WRCN
MCID: WRB006
MIFTS: 11

Warburg-Cinotti Syndrome (WRCN)

Categories: Genetic diseases

Aliases & Classifications for Warburg-Cinotti Syndrome

MalaCards integrated aliases for Warburg-Cinotti Syndrome:

Name: Warburg-Cinotti Syndrome 58 6
Wrcn 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable presenting symptoms


Classifications:



External Ids:

OMIM 58 618175

Summaries for Warburg-Cinotti Syndrome

OMIM : 58 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)

MalaCards based summary : Warburg-Cinotti Syndrome, is also known as wrcn. An important gene associated with Warburg-Cinotti Syndrome is DDR2 (Discoidin Domain Receptor Tyrosine Kinase 2). Affiliated tissues include skin.

Related Diseases for Warburg-Cinotti Syndrome

Symptoms & Phenotypes for Warburg-Cinotti Syndrome

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Mouth:
high palate
gingival hypertrophy (uncommon)

Skin Nails Hair Skin Histology:
hyperkeratosis
dermal fibrosis
orthokeratosis
epidermal acanthosis, mild
hyperpigmentation of basal layer
more
Head And Neck Face:
long face
midface retrusion, mild (in some patients)

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

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

Endocrine Features:
hypothyroidism (in some patients)

Cardiovascular Heart:
mitral valve insufficiency (in some patients)

Skeletal Hands:
acroosteolysis, progressive
palmar fibrotic bands
cutaneous fusions

Muscle Soft Tissue:
paucity of subcutaneous tissue

Skeletal:
joint swelling
joint contractures

Skin Nails Hair Skin:
thin skin
follicular hyperkeratosis
lax skin
keloid-like plaques
chronic ulcerations on toes
more
Head And Neck Eyes:
blepharophimosis
epicanthal folds
narrow palpebral fissures
corneal vascular pannus

Head And Neck Teeth:
malocclusion
crowded dentition

Head And Neck Nose:
small alae nasi
thin nose

Skin Nails Hair Skin Electron Microscopy:
orthokeratosis
thickened bundles of tonofilaments

Respiratory Lung:
pneumothorax (in some patients)

Skeletal Feet:
acroosteolysis, progressive
loss of toes

Clinical features from OMIM:

618175

Drugs & Therapeutics for Warburg-Cinotti Syndrome

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

Genetic Tests for Warburg-Cinotti Syndrome

Anatomical Context for Warburg-Cinotti Syndrome

MalaCards organs/tissues related to Warburg-Cinotti Syndrome:

42
Skin

Publications for Warburg-Cinotti Syndrome

Variations for Warburg-Cinotti Syndrome

ClinVar genetic disease variations for Warburg-Cinotti Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DDR2 NM_001014796.2(DDR2): c.2219A> G (p.Tyr740Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 162776306: 162776306
2 DDR2 NM_001014796.2(DDR2): c.2219A> G (p.Tyr740Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 162746096: 162746096
3 DDR2 NM_001014796.2(DDR2): c.1829T> C (p.Leu610Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 162743359: 162743359
4 DDR2 NM_001014796.2(DDR2): c.1829T> C (p.Leu610Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 162773569: 162773569

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
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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