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1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
40 signs/symptoms
Typical urticaria pigmentosa
SHORT syndrome

KIT PIK3R1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KIT
(0.9)
PIK3R1



Citations in the biomedical literature:


Typical urticaria pigmentosa
KIT
SHORT syndrome
PIK3R1



Typical urticaria pigmentosa
SHORT syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Aarskog-Ose-Pande syndrome
- Lipodystrophy - Rieger anomaly - diabetes
- Rieger anomaly - partial lipodystrophy

Classification (Orphanet):
- Rare allergic disease
- Rare hematologic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537327

SHORT syndrome

Very frequent
- Aniridia / iris hypoplasia
- Anterior chamber anomaly
- Autosomal dominant inheritance
- Deepset eyes / enophthalmos
- Hyperextensible joints / articular hyperlaxity
- Inguinal / inguinoscrotal / crural hernia
- Sensorineural deafness / hearing loss
- Short stature / dwarfism / nanism

Frequent
- Abnormal fat distribution / lipodystrophy
- Anomalies of teeth and dentition
- Complete / partial microdontia
- Diabetes mellitus
- Enamel anomaly
- Face / facial anomalies
- Glaucoma
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Insulin resistance
- Megalocornea
- Mid-facial hypoplasia / short / small midface
- Pupillary anomalies / mydriasis / myosis / tonic pupil
- Rippled skin
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Weight loss / loss of appetite / break in weight curve / general health alteration

Occasional
- Broad nasal root
- Clinodactyly of fifth finger
- Corneal clouding / opacity / vascularisation
- Embryotoxon
- Flat cheek bones / malar hypoplasia
- Frontal bossing / prominent forehead
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hypertelorism
- Iridocorneal dysgenesis / iridogoniodysgenesis
- Micrognathia / retrognathia / micrognathism / retrognathism
- Myotonia
- Prominent supraorbital ridge
- Short hand / brachydactyly
- Telecanthus / canthal dystopy
- Triangular face
- Upper limb polydactyly / hexadactyly
- Urinary / renal lithiasis / kidney stones / nephritic colic


Typical urticaria pigmentosa

(no data available)