ODCs

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Mucocutaneous venous malformations

1 OMIM reference -
1 associated gene
25 connected diseases
3 signs/symptoms

Disease	Type of connection
Juvenile myelomonocytic leukemia
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
T-B+ severe combined immunodeficiency due to CD45 deficiency
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Autosomal agammaglobulinemia
LEOPARD syndrome
Metachondromatosis
Noonan syndrome
SHORT syndrome
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Acute promyelocytic leukemia
Laron syndrome with immunodeficiency

Synonym(s): - Cutaneous and mucosal venous malformation - VMCM

Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: normal Type of inheritance: autosomal dominant		External references: 1 OMIM reference - No MeSH references

Gene symbol	UniProt reference	OMIM reference
TEK	Q02763	600221

Very frequent

- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Autosomal dominant inheritance
- Vascular anomalies of skin / mucosae