MCID: CNN011
MIFTS: 42

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 54 12 24 71 13 14
Syndactyly Type 7 12 50 56 71
Syndactyly Cenani Lenz Type 50 29 69
Cenani-Lenz Syndactyly 56 71
Cenani-Lenz Syndrome 56 71
Cenani Syndactylism 50 71
Cenani-Lenz Type Syndactyly 50
Syndactyly, Type Vii 24
Syndactyly Type Vii 71
Cenani Syndactyly 56
Clss 71

Characteristics:

Orphanet epidemiological data:

56
cenani-lenz syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
cenani-lenz syndactyly syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 212780
Disease Ontology 12 DOID:0090015
ICD10 33 Q78.4
Orphanet 56 ORPHA3258
UMLS via Orphanet 70 C1859309
ICD10 via Orphanet 34 Q78.4
MedGen 40 C1859309
MeSH 42 D013576

Summaries for Cenani-Lenz Syndactyly Syndrome

NIH Rare Diseases : 50 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. last updated: 8/26/2011

MalaCards based summary : Cenani-Lenz Syndactyly Syndrome, also known as syndactyly type 7, is related to paraurethral gland cancer and hypothyroidism, and has symptoms including micrognathia, prominent forehead and hypertelorism. 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 ECM proteoglycans. Affiliated tissues include bone, and related phenotypes are behavior/neurological and growth/size/body region

UniProtKB/Swiss-Prot : 71 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

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:

54

Head And Neck- Eyes:
downslanting palpebral fissures
hypertelorism

Genitourinary- Kidneys:
renal hypoplasia
renal aplasia

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

Head And Neck- Face:
micrognathia
prominent forehead

Skeletal- Limbs:
fused ulna and radius
short ulnae
short radii

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


Clinical features from OMIM:

212780

Human phenotypes related to Cenani-Lenz Syndactyly Syndrome:

32 (show all 9)
id Description HPO Frequency HPO Source Accession
1 micrognathia 32 HP:0000347
2 prominent forehead 32 HP:0011220
3 hypertelorism 32 HP:0000316
4 renal agenesis 32 HP:0000104
5 syndactyly 32 HP:0001159
6 renal hypoplasia 32 HP:0000089
7 downslanted palpebral fissures 32 HP:0000494
8 hypoplasia of the ulna 32 HP:0003022
9 hypoplasia of the radius 32 HP:0002984

MGI Mouse Phenotypes related to Cenani-Lenz Syndactyly Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.11 ACHE AGRN APC CHAT DOK7 HSPG2
2 growth/size/body region MP:0005378 10.09 ACHE AGRN APC CHAT DOK7 HSPG2
3 homeostasis/metabolism MP:0005376 10.02 ACHE AGRN APC CHAT HSPG2 LRP4
4 mortality/aging MP:0010768 10 ACHE AGRN APC CHAT DOK7 DPAGT1
5 muscle MP:0005369 9.81 HSPG2 MUSK RAPSN SCN4A ACHE AGRN
6 hearing/vestibular/ear MP:0005377 9.8 HSPG2 SCN4A ACHE APC DOK7
7 limbs/digits/tail MP:0005371 9.72 AGRN APC CHAT HSPG2 LRP4
8 nervous system MP:0003631 9.61 HSPG2 LRP4 MUSK RAPSN ACHE AGRN
9 respiratory system MP:0005388 9.28 ACHE AGRN CHAT DOK7 HSPG2 LRP4

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:

id Genetic test Affiliating Genes
1 Syndactyly Cenani Lenz Type 29
2 Cenani-Lenz Syndactyly Syndrome 24 LRP4

Anatomical Context for Cenani-Lenz Syndactyly Syndrome

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

39
Bone

Publications for Cenani-Lenz Syndactyly Syndrome

Articles related to Cenani-Lenz Syndactyly Syndrome:

id 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:

71
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 LRP4 LRP4, IVS6DS, G-A, +1 single nucleotide variant Pathogenic
2 LRP4 NM_002334.3(LRP4): c.479G> A (p.Cys160Tyr) single nucleotide variant Pathogenic rs267607221 GRCh37 Chromosome 11, 46921006: 46921006
3 LRP4 NM_002334.3(LRP4): c.1585G> A (p.Asp529Asn) single nucleotide variant Pathogenic rs267607220 GRCh37 Chromosome 11, 46914636: 46914636
4 LRP4 NM_002334.3(LRP4): c.409G> A (p.Asp137Asn) single nucleotide variant Pathogenic rs267607222 GRCh37 Chromosome 11, 46921435: 46921435
5 LRP4 LRP4, 4959G-C single nucleotide variant Pathogenic
6 LRP4 NM_002334.3(LRP4): c.1345G> A (p.Asp449Asn) single nucleotide variant Pathogenic rs267607224 GRCh37 Chromosome 11, 46916335: 46916335
7 LRP4 NM_002334.3(LRP4): c.1381A> C (p.Thr461Pro) single nucleotide variant Pathogenic rs267607223 GRCh37 Chromosome 11, 46916299: 46916299
8 LRP4 LRP4, IVS2AS, G-A, -9 single nucleotide variant Pathogenic

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:

id Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.97 ACHE AGRN APC DOK7 HSPG2 LRP4
2 synapse GO:0045202 9.55 ACHE AGRN DOK7 MUSK RAPSN
3 cell junction GO:0030054 9.43 ACHE AGRN APC DOK7 MUSK RAPSN
4 basal lamina GO:0005605 9.26 ACHE AGRN
5 neuromuscular junction GO:0031594 8.92 ACHE LRP4 MUSK RAPSN

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

id Name GO ID Score Top Affiliating Genes
1 negative regulation of Wnt signaling pathway GO:0030178 9.46 APC LRP4
2 synapse organization GO:0050808 9.43 AGRN LRP4
3 glycosaminoglycan biosynthetic process GO:0006024 9.4 AGRN HSPG2
4 phosphatidylcholine biosynthetic process GO:0006656 9.37 ACHE CHAT
5 glycosaminoglycan metabolic process GO:0030203 9.32 AGRN HSPG2
6 glycosaminoglycan catabolic process GO:0006027 9.26 AGRN HSPG2
7 receptor clustering GO:0043113 9.16 AGRN LRP4
8 neurotransmitter biosynthetic process GO:0042136 8.96 ACHE CHAT
9 skeletal muscle acetylcholine-gated channel clustering GO:0071340 8.8 LRP4 MUSK RAPSN

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

id Name GO ID Score Top Affiliating Genes
1 laminin binding GO:0043236 8.62 ACHE AGRN

Sources for Cenani-Lenz Syndactyly Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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