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1 OMIM reference -
5 associated genes
13 signs/symptoms
PROTEIN INTERACTIONS: 1
5 OMIM references -
5 associated genes
35 signs/symptoms
Multiple endocrine neoplasia type 1
Ear-patella-short stature syndrome

CDKN1A CDC6
CDKN1B CDT1
CDKN2B ORC1
CDKN2C ORC4
MEN1 ORC6


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CDKN1A
(0.7)
CDC6



Citations in the biomedical literature:


Multiple endocrine neoplasia type 1
CDKN1A CDKN1B CDKN2B CDKN2C MEN1
Ear-patella-short stature syndrome
CDC6 CDT1 ORC1 ORC4 ORC6



Multiple endocrine neoplasia type 1
Ear-patella-short stature syndrome

Synonym(s):
- MEN 1
- Wermer syndrome

Synonym(s):
- Meier-Gorlin syndrome

Classification (Orphanet):
- Rare endocrine disease
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: adult
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: D018761
External references:
5 OMIM references -
1 MeSH reference: C538012

Multiple endocrine neoplasia type 1
Ear-patella-short stature syndrome

Very frequent
- Anomalies of the endocrine glands
- Anomaly of pancreatic hormones
- Autosomal dominant inheritance
- Hypercalcemia
- Hyperparathyroidy
- Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies
- Neoplasms / tumors
- Parathyroids anomalies
- Structural anomalies of the pancreas

Frequent
- Cortico-adrenal hyperplasia / hypersecretion
- Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis
- Thyroid anomalies
- Xanthomas / lipomas



Very frequent
- Autosomal recessive inheritance
- Delayed bone age
- Epiphyseal anomaly
- External auditory canal atresia / stenosis / agenesis
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hyperextensible joints / articular hyperlaxity
- Hypoplastic mandibula / partial absence of the mandibula
- Intrauterine growth retardation
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Microstomia / little mouth
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia
- Narrowed / gracile diaphysis / diaphyses / long bones / dolichostenomelia
- Short stature / dwarfism / nanism
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Frequent
- Camptodactyly of fingers
- Clavicle absent / abnormal
- Clinodactyly of fifth finger
- Clitoris / labia majora / labia minora / female external genitalia hypoplasia
- Craniostenosis / craniosynostosis / sutural synostosis
- Female pseudohermaphrodism / virilisation / clitoridomegaly
- High vaulted / narrow palate
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Low set ears / posteriorly rotated ears
- Patella absent / abnormal (excluding luxation)
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Rib structure anomalies

Occasional
- Breast tissue / mammary gland absence / aplasia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Elbow dislocation
- Hearing loss / hypoacusia / deafness
- Hypospadias / epispadias / bent penis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Micropenis / small penis / agenesis
- Thick lips