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1 OMIM reference -
1 associated gene
52 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4
10 OMIM references -
7 associated genes
33 signs/symptoms
Acromegaly
Chronic mucocutaneous candidiasis

AIP CARD9
CLEC7A
ICAM1
IL17F
IL17RA
STAT1
TRAF3IP2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
AIP
(0.63)
CLEC7A



Citations in the biomedical literature:


Acromegaly
AIP
Chronic mucocutaneous candidiasis
CARD9 CLEC7A ICAM1 IL17F IL17RA STAT1
TRAF3IP2



Acromegaly
Chronic mucocutaneous candidiasis

Synonym(s):
(no synonyms)

Synonym(s):
- CMC
- Chronic mucocutaneous candidosis

Classification (Orphanet):
- Rare endocrine disease
- Rare infertility
- Rare oncologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare skin disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Certain infectious and parasitic diseases -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: D000172
External references:
10 OMIM references -
1 MeSH reference: D002178


COMMON
SIGNS
- Autosomal dominant inheritance
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria


Acromegaly
Chronic mucocutaneous candidiasis

Very frequent
- Abnormal sole / deep creases
- Anomalies of the endocrine glands
- Articular / joint pain / arthralgia
- Asthenia / fatigue / weakness
- Broad cheeks / cherub-like / cherubin face
- Broad foot
- Broad forehead
- Broad nose / nasal bridge
- Coarse face
- Deep palmar creases
- Hydrarthrosis / articular / joint effusion
- Hyperhidrosis / increased sweating
- Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism
- Macrodactyly / fingers hypertrophy / megalodactyly (hand)
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Osteoarthritis
- Prognathism / prognathia
- Tall stature / gigantism / growth acceleration
- Thick lips
- Thick skin / pachydermia / orange skin

Frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Acute palsy
- Anomalies of teeth and dentition
- Apnea / sleep apnea
- Chronic arterial hypertension
- Diabetes mellitus
- Enlargment of jaw / large jaw
- Facial pain / cephalalgia / migraine
- Frontal bossing / prominent forehead
- Hirsutism / hypertrichosis / Increased body hair
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Kyphosis
- Metrorrhagia / menorrhagia / hemorrhagic cycles / hyper / poly / spanio / dysmenorrhea
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Pituitary / hypophyseal neoplasm / tumor / carcinoma / cancer
- Puffy eyelids
- Rachidian / spine canal stenosis
- Synophris / synophrys

Occasional
- Acanthosis nigricans
- Acne / acnea
- Cardiomyopathy / hypertrophic / dilated
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Functional anomalies of the genital system
- Galactorrhea
- Impotence / painful erection / priapism / erection troubles
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Somnolence / hypersomnia / parasomnia


Very frequent
- Abnormal fingernails
- Abnormal toenails
- Anomalies of mouth, lip and philtrum
- Anomalies of skin, subcutaneous tissue and mucosae
- Anomalies of the immunitary system
- Chronic skin infection / ulcerations / ulcers / cancrum
- Cutaneous rash
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Nails anomalies
- Oral mucosa disease / cheilitis

Frequent
- Dyspareunia / coital pain / vaginal dryness
- Follicular / erythematous / edematous papules / milium
- Vagina anomalies / atresia / hydrometrocolpos / hymen imperforation

Occasional
- Anomalies of eyes and vision
- Cough
- Enamel anomaly
- Endocardium anomalies / fibroelastosis / endocarditis
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Fever / chilling
- Hematuria / microhematuria
- Hemoptysis
- Hepatitis / icterus / cholestasis
- Motor deficit / trouble
- Pruritus / itching
- Recurrent urinary infections
- Repeat respiratory infections
- Seizures / epilepsy / absences / spasms / status epilepticus