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Craniopharyngioma

2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

X-linked distal arthrogryposis multiplex congenita

1 OMIM reference -
1 associated gene
30 signs/symptoms

Craniopharyngioma

X-linked distal arthrogryposis multiplex congenita

BRAF	(UniProt - OMIM)		UBA1	(UniProt - OMIM)
CTNNB1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CTNNB1	(0.52)	UBA1

Citations in the biomedical literature:

Craniopharyngioma		X-linked distal arthrogryposis multiplex congenita
	Synonym(s): (no synonyms)		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 neurologic 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: - Type of inheritance: sporadic		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: No OMIM references 1 MeSH reference: D003397		External references: 1 OMIM reference - 1 MeSH reference: C535380

X-linked distal arthrogryposis multiplex congenita
	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
Craniopharyngioma
(no data available)