MCID: CNN011
MIFTS: 48

Cenani-Lenz Syndactyly Syndrome

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

Aliases & Classifications for Cenani-Lenz Syndactyly Syndrome

MalaCards integrated aliases for Cenani-Lenz Syndactyly Syndrome:

Name: Cenani-Lenz Syndactyly Syndrome 57 12 75 37 13 15
Syndactyly Cenani Lenz Type 53 29 6 73
Syndactyly Type 7 12 53 59 75
Cenani-Lenz Syndactyly 57 59 75
Cenani Syndactylism 57 53 75
Cenani-Lenz Syndrome 59 75
Clss 57 75
Syndrome, Cenani-Lenz Syndactyly 40
Cenani-Lenz Type Syndactyly 53
Syndactyly, Type Vii 57
Syndactyly Type Vii 75
Cenani Syndactyly 59

Characteristics:

Orphanet epidemiological data:

59
cenani-lenz syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
cenani-lenz syndactyly syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cenani-Lenz Syndactyly Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3258Disease definitionCenani-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.EpidemiologyFewer than 30 cases have been described and the exact incidence has not been evaluated. The majority of cases occurred in related families.Clinical descriptionClassical 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.EtiologyThe disease is transmitted as an autosomal recessivetrait. Homozygous or compound heterozygousmutations 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 methodsDiagnosis is essentially clinical.Differential diagnosisCLS can be distinguished clinically from other limb malformations.Antenatal diagnosisDiagnosis can be suspected antenatally by ultrasonography. As an autosomal recessive syndrome, recurrence risk for CLS is 25% for a subsequent pregnancy.Management and treatmentSurgical treatment with reconstruction of an individualized finger is recommended but the functional results of syndactyly release may be unsatisfactory.PrognosisFunctional prognosis depends on the specific limb anomalies of the patient.Visit the Orphanet disease page for more resources.

MalaCards based summary : Cenani-Lenz Syndactyly Syndrome, also known as syndactyly cenani lenz type, is related to congenital myasthenic syndrome associated with acetylcholine receptor deficiency and neonatal myasthenia gravis. An important gene associated with Cenani-Lenz Syndactyly Syndrome is LRP4 (LDL Receptor Related Protein 4), and among its related pathways/superpathways are Degradation of the extracellular matrix and Wnt Signaling Pathway and Pluripotency. Affiliated tissues include bone, and related phenotypes are malar flattening and hypertelorism

UniProtKB/Swiss-Prot : 75 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.

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.

Description 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 all 27)
# Related Disease Score Top Affiliating Genes
1 congenital myasthenic syndrome associated with acetylcholine receptor deficiency 10.6 DOK7 MUSK
2 neonatal myasthenia gravis 10.5 DPAGT1 MUSK
3 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency 10.4 DOK7 MUSK
4 kabuki syndrome 1 10.3
5 renal hypoplasia 10.3
6 hypothyroidism 10.3
7 fetal akinesia deformation sequence 10.2 DOK7 MUSK RAPSN
8 peripheral nervous system disease 10.2 DPAGT1 MUSK RAPSN
9 ptosis 10.2 DOK7 MUSK RAPSN
10 muscular dystrophy-dystroglycanopathy , type b, 6 10.1 AGRN HSPG2
11 mass syndrome 9.9 LRP5 SOST
12 presynaptic congenital myasthenic syndromes 9.9 AGRN CHAT
13 myasthenic syndrome, congenital, 5 9.8 ACHE DPAGT1
14 myasthenic syndrome, congenital, 6, presynaptic 9.8 CHAT DPAGT1
15 hyperostosis 9.7 LRP4 LRP5 SOST
16 colonic pseudo-obstruction 9.7 ACHE HSPG2
17 myasthenia gravis 9.6 ACHE AGRN MUSK RAPSN
18 wernicke-korsakoff syndrome 9.6 ACHE CHAT
19 craniodiaphyseal dysplasia 9.6 LRP5 LRP6 SOST
20 tendinosis 9.4 ACHE CHAT
21 van buchem disease 9.3 LRP4 LRP5 LRP6 SOST
22 sclerosteosis 9.3 LRP4 LRP5 LRP6 SOST
23 postsynaptic congenital myasthenic syndromes 9.2 AGRN DOK7 LRP4 MUSK RAPSN SCN4A
24 amnestic disorder 9.0 ACHE CHAT
25 neuromuscular junction disease 8.7 ACHE AGRN DOK7 DPAGT1 LRP4 MUSK
26 sclerosteosis 2 7.5 AGRN DOK7 DPAGT1 LRP4 LRP5 LRP6
27 congenital myasthenic syndrome 7.2 ACHE AGRN CHAT DOK7 DPAGT1 LRP4

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Cenani-Lenz Syndactyly Syndrome:

59 32 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 occasional (7.5%) Occasional (29-5%) HP:0000272
2 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
3 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
4 finger syndactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0006101
5 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
6 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
7 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
8 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
9 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
10 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
11 short nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0003196
12 laryngomalacia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001601
13 micromelia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002983
14 abnormal form of the vertebral bodies 59 32 occasional (7.5%) Occasional (29-5%) HP:0003312
15 high, narrow palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0002705
16 abnormal dermatoglyphics 59 32 occasional (7.5%) Occasional (29-5%) HP:0007477
17 renal hypoplasia/aplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008678
18 protruding ear 59 32 occasional (7.5%) Occasional (29-5%) HP:0000411
19 hip dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002827
20 short philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000322
21 abnormality of the metacarpal bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0001163
22 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
23 elbow dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0003042
24 abnormality of dental enamel 59 32 occasional (7.5%) Occasional (29-5%) HP:0000682
25 abnormality of the ribs 59 32 occasional (7.5%) Occasional (29-5%) HP:0000772
26 hypodontia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000668
27 radioulnar synostosis 59 32 frequent (33%) Frequent (79-30%) HP:0002974
28 convex nasal ridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000444
29 proptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000520
30 synostosis of carpal bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0005048
31 toe syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001770
32 hypoplasia of the ulna 59 32 frequent (33%) Frequent (79-30%) HP:0003022
33 ectropion 59 32 occasional (7.5%) Occasional (29-5%) HP:0000656
34 hypoplasia of the radius 59 32 frequent (33%) Frequent (79-30%) HP:0002984
35 short thumb 59 32 frequent (33%) Frequent (79-30%) HP:0009778
36 absent toenail 59 32 frequent (33%) Frequent (79-30%) HP:0001802
37 foot oligodactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001849
38 absent fingernail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001817
39 crossed fused renal ectopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0004736
40 synostosis of joints 59 Very frequent (99-80%)
41 prominent forehead 32 HP:0011220
42 micrognathia 32 HP:0000347
43 renal hypoplasia 32 HP:0000089
44 oligodactyly 59 Very frequent (99-80%)
45 renal agenesis 32 HP:0000104
46 syndactyly 32 HP:0001159

MGI Mouse Phenotypes related to Cenani-Lenz Syndactyly Syndrome:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.27 CHAT DOK7 HSPG2 LRP4 LRP5 LRP6
2 behavior/neurological MP:0005386 10.26 ACHE AGRN APC CHAT DOK7 HSPG2
3 homeostasis/metabolism MP:0005376 10.23 ACHE AGRN APC CHAT HSPG2 LRP4
4 mortality/aging MP:0010768 10.22 DPAGT1 HSPG2 LRP4 LRP5 LRP6 MUSK
5 nervous system MP:0003631 10.06 LRP6 MUSK RAPSN ACHE AGRN APC
6 limbs/digits/tail MP:0005371 10.03 AGRN APC CHAT HSPG2 LRP4 LRP5
7 muscle MP:0005369 10.02 ACHE AGRN APC CHAT DOK7 HSPG2
8 craniofacial MP:0005382 9.99 ACHE APC HSPG2 LRP4 LRP5 LRP6
9 hearing/vestibular/ear MP:0005377 9.95 ACHE APC DOK7 HSPG2 LRP6 SCN4A
10 respiratory system MP:0005388 9.85 ACHE AGRN CHAT DOK7 HSPG2 LRP4
11 normal MP:0002873 9.8 AGRN APC CHAT DPAGT1 LRP5 LRP6
12 skeleton MP:0005390 9.56 SOST APC CHAT HSPG2 LRP4 LRP5
13 vision/eye MP:0005391 9.1 ACHE APC CHAT HSPG2 LRP5 LRP6

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 Syndactyly Cenani Lenz Type 29 LRP4

Anatomical Context for Cenani-Lenz Syndactyly Syndrome

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

41
Bone

Publications for Cenani-Lenz Syndactyly Syndrome

Articles related to Cenani-Lenz Syndactyly Syndrome:

# Title Authors Year
1
Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms. ( 28559208 )
2017

Variations for Cenani-Lenz Syndactyly Syndrome

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

75
# 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

ClinVar genetic disease variations for Cenani-Lenz Syndactyly Syndrome:

6
(show top 50) (show all 275)
# Gene Variation Type Significance SNP ID Assembly Location
1 LRP4 NM_002334.3(LRP4): c.1585G> A (p.Asp529Asn) single nucleotide variant Pathogenic rs267607220 GRCh37 Chromosome 11, 46914636: 46914636
2 LRP4 NM_002334.3(LRP4): c.1585G> A (p.Asp529Asn) single nucleotide variant Pathogenic rs267607220 GRCh38 Chromosome 11, 46893085: 46893085
3 LRP4 NM_002334.3(LRP4): c.409G> A (p.Asp137Asn) single nucleotide variant Pathogenic rs267607222 GRCh37 Chromosome 11, 46921435: 46921435
4 LRP4 NM_002334.3(LRP4): c.409G> A (p.Asp137Asn) single nucleotide variant Pathogenic rs267607222 GRCh38 Chromosome 11, 46899884: 46899884
5 LRP4 LRP4, 4959G-C single nucleotide variant Pathogenic
6 LRP4 LRP4, IVS6DS, G-A, +1 single nucleotide variant Pathogenic
7 LRP4 NM_002334.3(LRP4): c.479G> A (p.Cys160Tyr) single nucleotide variant Pathogenic rs267607221 GRCh37 Chromosome 11, 46921006: 46921006
8 LRP4 NM_002334.3(LRP4): c.479G> A (p.Cys160Tyr) single nucleotide variant Pathogenic rs267607221 GRCh38 Chromosome 11, 46899455: 46899455
9 LRP4 NM_002334.3(LRP4): c.1345G> A (p.Asp449Asn) single nucleotide variant Pathogenic rs267607224 GRCh37 Chromosome 11, 46916335: 46916335
10 LRP4 NM_002334.3(LRP4): c.1345G> A (p.Asp449Asn) single nucleotide variant Pathogenic rs267607224 GRCh38 Chromosome 11, 46894784: 46894784
11 LRP4 NM_002334.3(LRP4): c.1381A> C (p.Thr461Pro) single nucleotide variant Pathogenic rs267607223 GRCh37 Chromosome 11, 46916299: 46916299
12 LRP4 NM_002334.3(LRP4): c.1381A> C (p.Thr461Pro) single nucleotide variant Pathogenic rs267607223 GRCh38 Chromosome 11, 46894748: 46894748
13 LRP4 LRP4, IVS2AS, G-A, -9 single nucleotide variant Pathogenic
14 LRP4 NM_002334.3(LRP4): c.1551T> C (p.Ala517=) single nucleotide variant Benign rs150777198 GRCh37 Chromosome 11, 46914670: 46914670
15 LRP4 NM_002334.3(LRP4): c.1551T> C (p.Ala517=) single nucleotide variant Benign rs150777198 GRCh38 Chromosome 11, 46893119: 46893119
16 LRP4 NM_002334.3(LRP4): c.1915+6C> T single nucleotide variant Likely benign rs184555624 GRCh37 Chromosome 11, 46911822: 46911822
17 LRP4 NM_002334.3(LRP4): c.1915+6C> T single nucleotide variant Likely benign rs184555624 GRCh38 Chromosome 11, 46890271: 46890271
18 LRP4 NM_002334.3(LRP4): c.5357T> A (p.Met1786Lys) single nucleotide variant Likely benign rs61748876 GRCh37 Chromosome 11, 46884185: 46884185
19 LRP4 NM_002334.3(LRP4): c.5357T> A (p.Met1786Lys) single nucleotide variant Likely benign rs61748876 GRCh38 Chromosome 11, 46862634: 46862634
20 LRP4 NM_002334.3(LRP4): c.997G> A (p.Gly333Arg) single nucleotide variant Benign/Likely benign rs61744209 GRCh37 Chromosome 11, 46917812: 46917812
21 LRP4 NM_002334.3(LRP4): c.997G> A (p.Gly333Arg) single nucleotide variant Benign/Likely benign rs61744209 GRCh38 Chromosome 11, 46896261: 46896261
22 LRP4 NM_002334.3(LRP4): c.3817C> A (p.Arg1273=) single nucleotide variant Benign rs61746928 GRCh38 Chromosome 11, 46875564: 46875564
23 LRP4 NM_002334.3(LRP4): c.3817C> A (p.Arg1273=) single nucleotide variant Benign rs61746928 GRCh37 Chromosome 11, 46897115: 46897115
24 LRP4 NM_002334.3(LRP4): c.3407G> A (p.Arg1136Gln) single nucleotide variant Uncertain significance rs61736853 GRCh37 Chromosome 11, 46898146: 46898146
25 LRP4 NM_002334.3(LRP4): c.3407G> A (p.Arg1136Gln) single nucleotide variant Uncertain significance rs61736853 GRCh38 Chromosome 11, 46876595: 46876595
26 LRP4 NM_002334.3(LRP4): c.639C> T (p.Asp213=) single nucleotide variant Conflicting interpretations of pathogenicity rs144974139 GRCh37 Chromosome 11, 46920492: 46920492
27 LRP4 NM_002334.3(LRP4): c.639C> T (p.Asp213=) single nucleotide variant Conflicting interpretations of pathogenicity rs144974139 GRCh38 Chromosome 11, 46898941: 46898941
28 LRP4 NM_002334.3(LRP4): c.5660C> G (p.Ser1887Cys) single nucleotide variant Uncertain significance rs149082597 GRCh37 Chromosome 11, 46880592: 46880592
29 LRP4 NM_002334.3(LRP4): c.5660C> G (p.Ser1887Cys) single nucleotide variant Uncertain significance rs149082597 GRCh38 Chromosome 11, 46859041: 46859041
30 LRP4 NM_002334.3(LRP4): c.1494C> T (p.Asn498=) single nucleotide variant Benign rs61749083 GRCh37 Chromosome 11, 46916186: 46916186
31 LRP4 NM_002334.3(LRP4): c.1494C> T (p.Asn498=) single nucleotide variant Benign rs61749083 GRCh38 Chromosome 11, 46894635: 46894635
32 LRP4 NM_002334.3(LRP4): c.3620A> G (p.Asn1207Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs151234321 GRCh37 Chromosome 11, 46897434: 46897434
33 LRP4 NM_002334.3(LRP4): c.3620A> G (p.Asn1207Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs151234321 GRCh38 Chromosome 11, 46875883: 46875883
34 LRP4 NM_002334.3(LRP4): c.1048+7G> T single nucleotide variant Conflicting interpretations of pathogenicity rs148557097 GRCh37 Chromosome 11, 46917754: 46917754
35 LRP4 NM_002334.3(LRP4): c.1048+7G> T single nucleotide variant Conflicting interpretations of pathogenicity rs148557097 GRCh38 Chromosome 11, 46896203: 46896203
36 LRP4 NM_002334.3(LRP4): c.5182A> G (p.Ile1728Val) single nucleotide variant Uncertain significance rs148865136 GRCh37 Chromosome 11, 46886060: 46886060
37 LRP4 NM_002334.3(LRP4): c.5182A> G (p.Ile1728Val) single nucleotide variant Uncertain significance rs148865136 GRCh38 Chromosome 11, 46864509: 46864509
38 LRP4 NM_002334.3(LRP4): c.1787A> G (p.His596Arg) single nucleotide variant Likely benign rs138878258 GRCh37 Chromosome 11, 46911956: 46911956
39 LRP4 NM_002334.3(LRP4): c.1787A> G (p.His596Arg) single nucleotide variant Likely benign rs138878258 GRCh38 Chromosome 11, 46890405: 46890405
40 LRP4 NM_002334.3(LRP4): c.*1727G> A single nucleotide variant Uncertain significance rs558730059 GRCh38 Chromosome 11, 46857256: 46857256
41 LRP4 NM_002334.3(LRP4): c.*1727G> A single nucleotide variant Uncertain significance rs558730059 GRCh37 Chromosome 11, 46878807: 46878807
42 LRP4 NM_002334.3(LRP4): c.*1064C> G single nucleotide variant Uncertain significance rs886048343 GRCh37 Chromosome 11, 46879470: 46879470
43 LRP4 NM_002334.3(LRP4): c.*1064C> G single nucleotide variant Uncertain significance rs886048343 GRCh38 Chromosome 11, 46857919: 46857919
44 LRP4 NM_002334.3(LRP4): c.*261C> A single nucleotide variant Likely benign rs77376145 GRCh37 Chromosome 11, 46880273: 46880273
45 LRP4 NM_002334.3(LRP4): c.*261C> A single nucleotide variant Likely benign rs77376145 GRCh38 Chromosome 11, 46858722: 46858722
46 LRP4 NM_002334.3(LRP4): c.5330A> C (p.Lys1777Thr) single nucleotide variant Uncertain significance rs541585714 GRCh37 Chromosome 11, 46884212: 46884212
47 LRP4 NM_002334.3(LRP4): c.5330A> C (p.Lys1777Thr) single nucleotide variant Uncertain significance rs541585714 GRCh38 Chromosome 11, 46862661: 46862661
48 LRP4 NM_002334.3(LRP4): c.4928C> T (p.Pro1643Leu) single nucleotide variant Uncertain significance rs767372563 GRCh37 Chromosome 11, 46890174: 46890174
49 LRP4 NM_002334.3(LRP4): c.4928C> T (p.Pro1643Leu) single nucleotide variant Uncertain significance rs767372563 GRCh38 Chromosome 11, 46868623: 46868623
50 LRP4 NM_002334.3(LRP4): c.4905C> T (p.Phe1635=) single nucleotide variant Benign rs2290883 GRCh37 Chromosome 11, 46890197: 46890197

Expression for Cenani-Lenz Syndactyly Syndrome

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

Pathways for Cenani-Lenz Syndactyly Syndrome

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

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.5 AGRN HSPG2 LRP4 MUSK
2
Show member pathways
12.29 APC LRP5 LRP6 SOST
3 12.02 APC LRP5 LRP6
4 11.95 APC LRP5 LRP6
5 11.7 LRP5 LRP6 SOST
6
Show member pathways
11.64 APC LRP5 LRP6 SOST
7 11.48 AGRN LRP5 LRP6
8 11.39 APC LRP5 LRP6
9 11.3 AGRN LRP4 MUSK
10 11.25 AGRN MUSK RAPSN
11 11.16 APC LRP5 LRP6
12
Show member pathways
11.08 LRP5 LRP6
13 11.02 ACHE CHAT
14 11.01 LRP5 LRP6
15
Show member pathways
10.87 ACHE CHAT
16 10.79 AGRN HSPG2
17 10.54 ACHE CHAT
18 10.51 APC LRP5 LRP6
19 10.25 ACHE CHAT
20
Show member pathways
10.12 LRP5 LRP6 SOST

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 cell junction GO:0030054 9.85 ACHE AGRN APC DOK7 MUSK RAPSN
2 receptor complex GO:0043235 9.62 LRP4 LRP5 LRP6 MUSK
3 neuromuscular junction GO:0031594 9.46 ACHE LRP4 MUSK RAPSN
4 basal lamina GO:0005605 9.43 ACHE AGRN
5 Wnt-Frizzled-LRP5/6 complex GO:1990851 9.26 LRP5 LRP6
6 synapse GO:0045202 9.17 ACHE AGRN CHAT DOK7 LRP6 MUSK
7 Wnt signalosome GO:1990909 9.13 APC LRP5 LRP6
8 plasma membrane GO:0005886 10.14 ACHE AGRN APC DOK7 HSPG2 LRP4

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 endocytosis GO:0006897 9.77 LRP4 LRP5 LRP6
2 negative regulation of canonical Wnt signaling pathway GO:0090090 9.67 APC LRP4 LRP6 SOST
3 glycosaminoglycan biosynthetic process GO:0006024 9.6 AGRN HSPG2
4 phosphatidylcholine biosynthetic process GO:0006656 9.58 ACHE CHAT
5 glycosaminoglycan metabolic process GO:0030203 9.58 AGRN HSPG2
6 canonical Wnt signaling pathway GO:0060070 9.58 APC LRP5 LRP6
7 negative regulation of protein serine/threonine kinase activity GO:0071901 9.57 LRP5 LRP6
8 glycosaminoglycan catabolic process GO:0006027 9.56 AGRN HSPG2
9 receptor clustering GO:0043113 9.55 AGRN LRP4
10 Wnt signaling pathway GO:0016055 9.55 APC LRP4 LRP5 LRP6 SOST
11 negative regulation of ossification GO:0030279 9.54 LRP4 SOST
12 osteoblast development GO:0002076 9.52 ACHE LRP5
13 gastrulation with mouth forming second GO:0001702 9.51 LRP5 LRP6
14 regulation of canonical Wnt signaling pathway GO:0060828 9.5 LRP4 LRP5 LRP6
15 bone remodeling GO:0046849 9.49 LRP5 LRP6
16 regulation of ossification GO:0030278 9.48 LRP5 LRP6
17 neurotransmitter biosynthetic process GO:0042136 9.46 ACHE CHAT
18 branching involved in mammary gland duct morphogenesis GO:0060444 9.43 LRP5 LRP6
19 beta-catenin destruction complex disassembly GO:1904886 9.43 APC LRP5 LRP6
20 skeletal muscle acetylcholine-gated channel clustering GO:0071340 9.13 LRP4 MUSK RAPSN
21 Wnt signaling pathway involved in dorsal/ventral axis specification GO:0044332 8.8 LRP4 LRP5 LRP6

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

# Name GO ID Score Top Affiliating Genes
1 coreceptor activity GO:0015026 9.43 LRP5 LRP6
2 Wnt-protein binding GO:0017147 9.43 LRP4 LRP5 LRP6
3 laminin binding GO:0043236 9.4 ACHE AGRN
4 apolipoprotein binding GO:0034185 9.37 LRP4 LRP6
5 toxin transmembrane transporter activity GO:0019534 9.32 LRP5 LRP6
6 coreceptor activity involved in canonical Wnt signaling pathway GO:1904928 9.16 LRP5 LRP6
7 coreceptor activity involved in Wnt signaling pathway GO:0071936 8.96 LRP5 LRP6
8 Wnt-activated receptor activity GO:0042813 8.8 LRP4 LRP5 LRP6

Sources for Cenani-Lenz Syndactyly Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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