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1 OMIM reference -
5 associated genes
13 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
30 signs/symptoms
Multiple endocrine neoplasia type 1
X-linked distal arthrogryposis multiplex congenita

CDKN1A UBA1
CDKN1B
CDKN2B
CDKN2C
MEN1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CDKN1B
(0.52)
UBA1



Citations in the biomedical literature:


Multiple endocrine neoplasia type 1
CDKN1A CDKN1B CDKN2B CDKN2C MEN1
X-linked distal arthrogryposis multiplex congenita
UBA1



Multiple endocrine neoplasia type 1
X-linked distal arthrogryposis multiplex congenita

Synonym(s):
- MEN 1
- Wermer syndrome

Synonym(s):
- SMAX2
- Spinal muscular atrophy with arthrogryposis
- X-linked infantile spinal muscular atrophy
- X-linked spinal muscular atrophy type 2

Classification (Orphanet):
- Rare endocrine disease
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- 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: -
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: x-linked recessive

External references:
1 OMIM reference -
1 MeSH reference: D018761
External references:
1 OMIM reference -
1 MeSH reference: C535380

Multiple endocrine neoplasia type 1
X-linked distal arthrogryposis multiplex congenita

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
- Abnormal gait
- Camptodactyly of fingers
- Restricted joint mobility / joint stiffness / ankylosis
- X-linked recessive inheritance

Frequent
- Broad nose / nasal bridge
- Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large
- Dolichocephaly / scaphocephaly
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Kyphosis
- Long philtrum
- Micrognathia / retrognathia / micrognathism / retrognathism
- Narrow rib cage / thorax
- Proximally set thumb
- Scoliosis
- Short neck
- Short / small nose
- Simian crease / transverse / unique palmar crease
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Abnormally placed nipples
- Dermoid sinus / dimple / pit (excluding sacral)
- Excess nuchal skin without pterygium colli
- Long / large ear
- Micropenis / small penis / agenesis
- Mouth held open
- Ptosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Strabismus / squint
- Thin / hypoplastic / hyperconvex fingernails