WRCN
MCID: WRB006
MIFTS: 24

Warburg-Cinotti Syndrome (WRCN)

Categories: Genetic diseases, Skin diseases

Aliases & Classifications for Warburg-Cinotti Syndrome

MalaCards integrated aliases for Warburg-Cinotti Syndrome:

Name: Warburg-Cinotti Syndrome 57 72 29 6 17
Wrcn 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable presenting symptoms


HPO:

31
warburg-cinotti syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Warburg-Cinotti Syndrome

UniProtKB/Swiss-Prot : 72 Warburg-Cinotti syndrome: An autosomal dominant disease characterized by progressive corneal neovascularization, keloid formation, chronic skin ulcers, wasting of subcutaneous tissue, flexion contractures of the fingers, and acro- osteolysis.

MalaCards based summary : Warburg-Cinotti Syndrome, also known as wrcn, is related to acroosteolysis and keloid formation. An important gene associated with Warburg-Cinotti Syndrome is DDR2 (Discoidin Domain Receptor Tyrosine Kinase 2). Related phenotypes are high palate and gingival overgrowth

OMIM® : 57 Warburg-Cinotti syndrome is characterized by progressive corneal neovascularization, keloid formation, chronic skin ulcers, wasting of subcutaneous tissue, flexion contractures of the fingers, and acroosteolysis (Xu et al., 2018). (618175) (Updated 05-Apr-2021)

Related Diseases for Warburg-Cinotti Syndrome

Diseases related to Warburg-Cinotti Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 acroosteolysis 10.2
2 keloid formation 10.2
3 corneal neovascularization 10.2
4 keloid disorder 10.2

Symptoms & Phenotypes for Warburg-Cinotti Syndrome

Human phenotypes related to Warburg-Cinotti Syndrome:

31 (show all 35)
# Description HPO Frequency HPO Source Accession
1 high palate 31 very rare (1%) HP:0000218
2 gingival overgrowth 31 very rare (1%) HP:0000212
3 visual impairment 31 very rare (1%) HP:0000505
4 elbow flexion contracture 31 very rare (1%) HP:0002987
5 dental crowding 31 very rare (1%) HP:0000678
6 conductive hearing impairment 31 very rare (1%) HP:0000405
7 long face 31 very rare (1%) HP:0000276
8 joint swelling 31 very rare (1%) HP:0001386
9 wrist flexion contracture 31 very rare (1%) HP:0001239
10 underdeveloped nasal alae 31 very rare (1%) HP:0000430
11 atresia of the external auditory canal 31 very rare (1%) HP:0000413
12 ankle flexion contracture 31 very rare (1%) HP:0006466
13 follicular hyperkeratosis 31 very rare (1%) HP:0007502
14 posteriorly rotated ears 31 very rare (1%) HP:0000358
15 retinal dystrophy 31 very rare (1%) HP:0000556
16 pneumothorax 31 very rare (1%) HP:0002107
17 hypoplasia of the ear cartilage 31 very rare (1%) HP:0100720
18 thin skin 31 very rare (1%) HP:0000963
19 narrow palpebral fissure 31 very rare (1%) HP:0045025
20 short chin 31 very rare (1%) HP:0000331
21 osteolytic defects of the phalanges of the hand 31 very rare (1%) HP:0009771
22 narrow nose 31 very rare (1%) HP:0000460
23 sterile abscess 31 very rare (1%) HP:0025616
24 cholesteatoma 31 very rare (1%) HP:0009797
25 low-set ears 31 HP:0000369
26 epicanthus 31 HP:0000286
27 corneal neovascularization 31 HP:0011496
28 blepharophimosis 31 HP:0000581
29 erythema 31 HP:0010783
30 midface retrusion 31 HP:0011800
31 flexion contracture of finger 31 HP:0012785
32 poor wound healing 31 HP:0001058
33 decreased corneal thickness 31 HP:0100689
34 symblepharon 31 HP:0430007
35 limbal stem cell deficiency 31 HP:0032107

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Mouth:
high palate
gingival hypertrophy (uncommon)

Head And Neck Face:
long face
midface retrusion, mild (in some patients)

Head And Neck Eyes:
blepharophimosis
epicanthal folds
narrow palpebral fissures
corneal vascular pannus

Head And Neck Ears:
posteriorly rotated ears
cholesteatoma
conductive hearing loss (in some patients)
thin ear cartilage

Head And Neck Teeth:
malocclusion
crowded dentition

Head And Neck Nose:
small alae nasi
thin nose

Cardiovascular Heart:
mitral valve insufficiency (in some patients)

Skeletal Hands:
acroosteolysis, progressive
palmar fibrotic bands
cutaneous fusions

Muscle Soft Tissue:
paucity of subcutaneous tissue

Skin Nails Hair Skin Histology:
hyperkeratosis
orthokeratosis
dermal fibrosis
epidermal acanthosis, mild
hyperpigmentation of basal layer
more
Skeletal:
joint swelling
joint contractures

Skin Nails Hair Skin:
follicular hyperkeratosis
thin skin
lax skin
keloid-like plaques
chronic ulcerations on toes
more
Skin Nails Hair Skin Electron Microscopy:
orthokeratosis
thickened bundles of tonofilaments

Skin Nails Hair Nails:
dystrophic nails
loss of toenails (in older patients)

Endocrine Features:
hypothyroidism (in some patients)

Respiratory Lung:
pneumothorax (in some patients)

Skeletal Feet:
acroosteolysis, progressive
loss of toes

Clinical features from OMIM®:

618175 (Updated 05-Apr-2021)

Drugs & Therapeutics for Warburg-Cinotti Syndrome

Search Clinical Trials , NIH Clinical Center for Warburg-Cinotti Syndrome

Genetic Tests for Warburg-Cinotti Syndrome

Genetic tests related to Warburg-Cinotti Syndrome:

# Genetic test Affiliating Genes
1 Warburg-Cinotti Syndrome 29 DDR2

Anatomical Context for Warburg-Cinotti Syndrome

Publications for Warburg-Cinotti Syndrome

Articles related to Warburg-Cinotti Syndrome:

# Title Authors PMID Year
1
Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome. 6 57 61
30449416 2018
2
Arthropathy, osteolysis, keloids, relapsing conjunctival pannus and gingival overgrowth: a variant of polyfibromatosis? 6 57
23637089 2013
3
Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: a "new" syndrome? 6 57
17103436 2006
4
Pathophysiology of premature aging characteristics in Mendelian progeroid disorders. 61
32791128 2020

Variations for Warburg-Cinotti Syndrome

ClinVar genetic disease variations for Warburg-Cinotti Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DDR2 NM_006182.4(DDR2):c.1829T>C (p.Leu610Pro) SNV Pathogenic 587365 rs1558079436 GRCh37: 1:162743359-162743359
GRCh38: 1:162773569-162773569
2 DDR2 NM_006182.4(DDR2):c.2219A>G (p.Tyr740Cys) SNV Pathogenic 586979 rs1558081627 GRCh37: 1:162746096-162746096
GRCh38: 1:162776306-162776306
3 DDR2 NM_006182.4(DDR2):c.1728+6T>C SNV Uncertain significance 932050 GRCh37: 1:162742043-162742043
GRCh38: 1:162772253-162772253

UniProtKB/Swiss-Prot genetic disease variations for Warburg-Cinotti Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 DDR2 p.Leu610Pro VAR_081931
2 DDR2 p.Tyr740Cys VAR_081932

Expression for Warburg-Cinotti Syndrome

Search GEO for disease gene expression data for Warburg-Cinotti Syndrome.

Pathways for Warburg-Cinotti Syndrome

GO Terms for Warburg-Cinotti Syndrome

Sources for Warburg-Cinotti 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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