CLSS
MCID: CNN011
MIFTS: 55

Cenani-Lenz Syndactyly Syndrome (CLSS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Cenani-Lenz Syndactyly Syndrome

MalaCards integrated aliases for Cenani-Lenz Syndactyly Syndrome:

Name: Cenani-Lenz Syndactyly Syndrome 57 11 73 28 12 5 14 38
Syndactyly Type 7 11 19 58 73
Cenani-Lenz Syndactyly 57 58 73
Cenani Syndactylism 57 19 73
Syndactyly Cenani Lenz Type 19 71
Cenani-Lenz Syndrome 58 73
Clss 57 73
Cenani-Lenz Type Syndactyly 19
Syndactyly, Type Vii 57
Syndactyly Type Vii 73
Cenani Syndactyly 58

Characteristics:


Inheritance:

Cenani-Lenz Syndactyly Syndrome: Autosomal recessive 57
Cenani-Lenz Syndrome: Autosomal recessive 58

Prevelance:

Cenani-Lenz Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Cenani-Lenz Syndrome: Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Cenani-Lenz Syndactyly Syndrome

UniProtKB/Swiss-Prot: 73 A congenital malformation syndrome defined as complete and complex syndactyly of the hands combined with malformations of the forearm bones and similar manifestations in the lower limbs. It is characterized by fusion and disorganization of metacarpal and phalangeal bones, radius and ulnar shortening, radioulnar synostosis, and severe syndactyly of hands and feet.

MalaCards based summary: Cenani-Lenz Syndactyly Syndrome, also known as syndactyly type 7, is related to chromosome 2q35 duplication syndrome and sclerosteosis 1. An important gene associated with Cenani-Lenz Syndactyly Syndrome is LRP4 (LDL Receptor Related Protein 4), and among its related pathways/superpathways are Malignant pleural mesothelioma and mTOR Signaling. Affiliated tissues include bone, kidney and bone marrow, and related phenotypes are frontal bossing and finger syndactyly

Disease Ontology: 11 A dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that has material basis in homozygous or compound heterozygous mutation in the LRP4 gene on chromosome 11p11.

GARD: 19 Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.

Orphanet: 58 Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.

More information from OMIM: 212780

Related Diseases for Cenani-Lenz Syndactyly Syndrome

Diseases related to Cenani-Lenz Syndactyly Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 chromosome 2q35 duplication syndrome 30.8 SOST LRP6 LRP5 LRP4 APC
2 sclerosteosis 1 30.8 SOST LRP4
3 sclerosteosis 30.5 SOST LRP6 LRP5 LRP4
4 sclerosteosis 2 30.1 SOST RAPSN MUSK LRP5 LRP4 DOK7
5 osteochondrodysplasia 30.0 SOST LRP6 LRP5 ANO5
6 renal hypodysplasia/aplasia 1 10.3
7 myasthenic syndrome, congenital, 17 10.3
8 apert syndrome 10.3
9 ectodermal dysplasia-syndactyly syndrome 1 10.3
10 scoliosis 10.3
11 renal hypoplasia 10.3
12 split hand-foot malformation 10.3
13 synostosis 10.3
14 ectodermal dysplasia 10.3
15 cleft lip 10.3
16 radioulnar synostosis 10.3
17 isolated split hand-split foot malformation 10.3
18 kabuki syndrome 1 10.3
19 trichomegaly 10.3
20 tooth agenesis 10.3
21 familial isolated trichomegaly 10.3
22 hypothyroidism 10.3
23 hypoglycemia 10.3
24 internuclear ophthalmoplegia 10.3 MUSK LRP4
25 craniodiaphyseal dysplasia 10.3 SOST LRP5
26 autosomal recessive congenital cerebellar ataxia 10.2 CA8 ATP8A2
27 tukel syndrome 10.2 CA8 ATP8A2
28 thymus gland disease 10.2 MUSK LRP4 AGRN
29 cleft palate, isolated 10.2
30 hypertelorism 10.2
31 familial adenomatous polyposis 1 10.2
32 synpolydactyly 2 10.2
33 familial adenomatous polyposis 10.2
34 thymus cancer 10.2 MUSK LRP4 AGRN
35 osteogenesis imperfecta, type xv 10.2 SOST LRP5
36 myasthenic syndrome, congenital, 12 10.2 RAPSN DOK7
37 osteopetrosis, autosomal dominant 1 10.1 LRP6 LRP5
38 barber-say syndrome 10.1 CA8 ATP8A2
39 polyhydramnios 10.1 RAPSN MUSK DOK7
40 mccune-albright syndrome 10.1 SOST LRP5 APC
41 myasthenic syndrome, congenital, 13 10.1 RAPSN DOK7 CHRNE
42 myasthenic syndrome, congenital, 10 10.1 MUSK DOK7
43 congenital myasthenic syndrome associated with acetylcholine receptor deficiency 10.1 RAPSN MUSK CHRNE
44 hyperostosis 10.1 SOST LRP5 LRP4
45 desmoid disease, hereditary 10.1 CHRNE APC
46 craniodiaphyseal dysplasia, autosomal dominant 10.1 SOST LRP6 LRP5
47 ectodermal dysplasia 13, hair/tooth type 10.1 SOST LRP6 LRP5
48 neonatal myasthenia gravis 10.1 RAPSN MUSK LRP4 AGRN
49 osteopathia striata with cranial sclerosis 10.1 SOST LRP6 LRP5
50 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency 10.1 RAPSN MUSK CHRNE

Graphical network of the top 20 diseases related to Cenani-Lenz Syndactyly Syndrome:



Diseases related to Cenani-Lenz Syndactyly Syndrome

Symptoms & Phenotypes for Cenani-Lenz Syndactyly Syndrome

Human phenotypes related to Cenani-Lenz Syndactyly Syndrome:

58 30 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002007
2 finger syndactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006101
3 synostosis of carpal bones 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005048
4 absent fingernail 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001817
5 abnormal metacarpal morphology 30 Hallmark (90%) HP:0005916
6 hypertelorism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000316
7 downslanted palpebral fissures 58 30 Frequent (33%) Frequent (79-30%)
HP:0000494
8 radioulnar synostosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002974
9 short thumb 58 30 Frequent (33%) Frequent (79-30%)
HP:0009778
10 toe syndactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0001770
11 hypoplasia of the ulna 58 30 Frequent (33%) Frequent (79-30%)
HP:0003022
12 hypoplasia of the radius 58 30 Frequent (33%) Frequent (79-30%)
HP:0002984
13 absent toenail 58 30 Frequent (33%) Frequent (79-30%)
HP:0001802
14 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002650
15 ptosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000508
16 nystagmus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000639
17 hypothyroidism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000821
18 hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000365
19 cataract 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000518
20 short nose 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003196
21 abnormal form of the vertebral bodies 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003312
22 high, narrow palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002705
23 abnormal dermatoglyphics 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007477
24 renal hypoplasia/aplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008678
25 laryngomalacia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001601
26 protruding ear 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000411
27 hip dislocation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002827
28 proptosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000520
29 malar flattening 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000272
30 short philtrum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000322
31 hypodontia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000668
32 convex nasal ridge 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000444
33 micromelia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002983
34 elbow dislocation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003042
35 ectropion 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000656
36 crossed fused renal ectopia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004736
37 foot oligodactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001849
38 abnormal rib morphology 30 Occasional (7.5%) HP:0000772
39 abnormal dental enamel morphology 30 Occasional (7.5%) HP:0000682
40 synostosis of joints 58 Very frequent (99-80%)
41 prominent forehead 30 HP:0011220
42 micrognathia 30 HP:0000347
43 abnormality of the ribs 58 Occasional (29-5%)
44 abnormality of dental enamel 58 Occasional (29-5%)
45 renal hypoplasia 30 HP:0000089
46 abnormality of the metacarpal bones 58 Very frequent (99-80%)
47 oligodactyly 58 Very frequent (99-80%)
48 renal agenesis 30 HP:0000104
49 syndactyly 30 HP:0001159

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures

Genitourinary Kidneys:
renal hypoplasia
renal aplasia

Skeletal Hands:
syndactyly, total or partial
synostosis
fused metacarpals
malformed phalanges

Head And Neck Face:
prominent forehead
micrognathia

Skeletal Limbs:
short radii
short ulnae
fused ulna and radius

Skeletal Feet:
syndactyly, total or partial
synostosis
fused metacarpals
malformed phalanges

Clinical features from OMIM®:

212780 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Cenani-Lenz Syndactyly Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.21 AGRN APC ATP8A2 CA8 CHRNE CLN3
2 homeostasis/metabolism MP:0005376 10.13 AGRN ANO5 APC ATP8A2 CLN3 LRP4
3 muscle MP:0005369 10.1 AGRN ANO5 APC CACNG1 CHRNE DOK7
4 growth/size/body region MP:0005378 10.07 AGRN ANO5 APC ATP8A2 CHRNE CLN3
5 behavior/neurological MP:0005386 10 AGRN ANO5 APC ATP8A2 CA8 CHRNE
6 limbs/digits/tail MP:0005371 9.91 AGRN ANO5 APC LRP4 LRP5 LRP6
7 respiratory system MP:0005388 9.56 AGRN CHRNE DOK7 LRP4 LRP6 MUSK
8 mortality/aging MP:0010768 9.44 AGRN APC ATP8A2 CHRNE CLN3 DOK7

Drugs & Therapeutics for Cenani-Lenz Syndactyly Syndrome

Search Clinical Trials, NIH Clinical Center for Cenani-Lenz Syndactyly Syndrome

Genetic Tests for Cenani-Lenz Syndactyly Syndrome

Genetic tests related to Cenani-Lenz Syndactyly Syndrome:

# Genetic test Affiliating Genes
1 Cenani-Lenz Syndactyly Syndrome 28 LRP4

Anatomical Context for Cenani-Lenz Syndactyly Syndrome

Organs/tissues related to Cenani-Lenz Syndactyly Syndrome:

MalaCards : Bone, Kidney, Bone Marrow, Liver, Smooth Muscle, Adipocyte, Prostate
ODiseA: Kidney

Publications for Cenani-Lenz Syndactyly Syndrome

Articles related to Cenani-Lenz Syndactyly Syndrome:

(show top 50) (show all 192)
# Title Authors PMID Year
1
LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome. 62 57 5
20381006 2010
2
Cenani-Lenz syndactyly with facial dysmorphism, hypothyroidism, and renal hypoplasia: a case report. 62 57 5
18978656 2008
3
Mild facial dysmorphism and quasidominant inheritance in Cenani-Lenz syndrome. 62 57 5
12868467 2003
4
Two unusual types of syndactyly in the same family; Cenani-Lenz type and "new" type versus severe type I syndactyly? 62 57 5
14577675 2003
5
Cenani-Lenz syndrome with renal hypoplasia is not linked to FORMIN or GREMLIN. 62 57 5
11260233 2001
6
A variant of Cenani-Lenz type syndactyly. 62 57 5
10756427 2000
7
Dermatoglyphics in patients with Cenani-Lenz type syndactyly: studies in a new case. 62 57 5
9182770 1997
8
Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms. 62 5
28559208 2017
9
Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani-Lenz syndrome. 62 5
24924585 2014
10
Severe Cenani-Lenz syndrome caused by loss of LRP4 function. 62 5
23636941 2013
11
Present nosology of the Cenani-Lenz type of syndactyly. 57
6279340 1982
12
Comparison of Robotic and Laparoscopic Colectomies Using the 2019 ACS NSQIP Database. 62
36455896 2022
13
A comparison study on patient-reported outcome between obese and non-obese patients with central lumbar spinal stenosis undergoing surgical decompression: 14,984 patients in the National Swedish Quality Registry for Spine Surgery. 62
36445071 2022
14
Reliability and validity of the Turkish language version of the Core Lower Urinary Tract Symptom Score. 62
36319194 2022
15
The prevalence of redundant nerve roots in standing positional MRI decreases by half in supine and almost to zero in flexed seated position: a retrospective cross-sectional cohort study. 62
36083504 2022
16
Multiple ciliary localization signals control INPP5E ciliary targeting. 62
36063381 2022
17
Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome. 62
34857885 2022
18
The Relationship Between Urinary Symptom Severity And Functional Status İn Patients With Stroke. 62
34985348 2022
19
Intradural Disc Herniation in the Setting of Congenital Lumbar Spinal Stenosis. 62
33901524 2022
20
Use of Community Listening Sessions to Disseminate Research Findings to Past Participants and Communities. 62
34625863 2022
21
Role of Subcutaneous Adipose Tissues in the Pathophysiology of Secondary Lymphedema. 62
35394362 2022
22
Beneficial Effects of Saw Palmetto Fruit Extract on Urinary Symptoms in Japanese Female Subjects by a Multicenter, Randomized, Double-Blind, Placebo-Controlled Study. 62
35334848 2022
23
Automated Global Longitudinal Strain Assessment in Long-Term Survivors of Childhood Acute Lymphoblastic Leukemia. 62
35326663 2022
24
Fully Endoscopic 360° Decompression for Central Lumbar Spinal Stenosis Combined with Disc Herniation: Technical Note and Preliminary Outcomes of 39 Cases. 62
36124038 2022
25
To Assess Whether Lee's Grading System for Central Lumbar Spinal Stenosis Can Be Used as a Decision-Making Tool for Surgical Treatment. 62
36237366 2022
26
The association between the parameters of uroflowmetry and lower urinary tract symptoms in prostate cancer patients after robot-assisted radical prostatectomy. 62
36201466 2022
27
Catheter lock solutions for reducing catheter-related bloodstream infections in paediatric patients: a network meta-analysis. 62
34560168 2021
28
Omental Macrophagic "Crown-like Structures" Are Associated with Poor Prognosis in Advanced-Stage Serous Ovarian Cancer. 62
34677277 2021
29
Comparison of Ciliary Targeting of Two Rhodopsin-Like GPCRs: Role of C-Terminal Localization Sequences in Relation to Cilium Type. 62
34301828 2021
30
Relationship between Preoperative Neuroradiological Findings and Intraoperative Bulbocavernosus Reflex Amplitude in Patients with Intradural Extramedullary Tumors. 62
34078828 2021
31
Flexible cystoscopy can improve anxiety and subjective feelings of bladder cancer patients during follow-up. 62
34136037 2021
32
Safety, Pharmacokinetics and Pharmacodynamics of Multiple Escalating Doses of PEGylated Exenatide (PB-119) in Healthy Volunteers. 62
33576936 2021
33
Iron-rich Kupffer cells exhibit phenotypic changes during the development of liver fibrosis in NASH. 62
33521599 2021
34
Lethal Cenani Lenz syndrome in two consecutive pregnancies: Further extension of phenotype from Maldives. 62
33179409 2021
35
3D microscopy and deep learning reveal the heterogeneity of crown-like structure microenvironments in intact adipose tissue. 62
33597245 2021
36
HTR6 and SSTR3 targeting to primary cilia. 62
33599752 2021
37
A whole-genome sequencing study of an X-family tuberculosis outbreak focus on transmission chain along 25 years. 62
33341027 2021
38
Implementation of a Humanoid Robot as an Innovative Approach to Child Life Interventions in a Children's Hospital: Lofty Goal or Tangible Reality? 62
33953689 2021
39
Necroptosis in Macrophage Foam Cells Promotes Fat Graft Fibrosis in Mice. 62
33842478 2021
40
Perspectives of Child Life Specialists After Many Years of Working With a Humanoid Robot in a Pediatric Hospital: Narrative Design. 62
33211014 2020
41
Enduring language deficits in children of women with epilepsy and the potential role of intrauterine exposure to antiepileptic drugs. 62
33345345 2020
42
Twenty-four-Hour Intraocular Pressure-Related Patterns from Contact Lens Sensors in Normal-Tension Glaucoma and Healthy Eyes: The Exploring Nyctohemeral Intraocular pressure related pattern for Glaucoma Management (ENIGMA) Study. 62
32417391 2020
43
Degenerative central lumbar spinal stenosis: is endoscopic decompression through bilateral transforaminal approach sufficient? 62
33129294 2020
44
Use of Catheter Lock Solutions in Patients Receiving Home Parenteral Nutrition: A Systematic Review and Individual-Patient Data Meta-Analysis. 62
31985068 2020
45
Van Wyk-Grumbach syndrome and oligosyndactyly in a 6-year-old girl: a case report. 62
32933589 2020
46
Pleiotropic Effects of Statins in the Light of Non-Alcoholic Fatty Liver Disease and Non-Alcoholic Steatohepatitis. 62
33072455 2020
47
Maternal high-fat diet exaggerates diet-induced insulin resistance in adult offspring by enhancing inflammasome activation through noncanonical pathway of caspase-11. 62
32272237 2020
48
All Insulin Pumps Are Not Equivalent: A Bench Test Assessment for Several Basal Rates. 62
32069066 2020
49
A novel biallelic splice-site variant in the LRP4 gene causes sclerosteosis 2. 62
32286743 2020
50
Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia. 62
31895055 2020

Variations for Cenani-Lenz Syndactyly Syndrome

ClinVar genetic disease variations for Cenani-Lenz Syndactyly Syndrome:

5 (show top 50) (show all 659)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LRP4 NM_002334.4(LRP4):c.1585G>A (p.Asp529Asn) SNV Pathogenic
5686 rs267607220 GRCh37: 11:46914636-46914636
GRCh38: 11:46893085-46893085
2 LRP4 NM_002334.4(LRP4):c.409G>A (p.Asp137Asn) SNV Pathogenic
5687 rs267607222 GRCh37: 11:46921435-46921435
GRCh38: 11:46899884-46899884
3 LRP4, LRP4-AS1 NM_002334.4(LRP4):c.4959C>G (p.Gly1653=) SNV Pathogenic
5688 GRCh37: 11:46889658-46889658
GRCh38: 11:46868107-46868107
4 LRP4 NM_002334.4(LRP4):c.479G>A (p.Cys160Tyr) SNV Pathogenic
5690 rs267607221 GRCh37: 11:46921006-46921006
GRCh38: 11:46899455-46899455
5 LRP4 NM_002334.4(LRP4):c.1345G>A (p.Asp449Asn) SNV Pathogenic
5691 rs267607224 GRCh37: 11:46916335-46916335
GRCh38: 11:46894784-46894784
6 LRP4 NM_002334.4(LRP4):c.1381A>C (p.Thr461Pro) SNV Pathogenic
5692 rs267607223 GRCh37: 11:46916299-46916299
GRCh38: 11:46894748-46894748
7 LRP4 NM_002334.4(LRP4):c.200-9G>A SNV Pathogenic
5693 rs1565801326 GRCh37: 11:46921938-46921938
GRCh38: 11:46900387-46900387
8 LRP4 NM_002334.4(LRP4):c.316+1G>A SNV Pathogenic
428601 rs780336679 GRCh37: 11:46921812-46921812
GRCh38: 11:46900261-46900261
9 LRP4 NM_002334.4(LRP4):c.2260C>T (p.Arg754Ter) SNV Pathogenic
1393202 GRCh37: 11:46908040-46908040
GRCh38: 11:46886489-46886489
10 LRP4 NM_002334.4(LRP4):c.2866G>T (p.Glu956Ter) SNV Pathogenic
576661 rs1565785959 GRCh37: 11:46900815-46900815
GRCh38: 11:46879264-46879264
11 LRP4 NM_002334.4(LRP4):c.547+1G>A SNV Pathogenic
Likely Pathogenic
5689 rs762425885 GRCh37: 11:46920937-46920937
GRCh38: 11:46899386-46899386
12 LRP4 NM_002334.4(LRP4):c.1894C>T (p.Arg632Cys) SNV Likely Pathogenic
982961 rs1941393359 GRCh37: 11:46911849-46911849
GRCh38: 11:46890298-46890298
13 LRP4 NM_002334.4(LRP4):c.1560G>A (p.Trp520Ter) SNV Likely Pathogenic
1179057 GRCh37: 11:46914661-46914661
GRCh38: 11:46893110-46893110
14 LRP4 NM_002334.4(LRP4):c.1184-1G>A SNV Likely Pathogenic
1179202 GRCh37: 11:46916843-46916843
GRCh38: 11:46895292-46895292
15 LRP4, LRP4-AS1 NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys) SNV Conflicting Interpretations Of Pathogenicity
Likely Benign
282957 rs149082597 GRCh37: 11:46880592-46880592
GRCh38: 11:46859041-46859041
16 LRP4 NM_002334.4(LRP4):c.3472C>T (p.Arg1158Trp) SNV Conflicting Interpretations Of Pathogenicity
304870 rs886048351 GRCh37: 11:46898081-46898081
GRCh38: 11:46876530-46876530
17 LRP4 NM_002334.4(LRP4):c.1832G>A (p.Arg611His) SNV Uncertain Significance
650564 rs140282454 GRCh37: 11:46911911-46911911
GRCh38: 11:46890360-46890360
18 LRP4 NM_002334.4(LRP4):c.1048+7G>T SNV Uncertain Significance
Likely Benign
288216 rs148557097 GRCh37: 11:46917754-46917754
GRCh38: 11:46896203-46896203
19 LRP4 NM_002334.4(LRP4):c.3073G>C (p.Gly1025Arg) SNV Uncertain Significance
Uncertain Significance
806670 rs141565454 GRCh37: 11:46900521-46900521
GRCh38: 11:46878970-46878970
20 LRP4 NM_002334.4(LRP4):c.639C>T (p.Asp213=) SNV Uncertain Significance
Likely Benign
281776 rs144974139 GRCh37: 11:46920492-46920492
GRCh38: 11:46898941-46898941
21 LRP4 NM_002334.4(LRP4):c.1551T>C (p.Ala517=) SNV Uncertain Significance
Benign
194206 rs150777198 GRCh37: 11:46914670-46914670
GRCh38: 11:46893119-46893119
22 LRP4 NM_002334.4(LRP4):c.1491C>T (p.Leu497=) SNV Uncertain Significance
Likely Benign
772181 rs146501212 GRCh37: 11:46916189-46916189
GRCh38: 11:46894638-46894638
23 LRP4 NM_002334.4(LRP4):c.4183G>A (p.Val1395Met) SNV Uncertain Significance
872376 rs774275092 GRCh37: 11:46896397-46896397
GRCh38: 11:46874846-46874846
24 LRP4 NM_002334.4(LRP4):c.560C>T (p.Pro187Leu) SNV Uncertain Significance
1713493 GRCh37: 11:46920571-46920571
GRCh38: 11:46899020-46899020
25 LRP4 NM_002334.4(LRP4):c.2201A>C (p.His734Pro) SNV Uncertain Significance
1713966 GRCh37: 11:46910976-46910976
GRCh38: 11:46889425-46889425
26 LRP4 NM_002334.4(LRP4):c.274G>C (p.Gly92Arg) SNV Uncertain Significance
1716616 GRCh37: 11:46921855-46921855
GRCh38: 11:46900304-46900304
27 LRP4, LRP4-AS1 NM_002334.4(LRP4):c.5577C>G (p.Asp1859Glu) SNV Uncertain Significance
1713599 GRCh37: 11:46880675-46880675
GRCh38: 11:46859124-46859124
28 LRP4 NM_002334.3(LRP4):c.-193C>G SNV Uncertain Significance
304910 rs886048360 GRCh37: 11:46940123-46940123
GRCh38: 11:46918572-46918572
29 LRP4 NM_002334.3(LRP4):c.-174G>A SNV Uncertain Significance
877192 rs1331428298 GRCh37: 11:46940104-46940104
GRCh38: 11:46918553-46918553
30 LRP4 NM_002334.3(LRP4):c.-193C>A SNV Uncertain Significance
877193 rs886048360 GRCh37: 11:46940123-46940123
GRCh38: 11:46918572-46918572
31 LRP4 NM_002334.4(LRP4):c.2758G>A (p.Ala920Thr) SNV Uncertain Significance
1413120 GRCh37: 11:46903309-46903309
GRCh38: 11:46881758-46881758
32 LRP4 NM_002334.4(LRP4):c.2070G>C (p.Leu690Phe) SNV Uncertain Significance
1428884 GRCh37: 11:46911517-46911517
GRCh38: 11:46889966-46889966
33 LRP4, LRP4-AS1 NM_002334.4(LRP4):c.5362A>C (p.Asn1788His) SNV Uncertain Significance
1430528 GRCh37: 11:46884180-46884180
GRCh38: 11:46862629-46862629
34 LRP4 NM_002334.4(LRP4):c.3141G>A (p.Met1047Ile) SNV Uncertain Significance
1462963 GRCh37: 11:46898886-46898886
GRCh38: 11:46877335-46877335
35 LRP4 NM_002334.4(LRP4):c.3551C>T (p.Thr1184Ile) SNV Uncertain Significance
1437448 GRCh37: 11:46897503-46897503
GRCh38: 11:46875952-46875952
36 LRP4, LRP4-AS1 NM_002334.4(LRP4):c.4923C>T (p.Asp1641=) SNV Uncertain Significance
Likely Benign
304852 rs150734530 GRCh37: 11:46890179-46890179
GRCh38: 11:46868628-46868628
37 LRP4 NM_002334.4(LRP4):c.3752C>T (p.Pro1251Leu) SNV Uncertain Significance
Uncertain Significance
304866 rs145422541 GRCh37: 11:46897180-46897180
GRCh38: 11:46875629-46875629
38 LRP4 NM_002334.4(LRP4):c.2325T>G (p.Ala775=) SNV Uncertain Significance
Likely Benign
304879 rs886048354 GRCh37: 11:46907975-46907975
GRCh38: 11:46886424-46886424
39 LRP4 NM_002334.4(LRP4):c.1435C>T (p.Arg479Cys) SNV Uncertain Significance
Uncertain Significance
304888 rs143207358 GRCh37: 11:46916245-46916245
GRCh38: 11:46894694-46894694
40 LRP4 NM_002334.4(LRP4):c.3919C>T (p.Pro1307Ser) SNV Uncertain Significance
467788 rs771126504 GRCh37: 11:46897013-46897013
GRCh38: 11:46875462-46875462
41 LRP4 NM_002334.4(LRP4):c.299C>T (p.Ser100Leu) SNV Uncertain Significance
467785 rs762837686 GRCh37: 11:46921830-46921830
GRCh38: 11:46900279-46900279
42 LRP4, LRP4-AS1 NM_002334.4(LRP4):c.4505A>C (p.Asp1502Ala) SNV Uncertain Significance
467790 rs200506943 GRCh37: 11:46894729-46894729
GRCh38: 11:46873178-46873178
43 LRP4 NM_002334.4(LRP4):c.1480C>T (p.Arg494Cys) SNV Uncertain Significance
Uncertain Significance
304887 rs749530671 GRCh37: 11:46916200-46916200
GRCh38: 11:46894649-46894649
44 LRP4 NM_002334.4(LRP4):c.282C>T (p.Asn94=) SNV Uncertain Significance
Likely Benign
304903 rs17848224 GRCh37: 11:46921847-46921847
GRCh38: 11:46900296-46900296
45 LRP4, LRP4-AS1 NM_002334.4(LRP4):c.5650A>G (p.Arg1884Gly) SNV Uncertain Significance
Uncertain Significance
304845 rs377204138 GRCh37: 11:46880602-46880602
GRCh38: 11:46859051-46859051
46 LRP4 NM_002334.4(LRP4):c.3064A>G (p.Asn1022Asp) SNV Uncertain Significance
Likely Benign
304873 rs61742871 GRCh37: 11:46900530-46900530
GRCh38: 11:46878979-46878979
47 LRP4, LRP4-AS1 NM_002334.4(LRP4):c.5330A>C (p.Lys1777Thr) SNV Uncertain Significance
Likely Benign
304848 rs541585714 GRCh37: 11:46884212-46884212
GRCh38: 11:46862661-46862661
48 LRP4 NM_002334.4(LRP4):c.1769G>A (p.Arg590His) SNV Uncertain Significance
Uncertain Significance
304882 rs149435615 GRCh37: 11:46911974-46911974
GRCh38: 11:46890423-46890423
49 LRP4 NM_002334.4(LRP4):c.3620A>G (p.Asn1207Ser) SNV Uncertain Significance
Likely Benign
286738 rs151234321 GRCh37: 11:46897434-46897434
GRCh38: 11:46875883-46875883
50 LRP4, LRP4-AS1 NM_002334.4(LRP4):c.5520T>C (p.His1840=) SNV Uncertain Significance
Likely Benign
304846 rs144350829 GRCh37: 11:46880732-46880732
GRCh38: 11:46859181-46859181

UniProtKB/Swiss-Prot genetic disease variations for Cenani-Lenz Syndactyly Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 LRP4 p.Asp137Asn VAR_063776 rs267607222
2 LRP4 p.Cys160Tyr VAR_063777 rs267607221
3 LRP4 p.Asp449Asn VAR_063778 rs267607224
4 LRP4 p.Thr461Pro VAR_063779 rs267607223
5 LRP4 p.Leu473Phe VAR_063780
6 LRP4 p.Asp529Asn VAR_063781 rs267607220
7 LRP4 p.Cys1017Arg VAR_063782

Expression for Cenani-Lenz Syndactyly Syndrome

Search GEO for disease gene expression data for Cenani-Lenz Syndactyly Syndrome.

Pathways for Cenani-Lenz Syndactyly Syndrome

GO Terms for Cenani-Lenz Syndactyly Syndrome

Cellular components related to Cenani-Lenz Syndactyly Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016021 10.44 STIMATE SCN4A MUSK LRP6 LRP5 LRP4
2 membrane GO:0016020 10.44 STIMATE SCN4A MUSK LRP6 LRP5 LRP4
3 synapse GO:0045202 10 AGRN CHRNE CLN3 DOK7 LRP6 MUSK
4 neuromuscular junction GO:0031594 9.56 RAPSN MUSK LRP4 CHRNE
5 Wnt-Frizzled-LRP5/6 complex GO:1990851 9.46 LRP6 LRP5
6 Wnt signalosome GO:1990909 9.1 LRP6 LRP5 APC

Biological processes related to Cenani-Lenz Syndactyly Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 skeletal muscle acetylcholine-gated channel clustering GO:0071340 9.46 MUSK LRP4
2 neuromuscular junction development GO:0007528 9.43 MUSK DOK7 AGRN
3 Wnt signaling pathway GO:0016055 9.23 SOST LRP6 LRP5 LRP4 APC

Molecular functions related to Cenani-Lenz Syndactyly Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 toxin transmembrane transporter activity GO:0019534 9.33 LRP6 LRP5
2 coreceptor activity involved in canonical Wnt signaling pathway GO:1904928 9.26 LRP6 LRP5
3 coreceptor activity involved in Wnt signaling pathway GO:0071936 8.92 LRP6 LRP5

Sources for Cenani-Lenz Syndactyly Syndrome

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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