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Classical homocystinuria
1 OMIM reference -
1 associated gene
43 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 7
Carney complex
2 OMIM references -
1 associated gene
55 signs/symptoms
Classical homocystinuria
Carney complex

CBS
(UniProt - OMIM)
 PRKAR1A
(UniProt - OMIM)

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


Citations in the biomedical literature:


Classical homocystinuria
CBS
Carney complex
PRKAR1A



Classical homocystinuria
Carney complex

Synonym(s):
- Cystathionine beta-synthase deficiency
- Homocystinuria due to cystathionine beta-synthase deficiency
Synonym(s):
- Carney syndrome
- Myxoma - spotty pigmentation - endocrine overactivity
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
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:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: D056733
COMMON
SIGNS 		- Chronic arterial hypertension
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Kyphosis
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Psychic / behavioural troubles
- Transient cerebral ischemia / stroke

Classical homocystinuria
Carney complex

Very frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Autosomal recessive inheritance
- Lens dislocation / luxation / subluxation / ectopia lentis
- Long hand / arachnodactyly
- Long limbs / dolichostenomelia
- Mutiple fractures / bone fragility

Frequent
- Arterial embolism / thrombosis
- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Genu valgum
- Marfanoid morphotype
- Myopia
- Pectus carinatum
- Pectus excavatum
- Pulmonary thromboembolism
- Restricted joint mobility / joint stiffness / ankylosis
- Scoliosis
- Venous thrombosis / phlebitis / thrombophlebitis
- Visual loss / blindness / amblyopia

Occasional
- Abnormal hepatic enzymes / transaminases
- Anorexia
- Cataract / lens opacification
- Esophageal varices
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Glaucoma
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hepatomegaly / liver enlargement (excluding storage disease)
- Herniae
- High vaulted / narrow palate
- Intracranial / cerebral / meningeal hemorrhage
- Mucosal / cutaneous hemorrhage
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Psychosis / schizophrenia / maniac disorder
- Retinal detachment
- Retinitis pigmentosa / retinal pigmentary changes
- Seizures / epilepsy / absences / spasms / status epilepticus
- Urticaria


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
- Coarse face
- Fever / chilling
- Generalized obesity
- Heart / cardiac failure
- Hirsutism / hypertrichosis / Increased body hair
- Hydrarthrosis / articular / joint effusion
- Insulin-independent / type 2 diabetes
- Large hand
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Osteoarthritis
- Round face
- Thin skin
- 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
- 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