ODCs

Cytoscape Web

Click node...

X-linked distal arthrogryposis multiplex congenita

1 OMIM reference -
1 associated gene
30 signs/symptoms

PROTEIN INTERACTIONS: 1

4 associated genes
16 signs/symptoms

X-linked distal arthrogryposis multiplex congenita

MALT lymphoma

UBA1	(UniProt - OMIM)		BIRC3	(UniProt - OMIM)
			FOXP1	(UniProt - OMIM)
			IGH	(UniProt)
			MALT1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	UBA1	(0.72)	BIRC3

Citations in the biomedical literature:

X-linked distal arthrogryposis multiplex congenita		MALT lymphoma
	Synonym(s): - SMAX2 - Spinal muscular atrophy with arthrogryposis - X-linked infantile spinal muscular atrophy - X-linked spinal muscular atrophy type 2		Synonym(s): - Extranodal marginal zone B-cell lymphoma - MALToma - Mucosa-associated lymphatic tissue lymphoma - Mucosa-associated lymphoid tissue lymphoma

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare hematologic disease - Rare oncologic disease

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

	Epidemiological data: Class of prevalence: - Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: x-linked recessive		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: adulthood Average age of death: normal Type of inheritance: multigenic/multifactorial

	External references: 1 OMIM reference - 1 MeSH reference: C535380		External references: No OMIM references No MeSH references

X-linked distal arthrogryposis multiplex congenita		MALT lymphoma
	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		Very frequent - Asthenia / fatigue / weakness - Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis - Fever / chilling - Hematologic / blood / lymphatic cancer - Hyperhidrosis / increased sweating - Lung / pulmonary infiltrates - Nausea / vomiting / regurgitation / merycism / hyperemesis - Weight loss / loss of appetite / break in weight curve / general health alteration Frequent - Constipation Occasional - Acute abdominal pain / colic - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Defect / anomaly of lacrimal system - Lymphadenopathy / polyadenopathies - Mediastinal / hilar adenopathies - Repeat respiratory infections - Thyroid anomalies