenic
974888 rs2041157497 GRCh37: 17:79893310-79893311
GRCh38: 17:81935434-81935435
20 PYCR1 NM_006907.4(PYCR1):c.755C>T (p.Ser252Phe) SNV Likely Pathogenic
976724 rs767581950 GRCh37: 17:79892244-79892244
GRCh38: 17:81934368-81934368
21 PYCR1 NM_006907.4(PYCR1):c.559G>A (p.Ala187Thr) SNV Uncertain Significance
973232 rs763349891 GRCh37: 17:79892603-79892603
GRCh38: 17:81934727-81934727
22 PYCR1 NM_006907.4(PYCR1):c.334C>T (p.Arg112Trp) SNV Uncertain Significance
282265 rs147653673 GRCh37: 17:79893008-79893008
GRCh38: 17:81935132-81935132
23 PYCR1 NM_006907.4(PYCR1):c.346A>G (p.Arg116Gly) SNV Uncertain Significance
1031108 rs2041142934 GRCh37: 17:79892996-79892996
GRCh38: 17:81935120-81935120
24 PYCR1 NM_006907.4(PYCR1):c.138+37C>T SNV Benign
1258738 GRCh37: 17:79893962-79893962
GRCh38: 17:81936086-81936086
25 PYCR1 NM_006907.4(PYCR1):c.903A>G (p.Ser301=) SNV Benign
497969 rs61747618 GRCh37: 17:79891147-79891147
GRCh38: 17:81933271-81933271

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

73
# Symbol AA change Variation ID SNP ID
1 PYCR1 p.Arg119Gly VAR_059068 rs121918376
2 PYCR1 p.Arg119His VAR_059069 rs121918377
3 PYCR1 p.Ala179Thr VAR_059070 rs139751598
4 PYCR1 p.Gly206Arg VAR_059072 rs121918375
5 PYCR1 p.Gly206Trp VAR_059073 rs121918375
6 PYCR1 p.Arg266Gln VAR_059076 rs121918374

Expression for Cutis Laxa, Autosomal Recessive, Type Iib

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

Pathways for Cutis Laxa, Autosomal Recessive, Type Iib

GO Terms for Cutis Laxa, Autosomal Recessive, Type Iib

Cellular components related to Cutis Laxa, Autosomal Recessive, Type Iib according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microfibril GO:0001527 9.26 LTBP4 EFEMP2
2 elastic fiber GO:0071953 8.92 FBLN5 EFEMP2

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

# Name GO ID Score Top Affiliating Genes
1 proton transmembrane transport GO:1902600 9.8 SLC2A10 ATP6V1E1 ATP6V0A2
2 elastic fiber assembly GO:0048251 9.65 LTBP4 FBLN5 EFEMP2
3 L-proline biosynthetic process GO:0055129 9.56 PYCR3 PYCR2 PYCR1 ALDH18A1
4 amino acid biosynthetic process GO:0008652 9.46 PYCR3 PYCR2 PYCR1 ALDH18A1
5 proline biosynthetic process GO:0006561 9.17 PYCR3 PYCR2 PYCR1 ALDH18A1

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

# Name GO ID Score Top Affiliating Genes
1 proton-transporting ATPase activity, rotational mechanism GO:0046961 9.46 ATP6V1E1 ATP6V0A2
2 oxidoreductase activity GO:0016491 9.26 PYCR3 PYCR2 PYCR1 ALDH18A1
3 pyrroline-5-carboxylate reductase activity GO:0004735 9.1 PYCR3 PYCR2 PYCR1

Sources for Cutis Laxa, Autosomal Recessive, Type Iib

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 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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