CLSS
MCID: CNN011
MIFTS: 52

Cenani-Lenz Syndactyly Syndrome (CLSS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Cenani-Lenz Syndactyly Syndrome

MalaCards integrated aliases for Cenani-Lenz Syndactyly Syndrome:

Name: Cenani-Lenz Syndactyly Syndrome 57 12 72 36 29 13 6 15
Syndactyly Type 7 12 20 58 72
Cenani-Lenz Syndactyly 57 58 72
Cenani Syndactylism 57 20 72
Syndactyly Cenani Lenz Type 20 70
Cenani-Lenz Syndrome 58 72
Clss 57 72
Syndrome, Cenani-Lenz Syndactyly 39
Cenani-Lenz Type Syndactyly 20
Syndactyly, Type Vii 57
Syndactyly Type Vii 72
Cenani Syndactyly 58

Characteristics:

Orphanet epidemiological data:

58
cenani-lenz syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
cenani-lenz syndactyly syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Cenani-Lenz Syndactyly Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3258 Definition 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. Epidemiology Fewer than 30 cases have been described and the exact incidence has not been evaluated. The majority of cases occurred in related families. Clinical description Classical CLS is characterized by the almost symmetrical presence of a total fusion of fingers and synostosis of the hand bones, giving the hands a mitten-like appearance. A variant of the syndrome, with oligodactyly and partial syndactyly, has been reported. The following features characterize the syndrome: carpal, metacarpal and digital synostoses, disorganization of the carpal bones, numeric reduction of the digital rays and toe syndactyly. Other features are radioulnar synostosis with shortening of the radius and ulna, brachymesomelia, radius head dislocation and metatarsal synostoses. The syndrome affects both the upper and lower limbs but, in general, the latter are less severely affected. Associated malformations (renal hypoplasia and vertebral and hemivertebral anomalies) have occasionally been reported. A few publications associate CLS with other, more frequent, forms of syndactyly. Mild facial dysmorphism ( ptosis, high-arched palate, high, broad and prominent forehead, hypertelorism, flat nasal bridge, down slanting palpebral fissures, short nose, short prominent philtrum and malar hypoplasia) has been described in isolated cases. Etiology The disease is transmitted as an autosomal recessive trait. Homozygous or compound heterozygous mutations of the LRP4 gene (11p12-p11.2) have been identified. A heterozygous duplication of 1.7 Mb covering the GREM1 and FMN1 genes has also been reported in a CLS-like form of the syndrome. Diagnostic methods Diagnosis is essentially clinical. Differential diagnosis CLS can be distinguished clinically from other limb malformations. Antenatal diagnosis Diagnosis can be suspected antenatally by ultrasonography. As an autosomal recessive syndrome, recurrence risk for CLS is 25% for a subsequent pregnancy. Management and treatment Surgical treatment with reconstruction of an individualized finger is recommended but the functional results of syndactyly release may be unsatisfactory. Prognosis Functional prognosis depends on the specific limb anomalies of the patient.

MalaCards based summary : Cenani-Lenz Syndactyly Syndrome, also known as syndactyly type 7, is related to chromosome 2q35 duplication syndrome and renal hypodysplasia/aplasia 1. An important gene associated with Cenani-Lenz Syndactyly Syndrome is LRP4 (LDL Receptor Related Protein 4), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and Wnt Signaling Pathway and Pluripotency. Affiliated tissues include thymus, bone and kidney, and related phenotypes are frontal bossing and finger syndactyly

Disease Ontology : 12 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.

KEGG : 36 Cenani-Lenz syndactyly syndrome is an autosomal-recessive congenital malformation syndrome characterized by syndactyly and/or oligodactyly and kidney anomalies. The cause of Cenani-Lenz syndactyly syndrome is LRP4, a low-density lipoprotein receptor that modulates Wnt signaling.

UniProtKB/Swiss-Prot : 72 Cenani-Lenz syndactyly syndrome: 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.

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 63)
# Related Disease Score Top Affiliating Genes
1 chromosome 2q35 duplication syndrome 30.6 SOST NECTIN4 LRP4
2 renal hypodysplasia/aplasia 1 10.3
3 apert syndrome 10.3
4 ectodermal dysplasia-syndactyly syndrome 1 10.3
5 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
6 autosomal recessive disease 10.3
7 scoliosis 10.3
8 renal hypoplasia 10.3
9 split hand-foot malformation 10.3
10 synostosis 10.3
11 ectodermal dysplasia 10.3
12 cleft lip 10.3
13 radioulnar synostosis 10.3
14 myasthenic syndrome, congenital, 17 10.3 LRP4-AS1 LRP4
15 kabuki syndrome 1 10.2
16 tooth agenesis 10.2
17 familial isolated trichomegaly 10.2
18 hypothyroidism 10.2
19 hypoglycemia 10.2
20 myasthenic syndrome, congenital, 13 10.2 RAPSN DOK7
21 cleft palate, isolated 10.2
22 hypertelorism 10.2
23 familial adenomatous polyposis 1 10.2
24 synpolydactyly 2 10.2
25 familial adenomatous polyposis 10.2
26 osteochondrodysplasia 10.2
27 apc-associated polyposis conditions 10.2
28 myasthenic syndrome, congenital, 21, presynaptic 10.1 RAPSN DOK7 AGRN
29 neonatal myasthenia gravis 10.1 MUSK LRP4 AGRN
30 myasthenic syndrome, congenital, 19 10.1 RAPSN MUSK DOK7
31 thymus gland disease 10.1 MUSK LRP4 AGRN
32 thymus cancer 10.1 MUSK LRP4 AGRN
33 autoimmune disease of peripheral nervous system 10.1 RAPSN MUSK AGRN
34 polyhydramnios 10.0 RAPSN MUSK DOK7
35 barber-say syndrome 10.0 WDR81 CA8 ATP8A2
36 fetal akinesia deformation sequence 1 10.0 RAPSN MUSK DOK7
37 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 10.0 WDR81 CA8 ATP8A2
38 myasthenia gravis 10.0 RAPSN MUSK LRP4 AGRN
39 ptosis 9.9 RAPSN MUSK LRP4 DOK7
40 pelvic organ prolapse 9.9
41 low compliance bladder 9.9
42 interstitial cystitis 9.9
43 cystitis 9.9
44 peripheral nervous system disease 9.9 RAPSN MUSK DOK7 AGRN
45 congenital myasthenic syndrome associated with acetylcholine receptor deficiency 9.9 RAPSN MUSK
46 muscular dystrophy, congenital, lmna-related 9.9 RAPSN DOK7 AGRN
47 craniodiaphyseal dysplasia 9.8 SOST LRP5
48 postsynaptic congenital myasthenic syndromes 9.8 RAPSN MUSK LRP4 DOK7 AGRN
49 congenital myasthenic syndrome 9.8 RAPSN MUSK LRP4 DOK7 AGRN
50 neuromuscular junction disease 9.8 RAPSN MUSK LRP4 DOK7 AGRN

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 31 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
2 finger syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0006101
3 abnormality of the metacarpal bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0001163
4 synostosis of carpal bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0005048
5 absent fingernail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001817
6 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
7 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
8 radioulnar synostosis 58 31 frequent (33%) Frequent (79-30%) HP:0002974
9 short thumb 58 31 frequent (33%) Frequent (79-30%) HP:0009778
10 toe syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001770
11 hypoplasia of the ulna 58 31 frequent (33%) Frequent (79-30%) HP:0003022
12 hypoplasia of the radius 58 31 frequent (33%) Frequent (79-30%) HP:0002984
13 absent toenail 58 31 frequent (33%) Frequent (79-30%) HP:0001802
14 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
15 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
16 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
17 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
18 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
19 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
20 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
21 abnormal form of the vertebral bodies 58 31 occasional (7.5%) Occasional (29-5%) HP:0003312
22 high, narrow palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002705
23 abnormal dermatoglyphics 58 31 occasional (7.5%) Occasional (29-5%) HP:0007477
24 renal hypoplasia/aplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008678
25 abnormality of the ribs 58 31 occasional (7.5%) Occasional (29-5%) HP:0000772
26 laryngomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001601
27 protruding ear 58 31 occasional (7.5%) Occasional (29-5%) HP:0000411
28 abnormality of dental enamel 58 31 occasional (7.5%) Occasional (29-5%) HP:0000682
29 hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002827
30 proptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000520
31 malar flattening 58 31 occasional (7.5%) Occasional (29-5%) HP:0000272
32 short philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000322
33 hypodontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000668
34 convex nasal ridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000444
35 micromelia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002983
36 elbow dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0003042
37 ectropion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000656
38 crossed fused renal ectopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004736
39 foot oligodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001849
40 synostosis of joints 58 Very frequent (99-80%)
41 prominent forehead 31 HP:0011220
42 micrognathia 31 HP:0000347
43 renal hypoplasia 31 HP:0000089
44 oligodactyly 58 Very frequent (99-80%)
45 renal agenesis 31 HP:0000104
46 syndactyly 31 HP:0001159

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

MGI Mouse Phenotypes related to Cenani-Lenz Syndactyly Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.02 AGRN APC CA8 DOK7 LRP4 LRP5
2 limbs/digits/tail MP:0005371 9.73 AGRN APC LRP4 LRP5 LRP6 SOST
3 muscle MP:0005369 9.7 AGRN APC CACNG1 DOK7 LRP4 MUSK
4 nervous system MP:0003631 9.65 AGRN APC CA8 DOK7 LRP4 LRP5
5 respiratory system MP:0005388 9.1 AGRN DOK7 LRP4 LRP6 MUSK RAPSN

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 29 LRP4

Anatomical Context for Cenani-Lenz Syndactyly Syndrome

MalaCards organs/tissues related to Cenani-Lenz Syndactyly Syndrome:

40
Thymus, Bone, Kidney

Publications for Cenani-Lenz Syndactyly Syndrome

Articles related to Cenani-Lenz Syndactyly Syndrome:

(show all 16)
# Title Authors PMID Year
1
LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome. 6 57
20381006 2010
2
Cenani-Lenz syndactyly with facial dysmorphism, hypothyroidism, and renal hypoplasia: a case report. 6 57
18978656 2008
3
Mild facial dysmorphism and quasidominant inheritance in Cenani-Lenz syndrome. 6 57
12868467 2003
4
Two unusual types of syndactyly in the same family; Cenani-Lenz type and "new" type versus severe type I syndactyly? 57 6
14577675 2003
5
Cenani-Lenz syndrome with renal hypoplasia is not linked to FORMIN or GREMLIN. 57 6
11260233 2001
6
A variant of Cenani-Lenz type syndactyly. 57 6
10756427 2000
7
Dermatoglyphics in patients with Cenani-Lenz type syndactyly: studies in a new case. 57 6
9182770 1997
8
Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms. 6 61
28559208 2017
9
Present nosology of the Cenani-Lenz type of syndactyly. 57
6279340 1982
10
Van Wyk-Grumbach syndrome and oligosyndactyly in a 6-year-old girl: a case report. 61
32933589 2020
11
A novel biallelic splice-site variant in the LRP4 gene causes sclerosteosis 2. 61
32286743 2020
12
Novel missense alteration in LRP4 gene underlies Cenani-Lenz syndactyly syndrome in a consanguineous family. 61
31750994 2020
13
Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly. 61
30041615 2018
14
Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers. 61
29524275 2018
15
LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner. 61
24234652 2014
16
[Genetic defects and disorders at the neuromuscular junction]. 61
21747136 2011

Variations for Cenani-Lenz Syndactyly Syndrome

ClinVar genetic disease variations for Cenani-Lenz Syndactyly Syndrome:

6 (show top 50) (show all 395)
# 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, 4959G-C SNV Pathogenic 5688 GRCh37:
GRCh38:
4 LRP4 NM_002334.4(LRP4):c.547+1G>A SNV Pathogenic 5689 rs762425885 GRCh37: 11:46920937-46920937
GRCh38: 11:46899386-46899386
5 LRP4 NM_002334.4(LRP4):c.479G>A (p.Cys160Tyr) SNV Pathogenic 5690 rs267607221 GRCh37: 11:46921006-46921006
GRCh38: 11:46899455-46899455
6 LRP4 NM_002334.4(LRP4):c.1345G>A (p.Asp449Asn) SNV Pathogenic 5691 rs267607224 GRCh37: 11:46916335-46916335
GRCh38: 11:46894784-46894784
7 LRP4 NM_002334.4(LRP4):c.1381A>C (p.Thr461Pro) SNV Pathogenic 5692 rs267607223 GRCh37: 11:46916299-46916299
GRCh38: 11:46894748-46894748
8 LRP4 NM_002334.4(LRP4):c.200-9G>A SNV Pathogenic 5693 rs1565801326 GRCh37: 11:46921938-46921938
GRCh38: 11:46900387-46900387
9 LRP4 NM_002334.4(LRP4):c.316+1G>A SNV Pathogenic 428601 rs780336679 GRCh37: 11:46921812-46921812
GRCh38: 11:46900261-46900261
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.1894C>T (p.Arg632Cys) SNV Likely pathogenic 982961 GRCh37: 11:46911849-46911849
GRCh38: 11:46890298-46890298
12 LRP4 , LRP4-AS1 NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys) SNV Conflicting interpretations of pathogenicity 282957 rs149082597 GRCh37: 11:46880592-46880592
GRCh38: 11:46859041-46859041
13 LRP4 , LRP4-AS1 NM_002334.4(LRP4):c.5182A>G (p.Ile1728Val) SNV Uncertain significance 288220 rs148865136 GRCh37: 11:46886060-46886060
GRCh38: 11:46864509-46864509
14 LRP4 NM_002334.4(LRP4):c.3278-6C>T SNV Uncertain significance 304871 rs373579793 GRCh37: 11:46898387-46898387
GRCh38: 11:46876836-46876836
15 LRP4 , LRP4-AS1 NM_002334.4(LRP4):c.*1064C>G SNV Uncertain significance 304832 rs886048343 GRCh37: 11:46879470-46879470
GRCh38: 11:46857919-46857919
16 LRP4 , LRP4-AS1 NM_002334.4(LRP4):c.4923C>T (p.Asp1641=) SNV Uncertain significance 304852 rs150734530 GRCh37: 11:46890179-46890179
GRCh38: 11:46868628-46868628
17 LRP4 NM_002334.4(LRP4):c.3752C>T (p.Pro1251Leu) SNV Uncertain significance 304866 rs145422541 GRCh37: 11:46897180-46897180
GRCh38: 11:46875629-46875629
18 LRP4 NM_002334.4(LRP4):c.1769G>A (p.Arg590His) SNV Uncertain significance 304882 rs149435615 GRCh37: 11:46911974-46911974
GRCh38: 11:46890423-46890423
19 LRP4 NM_002334.4(LRP4):c.734A>G (p.Asn245Ser) SNV Uncertain significance 304898 rs781770287 GRCh37: 11:46920171-46920171
GRCh38: 11:46898620-46898620
20 LRP4 NM_002334.4(LRP4):c.3620A>G (p.Asn1207Ser) SNV Uncertain significance 286738 rs151234321 GRCh37: 11:46897434-46897434
GRCh38: 11:46875883-46875883
21 LRP4 , LRP4-AS1 NM_002334.4(LRP4):c.5520T>C (p.His1840=) SNV Uncertain significance 304846 rs144350829 GRCh37: 11:46880732-46880732
GRCh38: 11:46859181-46859181
22 LRP4 NM_002334.3(LRP4):c.-193C>G SNV Uncertain significance 304910 rs886048360 GRCh37: 11:46940123-46940123
GRCh38: 11:46918572-46918572
23 LRP4 , LRP4-AS1 NM_002334.4(LRP4):c.*2082dup Duplication Uncertain significance 304826 rs886048340 GRCh37: 11:46878451-46878452
GRCh38: 11:46856900-46856901
24 LRP4 , LRP4-AS1 NM_002334.4(LRP4):c.*1662C>A SNV Uncertain significance 304829 rs886048341 GRCh37: 11:46878872-46878872
GRCh38: 11:46857321-46857321
25 LRP4 NM_002334.4(LRP4):c.1435C>T (p.Arg479Cys) SNV Uncertain significance 304888 rs143207358 GRCh37: 11:46916245-46916245
GRCh38: 11:46894694-46894694
26 LRP4 NM_002334.4(LRP4):c.3919C>T (p.Pro1307Ser) SNV Uncertain significance 467788 rs771126504 GRCh37: 11:46897013-46897013
GRCh38: 11:46875462-46875462
27 LRP4 NM_002334.4(LRP4):c.3255_3256delinsAC (p.Ile1086Leu) Indel Uncertain significance 467786 rs1555172311 GRCh37: 11:46898771-46898772
GRCh38: 11:46877220-46877221
28 LRP4 NM_002334.4(LRP4):c.299C>T (p.Ser100Leu) SNV Uncertain significance 467785 rs762837686 GRCh37: 11:46921830-46921830
GRCh38: 11:46900279-46900279
29 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
30 LRP4 NM_002334.4(LRP4):c.1126G>A (p.Val376Met) SNV Uncertain significance 467778 rs1243051904 GRCh37: 11:46917492-46917492
GRCh38: 11:46895941-46895941
31 LRP4 NM_002334.4(LRP4):c.1366C>T (p.His456Tyr) SNV Uncertain significance 535795 rs1555174047 GRCh37: 11:46916314-46916314
GRCh38: 11:46894763-46894763
32 LRP4 , LRP4-AS1 NM_002334.4(LRP4):c.4493G>A (p.Arg1498Gln) SNV Uncertain significance 467789 rs764079526 GRCh37: 11:46894741-46894741
GRCh38: 11:46873190-46873190
33 LRP4 , LRP4-AS1 NM_002334.4(LRP4):c.5054G>A (p.Arg1685Gln) SNV Uncertain significance 467792 rs138238230 GRCh37: 11:46889563-46889563
GRCh38: 11:46868012-46868012
34 LRP4 , LRP4-AS1 NM_002334.4(LRP4):c.4516C>T (p.Arg1506Trp) SNV Uncertain significance 567349 rs766025454 GRCh37: 11:46894718-46894718
GRCh38: 11:46873167-46873167
35 LRP4 NM_002334.4(LRP4):c.4102T>C (p.Ser1368Pro) SNV Uncertain significance 567452 rs1565782170 GRCh37: 11:46896478-46896478
GRCh38: 11:46874927-46874927
36 LRP4 NM_002334.4(LRP4):c.2387C>A (p.Thr796Asn) SNV Uncertain significance 567984 rs753109967 GRCh37: 11:46907913-46907913
GRCh38: 11:46886362-46886362
37 LRP4 , LRP4-AS1 NM_002334.4(LRP4):c.4990A>G (p.Met1664Val) SNV Uncertain significance 569474 rs1455143794 GRCh37: 11:46889627-46889627
GRCh38: 11:46868076-46868076
38 LRP4 , LRP4-AS1 NM_002334.4(LRP4):c.5194C>T (p.Leu1732Phe) SNV Uncertain significance 569902 rs1447336134 GRCh37: 11:46886048-46886048
GRCh38: 11:46864497-46864497
39 LRP4 NM_002334.4(LRP4):c.3830G>A (p.Arg1277His) SNV Uncertain significance 189821 rs746136135 GRCh37: 11:46897102-46897102
GRCh38: 11:46875551-46875551
40 LRP4 NM_002334.4(LRP4):c.851G>A (p.Arg284His) SNV Uncertain significance 572607 rs369307795 GRCh37: 11:46918491-46918491
GRCh38: 11:46896940-46896940
41 LRP4 NM_002334.4(LRP4):c.4144C>T (p.Pro1382Ser) SNV Uncertain significance 573237 rs765240067 GRCh37: 11:46896436-46896436
GRCh38: 11:46874885-46874885
42 LRP4 , LRP4-AS1 NM_002334.4(LRP4):c.4699A>T (p.Arg1567Trp) SNV Uncertain significance 573912 rs199747378 GRCh37: 11:46890677-46890677
GRCh38: 11:46869126-46869126
43 LRP4 NM_002334.4(LRP4):c.3331G>A (p.Asp1111Asn) SNV Uncertain significance 574779 rs770071302 GRCh37: 11:46898328-46898328
GRCh38: 11:46876777-46876777
44 LRP4 NM_002334.4(LRP4):c.3581G>A (p.Arg1194Gln) SNV Uncertain significance 575815 rs369916883 GRCh37: 11:46897473-46897473
GRCh38: 11:46875922-46875922
45 LRP4 NM_002334.4(LRP4):c.2119G>A (p.Gly707Arg) SNV Uncertain significance 576132 rs1382055371 GRCh37: 11:46911058-46911058
GRCh38: 11:46889507-46889507
46 LRP4 , LRP4-AS1 NM_002334.4(LRP4):c.5672C>T (p.Thr1891Met) SNV Uncertain significance 304844 rs372637156 GRCh37: 11:46880580-46880580
GRCh38: 11:46859029-46859029
47 LRP4 NM_002334.4(LRP4):c.1769G>A (p.Arg590His) SNV Uncertain significance 304882 rs149435615 GRCh37: 11:46911974-46911974
GRCh38: 11:46890423-46890423
48 LRP4 , LRP4-AS1 NM_002334.4(LRP4):c.5650A>G (p.Arg1884Gly) SNV Uncertain significance 304845 rs377204138 GRCh37: 11:46880602-46880602
GRCh38: 11:46859051-46859051
49 LRP4 NM_002334.4(LRP4):c.505G>A (p.Gly169Ser) SNV Uncertain significance 535797 rs201585639 GRCh37: 11:46920980-46920980
GRCh38: 11:46899429-46899429
50 LRP4 NM_002334.4(LRP4):c.1130A>G (p.Gln377Arg) SNV Uncertain significance 535798 rs139006210 GRCh37: 11:46917488-46917488
GRCh38: 11:46895937-46895937

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

72
# 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:0016020 10.18 WDR81 STIMATE RAPSN NECTIN4 MUSK LRP6
2 plasma membrane GO:0005886 10.06 RAPSN NECTIN4 MUSK LRP6 LRP5 LRP4
3 Golgi apparatus GO:0005794 9.91 WDR81 SOST RAPSN LRP6 ATP8A2 APC
4 synapse GO:0045202 9.8 RAPSN MUSK LRP6 DOK7 AGRN
5 cell junction GO:0030054 9.63 RAPSN NECTIN4 MUSK DOK7 APC AGRN
6 neuromuscular junction GO:0031594 9.43 RAPSN MUSK LRP4
7 Wnt-Frizzled-LRP5/6 complex GO:1990851 8.96 LRP6 LRP5
8 Wnt signalosome GO:1990909 8.8 LRP6 LRP5 APC

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 bone morphogenesis GO:0060349 9.51 LRP6 LRP5
2 receptor clustering GO:0043113 9.49 LRP4 AGRN
3 negative regulation of protein serine/threonine kinase activity GO:0071901 9.48 LRP6 LRP5
4 negative regulation of ossification GO:0030279 9.46 SOST LRP4
5 negative regulation of canonical Wnt signaling pathway GO:0090090 9.46 SOST LRP6 LRP4 APC
6 beta-catenin destruction complex disassembly GO:1904886 9.43 LRP6 APC
7 bone remodeling GO:0046849 9.4 LRP6 LRP5
8 branching involved in mammary gland duct morphogenesis GO:0060444 9.37 LRP6 LRP5
9 skeletal muscle acetylcholine-gated channel clustering GO:0071340 9.32 MUSK LRP4
10 regulation of synaptic growth at neuromuscular junction GO:0008582 9.26 MUSK AGRN
11 neuromuscular junction development GO:0007528 9.13 MUSK DOK7 AGRN
12 Wnt signaling pathway GO:0016055 9.02 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 calcium channel regulator activity GO:0005246 9.4 STIMATE CACNG1
2 Wnt-protein binding GO:0017147 9.37 LRP6 LRP5
3 apolipoprotein binding GO:0034185 9.32 LRP6 LRP4
4 Wnt-activated receptor activity GO:0042813 9.26 LRP6 LRP5
5 toxin transmembrane transporter activity GO:0019534 9.16 LRP6 LRP5
6 coreceptor activity involved in canonical Wnt signaling pathway GO:1904928 8.96 LRP6 LRP5
7 coreceptor activity involved in Wnt signaling pathway GO:0071936 8.62 LRP6 LRP5

Sources for Cenani-Lenz Syndactyly Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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