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Acromegaly
1 OMIM reference -
1 associated gene
52 signs/symptoms
PROTEIN INTERACTIONS: 1
Hypohidrotic ectodermal dysplasia with immunodeficiency
2 OMIM references -
2 associated genes
No signs/symptoms info
Acromegaly
Hypohidrotic ectodermal dysplasia with immunodeficiency

AIP
(UniProt - OMIM)
 IKBKG
(UniProt - OMIM)
NFKBIA
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
AIP
(0.63)
IKBKG


Citations in the biomedical literature:


Acromegaly
AIP
Hypohidrotic ectodermal dysplasia with immunodeficiency
IKBKG NFKBIA



Acromegaly
Hypohidrotic ectodermal dysplasia with immunodeficiency

Synonym(s):
(no synonyms)

Synonym(s):
- Anhidrotic ectodermal dysplasia with immunodeficiency
- EDA-ID
- HED-ID
Classification (Orphanet):
- Rare endocrine disease
- Rare infertility
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare immune disease
- Rare skin disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
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: child / adolescent
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: D000172
External references:
2 OMIM references -
No MeSH references
Acromegaly

Very frequent
- Abnormal sole / deep creases
- Anomalies of the endocrine glands
- Articular / joint pain / arthralgia
- Asthenia / fatigue / weakness
- Autosomal dominant inheritance
- 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
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- 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
- Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria
- Somnolence / hypersomnia / parasomnia


Hypohidrotic ectodermal dysplasia with immunodeficiency

(no data available)