Cytoscape Web
Click node...

Colobomatous microphthalmia
9 OMIM references -
8 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Carney complex
2 OMIM references -
1 associated gene
55 signs/symptoms
Colobomatous microphthalmia
Carney complex

ABCB6
(UniProt - OMIM)
 PRKAR1A
(UniProt - OMIM)
GDF3
(UniProt - OMIM)
GDF6
(UniProt - OMIM)
SHH
(UniProt - OMIM)
SOX2
(UniProt - OMIM)
STRA6
(UniProt - OMIM)
TENM3
(UniProt - OMIM)
VSX2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SOX2
(0.63)
PRKAR1A


Citations in the biomedical literature:


Colobomatous microphthalmia
ABCB6 GDF3 GDF6 SHH SOX2 STRA6
TENM3 VSX2
Carney complex
PRKAR1A



Colobomatous microphthalmia
Carney complex

Synonym(s):
- MAC
- Microphthalmia - anophthalmia - coloboma
- Microphthalmia with colobomatous cyst
Synonym(s):
- Carney syndrome
- Myxoma - spotty pigmentation - endocrine overactivity
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
9 OMIM references -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: D056733
Carney complex

Very frequent
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Abnormal pigmentation of the oral mucosa / gingivae
- Acromegaly
- Adrenal neoplasm / tumor / carcinoma / cancer
- Autosomal dominant inheritance
- Cortico-adrenal hyperplasia / hypersecretion
- Cushingoid morphotype
- Endocrine tumor
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Heart / cardiac tumor
- Pigmented naevi / naevus pigmentosus / lentigo
- Skin tumors / lumps / epidermal cysts
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Thyroid neoplasm / tumor / carcinoma / cancer

Frequent
- Abnormal fat distribution / lipodystrophy
- Articular / joint pain / arthralgia
- Asthenia / fatigue / weakness
- Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP
- Breast neoplasm / tumor / carcinoma / cancer
- Broad foot
- Chronic arterial hypertension
- Coarse face
- Fever / chilling
- Generalized obesity
- Heart / cardiac failure
- Hirsutism / hypertrichosis / Increased body hair
- Hydrarthrosis / articular / joint effusion
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Insulin-independent / type 2 diabetes
- Kyphosis
- Large hand
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Osteoarthritis
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Psychic / behavioural troubles
- Round face
- Thin skin
- Transient cerebral ischemia / stroke
- Truncal obesity

Occasional
- Anaemia
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Mitral valve atresia / stenosis / narrowing
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Motor deficit / trouble
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Precocious puberty
- Striae
- Tall stature / gigantism / growth acceleration
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Weight loss / loss of appetite / break in weight curve / general health alteration


Colobomatous microphthalmia

(no data available)