CLSS
MCID: CNN011
MIFTS: 49

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 58 12 76 38 13 15
Syndactyly Cenani Lenz Type 54 30 6 74
Syndactyly Type 7 12 54 60 76
Cenani-Lenz Syndactyly 58 60 76
Cenani Syndactylism 58 54 76
Cenani-Lenz Syndrome 60 76
Clss 58 76
Syndrome, Cenani-Lenz Syndactyly 41
Cenani-Lenz Type Syndactyly 54
Syndactyly, Type Vii 58
Syndactyly Type Vii 76
Cenani Syndactyly 60

Characteristics:

Orphanet epidemiological data:

60
cenani-lenz syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
cenani-lenz syndactyly syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cenani-Lenz Syndactyly Syndrome

NIH Rare Diseases : 54 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 kabuki syndrome 1 and renal hypoplasia. An important gene associated with Cenani-Lenz Syndactyly Syndrome is LRP4 (LDL Receptor Related Protein 4), and among its related pathways/superpathways are Signaling by Wnt and Degradation of the extracellular matrix. Affiliated tissues include bone, 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.

UniProtKB/Swiss-Prot : 76 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.

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 30)
# Related Disease Score Top Affiliating Genes
1 kabuki syndrome 1 10.5
2 renal hypoplasia 10.5
3 hypothyroidism 10.5
4 chromosome 2q35 duplication syndrome 10.5
5 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency 10.2 DOK7 MUSK
6 thymus gland disease 10.1 LRP4 MUSK
7 myotonia 10.1 HSPG2 SCN4A
8 fetal akinesia deformation sequence 10.1 DOK7 MUSK RAPSN
9 presynaptic congenital myasthenic syndromes 10.1 AGRN CHAT
10 muscular dystrophy-dystroglycanopathy , type b, 6 10.1 AGRN HSPG2
11 sclerosteosis 1 10.0 LRP4 SOST
12 colonic pseudo-obstruction 10.0 ACHE HSPG2
13 wernicke-korsakoff syndrome 9.9 ACHE CHAT
14 tendinosis 9.8 ACHE CHAT
15 mass syndrome 9.8 LRP5 SOST
16 muscular disease 9.8 AGRN DOK7 HSPG2 SCN4A
17 myasthenia gravis 9.8 ACHE AGRN MUSK RAPSN
18 osteoporosis, juvenile 9.8 LRP5 SOST
19 ptosis 9.7 CHAT DOK7 MUSK RAPSN
20 amnestic disorder 9.7 ACHE CHAT
21 hyperostosis 9.7 LRP4 LRP5 SOST
22 peripheral nervous system disease 9.6 ACHE AGRN DOK7 MUSK RAPSN
23 craniodiaphyseal dysplasia 9.6 LRP5 LRP6 SOST
24 postsynaptic congenital myasthenic syndromes 9.6 AGRN DOK7 LRP4 MUSK RAPSN SCN4A
25 sclerosteosis 9.5 LRP4 LRP5 LRP6 SOST
26 osteopetrosis, autosomal dominant 2 9.5 LRP5 SOST
27 van buchem disease 9.5 LRP4 LRP5 LRP6 SOST
28 neuromuscular junction disease 9.5 ACHE AGRN DOK7 LRP4 MUSK RAPSN
29 congenital myasthenic syndrome 8.9 ACHE AGRN CHAT DOK7 LRP4 MUSK
30 sclerosteosis 2 8.8 AGRN DOK7 LRP4 LRP5 LRP6 MUSK

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:

60 33 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 60 33 hallmark (90%) Very frequent (99-80%) HP:0002007
2 finger syndactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0006101
3 abnormality of the metacarpal bones 60 33 hallmark (90%) Very frequent (99-80%) HP:0001163
4 synostosis of carpal bones 60 33 hallmark (90%) Very frequent (99-80%) HP:0005048
5 absent fingernail 60 33 hallmark (90%) Very frequent (99-80%) HP:0001817
6 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
7 downslanted palpebral fissures 60 33 frequent (33%) Frequent (79-30%) HP:0000494
8 radioulnar synostosis 60 33 frequent (33%) Frequent (79-30%) HP:0002974
9 toe syndactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001770
10 hypoplasia of the ulna 60 33 frequent (33%) Frequent (79-30%) HP:0003022
11 hypoplasia of the radius 60 33 frequent (33%) Frequent (79-30%) HP:0002984
12 short thumb 60 33 frequent (33%) Frequent (79-30%) HP:0009778
13 absent toenail 60 33 frequent (33%) Frequent (79-30%) HP:0001802
14 malar flattening 60 33 occasional (7.5%) Occasional (29-5%) HP:0000272
15 ptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000508
16 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
17 hypothyroidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000821
18 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
19 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
20 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
21 short nose 60 33 occasional (7.5%) Occasional (29-5%) HP:0003196
22 laryngomalacia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001601
23 micromelia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002983
24 abnormal form of the vertebral bodies 60 33 occasional (7.5%) Occasional (29-5%) HP:0003312
25 high, narrow palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0002705
26 abnormal dermatoglyphics 60 33 occasional (7.5%) Occasional (29-5%) HP:0007477
27 renal hypoplasia/aplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0008678
28 protruding ear 60 33 occasional (7.5%) Occasional (29-5%) HP:0000411
29 hip dislocation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002827
30 short philtrum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000322
31 elbow dislocation 60 33 occasional (7.5%) Occasional (29-5%) HP:0003042
32 abnormality of dental enamel 60 33 occasional (7.5%) Occasional (29-5%) HP:0000682
33 abnormality of the ribs 60 33 occasional (7.5%) Occasional (29-5%) HP:0000772
34 hypodontia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000668
35 convex nasal ridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0000444
36 proptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000520
37 ectropion 60 33 occasional (7.5%) Occasional (29-5%) HP:0000656
38 foot oligodactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001849
39 crossed fused renal ectopia 60 33 occasional (7.5%) Occasional (29-5%) HP:0004736
40 synostosis of joints 60 Very frequent (99-80%)
41 prominent forehead 33 HP:0011220
42 micrognathia 33 HP:0000347
43 renal hypoplasia 33 HP:0000089
44 oligodactyly 60 Very frequent (99-80%)
45 renal agenesis 33 HP:0000104
46 syndactyly 33 HP:0001159

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Cenani-Lenz Syndactyly Syndrome:

47 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.26 ACHE AGRN APC CHAT DOK7 HSPG2
2 behavior/neurological MP:0005386 10.25 ACHE AGRN APC CHAT DOK7 HSPG2
3 homeostasis/metabolism MP:0005376 10.21 ACHE AGRN APC CHAT HSPG2 LRP4
4 mortality/aging MP:0010768 10.15 ACHE AGRN APC CHAT DOK7 HSPG2
5 limbs/digits/tail MP:0005371 10.01 AGRN APC CHAT HSPG2 LRP4 LRP5
6 nervous system MP:0003631 10 ACHE AGRN APC CHAT DOK7 HSPG2
7 craniofacial MP:0005382 9.97 ACHE APC HSPG2 LRP4 LRP5 LRP6
8 muscle MP:0005369 9.97 ACHE AGRN APC CHAT DOK7 HSPG2
9 hearing/vestibular/ear MP:0005377 9.85 ACHE APC DOK7 HSPG2 LRP6
10 respiratory system MP:0005388 9.85 ACHE AGRN CHAT DOK7 HSPG2 LRP4
11 skeleton MP:0005390 9.56 APC CHAT HSPG2 LRP4 LRP5 LRP6
12 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 30 LRP4

Anatomical Context for Cenani-Lenz Syndactyly Syndrome

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

42
Bone

Publications for Cenani-Lenz Syndactyly Syndrome

Articles related to Cenani-Lenz Syndactyly Syndrome:

# Title Authors Year
1
Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly. ( 30041615 )
2018
2
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:

76
# 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 315)
# Gene Variation Type Significance SNP ID Assembly Location
1 LRP4 NM_002334.3(LRP4): c.3830G> A (p.Arg1277His) single nucleotide variant Uncertain significance rs746136135 GRCh38 Chromosome 11, 46875551: 46875551
2 LRP4 NM_002334.3(LRP4): c.3830G> A (p.Arg1277His) single nucleotide variant Uncertain significance rs746136135 GRCh37 Chromosome 11, 46897102: 46897102
3 LRP4 NM_002334.3(LRP4): c.1551T> C (p.Ala517=) single nucleotide variant Benign rs150777198 GRCh37 Chromosome 11, 46914670: 46914670
4 LRP4 NM_002334.3(LRP4): c.1551T> C (p.Ala517=) single nucleotide variant Benign rs150777198 GRCh38 Chromosome 11, 46893119: 46893119
5 LRP4 NM_002334.3(LRP4): c.1915+6C> T single nucleotide variant Likely benign rs184555624 GRCh37 Chromosome 11, 46911822: 46911822
6 LRP4 NM_002334.3(LRP4): c.1915+6C> T single nucleotide variant Likely benign rs184555624 GRCh38 Chromosome 11, 46890271: 46890271
7 LRP4 NM_002334.3(LRP4): c.5357T> A (p.Met1786Lys) single nucleotide variant Likely benign rs61748876 GRCh37 Chromosome 11, 46884185: 46884185
8 LRP4 NM_002334.3(LRP4): c.5357T> A (p.Met1786Lys) single nucleotide variant Likely benign rs61748876 GRCh38 Chromosome 11, 46862634: 46862634
9 LRP4 NM_002334.3(LRP4): c.997G> A (p.Gly333Arg) single nucleotide variant Benign/Likely benign rs61744209 GRCh37 Chromosome 11, 46917812: 46917812
10 LRP4 NM_002334.3(LRP4): c.997G> A (p.Gly333Arg) single nucleotide variant Benign/Likely benign rs61744209 GRCh38 Chromosome 11, 46896261: 46896261
11 LRP4 NM_002334.3(LRP4): c.3817C> A (p.Arg1273=) single nucleotide variant Benign rs61746928 GRCh38 Chromosome 11, 46875564: 46875564
12 LRP4 NM_002334.3(LRP4): c.3817C> A (p.Arg1273=) single nucleotide variant Benign rs61746928 GRCh37 Chromosome 11, 46897115: 46897115
13 LRP4 NM_002334.3(LRP4): c.1585G> A (p.Asp529Asn) single nucleotide variant Pathogenic rs267607220 GRCh37 Chromosome 11, 46914636: 46914636
14 LRP4 NM_002334.3(LRP4): c.1585G> A (p.Asp529Asn) single nucleotide variant Pathogenic rs267607220 GRCh38 Chromosome 11, 46893085: 46893085
15 LRP4 NM_002334.3(LRP4): c.409G> A (p.Asp137Asn) single nucleotide variant Pathogenic rs267607222 GRCh37 Chromosome 11, 46921435: 46921435
16 LRP4 NM_002334.3(LRP4): c.409G> A (p.Asp137Asn) single nucleotide variant Pathogenic rs267607222 GRCh38 Chromosome 11, 46899884: 46899884
17 LRP4 LRP4, 4959G-C single nucleotide variant Pathogenic
18 LRP4 NM_002334.4(LRP4): c.547+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 11, 46920937: 46920937
19 LRP4 NM_002334.4(LRP4): c.547+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 11, 46899386: 46899386
20 LRP4 NM_002334.3(LRP4): c.479G> A (p.Cys160Tyr) single nucleotide variant Pathogenic rs267607221 GRCh37 Chromosome 11, 46921006: 46921006
21 LRP4 NM_002334.3(LRP4): c.479G> A (p.Cys160Tyr) single nucleotide variant Pathogenic rs267607221 GRCh38 Chromosome 11, 46899455: 46899455
22 LRP4 NM_002334.3(LRP4): c.1345G> A (p.Asp449Asn) single nucleotide variant Pathogenic rs267607224 GRCh37 Chromosome 11, 46916335: 46916335
23 LRP4 NM_002334.3(LRP4): c.1345G> A (p.Asp449Asn) single nucleotide variant Pathogenic rs267607224 GRCh38 Chromosome 11, 46894784: 46894784
24 LRP4 NM_002334.3(LRP4): c.1381A> C (p.Thr461Pro) single nucleotide variant Pathogenic rs267607223 GRCh37 Chromosome 11, 46916299: 46916299
25 LRP4 NM_002334.3(LRP4): c.1381A> C (p.Thr461Pro) single nucleotide variant Pathogenic rs267607223 GRCh38 Chromosome 11, 46894748: 46894748
26 LRP4 NM_002334.4(LRP4): c.200-9G> A single nucleotide variant Pathogenic GRCh38 Chromosome 11, 46900387: 46900387
27 LRP4 NM_002334.4(LRP4): c.200-9G> A single nucleotide variant Pathogenic GRCh37 Chromosome 11, 46921938: 46921938
28 LRP4 NM_002334.3(LRP4): c.3407G> A (p.Arg1136Gln) single nucleotide variant Uncertain significance rs61736853 GRCh37 Chromosome 11, 46898146: 46898146
29 LRP4 NM_002334.3(LRP4): c.3407G> A (p.Arg1136Gln) single nucleotide variant Uncertain significance rs61736853 GRCh38 Chromosome 11, 46876595: 46876595
30 LRP4 NM_002334.3(LRP4): c.639C> T (p.Asp213=) single nucleotide variant Conflicting interpretations of pathogenicity rs144974139 GRCh37 Chromosome 11, 46920492: 46920492
31 LRP4 NM_002334.3(LRP4): c.639C> T (p.Asp213=) single nucleotide variant Conflicting interpretations of pathogenicity rs144974139 GRCh38 Chromosome 11, 46898941: 46898941
32 LRP4 NM_002334.3(LRP4): c.5660C> G (p.Ser1887Cys) single nucleotide variant Uncertain significance rs149082597 GRCh37 Chromosome 11, 46880592: 46880592
33 LRP4 NM_002334.3(LRP4): c.5660C> G (p.Ser1887Cys) single nucleotide variant Uncertain significance rs149082597 GRCh38 Chromosome 11, 46859041: 46859041
34 LRP4 NM_002334.3(LRP4): c.1494C> T (p.Asn498=) single nucleotide variant Benign rs61749083 GRCh37 Chromosome 11, 46916186: 46916186
35 LRP4 NM_002334.3(LRP4): c.1494C> T (p.Asn498=) single nucleotide variant Benign rs61749083 GRCh38 Chromosome 11, 46894635: 46894635
36 LRP4 NM_002334.3(LRP4): c.3620A> G (p.Asn1207Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs151234321 GRCh37 Chromosome 11, 46897434: 46897434
37 LRP4 NM_002334.3(LRP4): c.3620A> G (p.Asn1207Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs151234321 GRCh38 Chromosome 11, 46875883: 46875883
38 LRP4 NM_002334.3(LRP4): c.1048+7G> T single nucleotide variant Conflicting interpretations of pathogenicity rs148557097 GRCh37 Chromosome 11, 46917754: 46917754
39 LRP4 NM_002334.3(LRP4): c.1048+7G> T single nucleotide variant Conflicting interpretations of pathogenicity rs148557097 GRCh38 Chromosome 11, 46896203: 46896203
40 LRP4 NM_002334.3(LRP4): c.5182A> G (p.Ile1728Val) single nucleotide variant Uncertain significance rs148865136 GRCh37 Chromosome 11, 46886060: 46886060
41 LRP4 NM_002334.3(LRP4): c.5182A> G (p.Ile1728Val) single nucleotide variant Uncertain significance rs148865136 GRCh38 Chromosome 11, 46864509: 46864509
42 LRP4 NM_002334.3(LRP4): c.1787A> G (p.His596Arg) single nucleotide variant Likely benign rs138878258 GRCh37 Chromosome 11, 46911956: 46911956
43 LRP4 NM_002334.3(LRP4): c.1787A> G (p.His596Arg) single nucleotide variant Likely benign rs138878258 GRCh38 Chromosome 11, 46890405: 46890405
44 LRP4 NM_002334.3(LRP4): c.5330A> C (p.Lys1777Thr) single nucleotide variant Uncertain significance rs541585714 GRCh37 Chromosome 11, 46884212: 46884212
45 LRP4 NM_002334.3(LRP4): c.5330A> C (p.Lys1777Thr) single nucleotide variant Uncertain significance rs541585714 GRCh38 Chromosome 11, 46862661: 46862661
46 LRP4 NM_002334.3(LRP4): c.*1727G> A single nucleotide variant Uncertain significance rs558730059 GRCh38 Chromosome 11, 46857256: 46857256
47 LRP4 NM_002334.3(LRP4): c.*1727G> A single nucleotide variant Uncertain significance rs558730059 GRCh37 Chromosome 11, 46878807: 46878807
48 LRP4 NM_002334.3(LRP4): c.*1064C> G single nucleotide variant Uncertain significance rs886048343 GRCh38 Chromosome 11, 46857919: 46857919
49 LRP4 NM_002334.3(LRP4): c.*1064C> G single nucleotide variant Uncertain significance rs886048343 GRCh37 Chromosome 11, 46879470: 46879470
50 LRP4 NM_002334.3(LRP4): c.*261C> A single nucleotide variant Likely benign rs77376145 GRCh37 Chromosome 11, 46880273: 46880273

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 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.67 APC LRP5 LRP6 SOST
2
Show member pathways
12.51 AGRN HSPG2 LRP4 MUSK
3 12.03 APC LRP5 LRP6
4
Show member pathways
12.01 APC LRP5 LRP6 SOST
5 11.96 APC LRP5 LRP6
6
Show member pathways
11.95 APC LRP5 LRP6 SOST
7 11.7 APC LRP5 LRP6
8 11.7 LRP5 LRP6 SOST
9 11.48 AGRN LRP5 LRP6
10 11.39 APC LRP5 LRP6
11 11.3 AGRN MUSK RAPSN
12 11.25 AGRN LRP4 MUSK
13 11.16 APC LRP5 LRP6
14
Show member pathways
11.09 LRP5 LRP6
15 11.03 ACHE CHAT
16 11.02 LRP5 LRP6
17
Show member pathways
10.89 ACHE CHAT
18 10.79 AGRN HSPG2
19 10.56 ACHE CHAT
20 10.51 APC LRP5 LRP6
21 10.25 ACHE CHAT
22
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 9.8 ACHE AGRN APC DOK7 MUSK RAPSN
2 synapse GO:0045202 9.63 ACHE AGRN DOK7 LRP6 MUSK RAPSN
3 basement membrane GO:0005604 9.58 ACHE AGRN HSPG2
4 Wnt-Frizzled-LRP5/6 complex GO:1990851 9.37 LRP5 LRP6
5 neuromuscular junction GO:0031594 9.26 ACHE LRP4 MUSK RAPSN
6 Wnt signalosome GO:1990909 8.8 APC LRP5 LRP6
7 plasma membrane GO:0005886 10 ACHE AGRN APC DOK7 HSPG2 LRP4

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.97 AGRN LRP4 LRP5 LRP6 MUSK
2 endocytosis GO:0006897 9.72 LRP4 LRP5 LRP6
3 glycosaminoglycan biosynthetic process GO:0006024 9.59 AGRN HSPG2
4 toxin transport GO:1901998 9.58 LRP5 LRP6
5 bone morphogenesis GO:0060349 9.57 LRP5 LRP6
6 phosphatidylcholine biosynthetic process GO:0006656 9.56 ACHE CHAT
7 receptor clustering GO:0043113 9.54 AGRN LRP4
8 negative regulation of protein serine/threonine kinase activity GO:0071901 9.52 LRP5 LRP6
9 glycosaminoglycan catabolic process GO:0006027 9.51 AGRN HSPG2
10 beta-catenin destruction complex disassembly GO:1904886 9.49 APC LRP6
11 negative regulation of ossification GO:0030279 9.48 LRP4 SOST
12 gastrulation with mouth forming second GO:0001702 9.46 LRP5 LRP6
13 osteoblast development GO:0002076 9.43 ACHE LRP5
14 bone remodeling GO:0046849 9.4 LRP5 LRP6
15 neurotransmitter biosynthetic process GO:0042136 9.37 ACHE CHAT
16 branching involved in mammary gland duct morphogenesis GO:0060444 9.32 LRP5 LRP6
17 skeletal muscle acetylcholine-gated channel clustering GO:0071340 9.26 LRP4 MUSK
18 negative regulation of canonical Wnt signaling pathway GO:0090090 9.26 APC LRP4 LRP6 SOST
19 regulation of synaptic growth at neuromuscular junction GO:0008582 9.16 AGRN MUSK
20 Wnt signaling pathway GO:0016055 9.02 APC LRP4 LRP5 LRP6 SOST

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

# Name GO ID Score Top Affiliating Genes
1 laminin binding GO:0043236 9.4 ACHE AGRN
2 Wnt-activated receptor activity GO:0042813 9.37 LRP5 LRP6
3 Wnt-protein binding GO:0017147 9.33 LRP5 LRP6 MUSK
4 apolipoprotein binding GO:0034185 9.32 LRP4 LRP6
5 toxin transmembrane transporter activity GO:0019534 9.26 LRP5 LRP6
6 coreceptor activity involved in canonical Wnt signaling pathway GO:1904928 8.96 LRP5 LRP6
7 coreceptor activity involved in Wnt signaling pathway GO:0071936 8.62 LRP5 LRP6

Sources for Cenani-Lenz Syndactyly Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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