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Acromegaly
1 OMIM reference -
1 associated gene
52 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
Incontinentia pigmenti
1 OMIM reference -
1 associated gene
64 signs/symptoms
Acromegaly
Incontinentia pigmenti

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

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


Citations in the biomedical literature:


Acromegaly
AIP
Incontinentia pigmenti
IKBKG



Acromegaly
Incontinentia pigmenti

Synonym(s):
(no synonyms)

Synonym(s):
- Bloch-Siemens syndrome
- Bloch-Sulzberger syndrome
Classification (Orphanet):
- Rare endocrine disease
- Rare infertility
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare skin disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: x-linked dominant
External references:
1 OMIM reference -
1 MeSH reference: D000172
External references:
1 OMIM reference -
1 MeSH reference: D007184
COMMON
SIGNS 		- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Hyperhidrosis / increased sweating

Acromegaly
Incontinentia pigmenti

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
- 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
- Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria
- Somnolence / hypersomnia / parasomnia


Very frequent
- Abnormal fingernails
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Absent / small fingernails / anonychia of hands
- Anodontia / oligodontia / hypodontia
- Cutaneous rash
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Hair and scalp anomalies
- Irregular / in bands / reticular skin hyperpigmentation
- Irregular / patchy skin hypopigmentation
- Nails anomalies
- Telangiectasiae of the skin
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment
- Warts / papillomas
- X-linked dominant inheritance

Frequent
- Abnormal gait
- Alopecia
- Anomalies of ear and hearing
- Anomalies of hands
- Anomalies of the ribs
- Asymmetry of the body / hemiatrophy / hemihyperthrophy
- Chronic skin infection / ulcerations / ulcers / cancrum
- Cleft lip and palate
- Clinodactyly of fingers 1,2,3,4 / overlapping fingers
- Complete claw hand / camptodactyly of all fingers
- Corneal clouding / opacity / vascularisation
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Eosinophils anomalies / hypereosinophilia
- Hyperactivity / attention deficit
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Osteolysis / osteoclasia / bone destruction / erosions
- Scoliosis
- Short stature / dwarfism / nanism
- Strabismus / squint
- Supernumerary nipples / polythelia
- Tooth shape anomaly
- Visual loss / blindness / amblyopia

Occasional
- Abnormal toenails
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Blue sclerae
- Cataract / lens opacification
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Enamel anomaly
- Encephalitis
- Hand agenesis / absence
- Heart / cardiac failure
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Motor deficit / trouble
- Pulmonary hypertension
- Retinal detachment
- Retinal vascular anomalies / retinal telangiectasia
- Retinal / chorioretinal dysplasia / dystrophy
- Seizures / epilepsy / absences / spasms / status epilepticus
- Spina bifida occulta
- Syndactyly of fingers / interdigital palm
- Transient cerebral ischemia / stroke
- Umbilical hernia