ODCs

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X-linked distal arthrogryposis multiplex congenita

1 OMIM reference -
1 associated gene
30 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Oculocutaneous albinism type 2

1 OMIM reference -
2 associated genes
12 signs/symptoms

X-linked distal arthrogryposis multiplex congenita

Oculocutaneous albinism type 2

UBA1	(UniProt - OMIM)		MC1R	(UniProt - OMIM)
			OCA2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	UBA1	(0.63)	MC1R

Citations in the biomedical literature:

X-linked distal arthrogryposis multiplex congenita		Oculocutaneous albinism type 2
	Synonym(s): - SMAX2 - Spinal muscular atrophy with arthrogryposis - X-linked infantile spinal muscular atrophy - X-linked spinal muscular atrophy type 2		Synonym(s): - OCA2

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: neonatal/infancy Average age of death: normal Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C535380		External references: 1 OMIM reference - 1 MeSH reference: C537730


COMMON SIGNS	- Strabismus / squint

X-linked distal arthrogryposis multiplex congenita		Oculocutaneous albinism type 2
	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 - Thin / hypoplastic / hyperconvex fingernails		Very frequent - Autosomal recessive inheritance - Iris albinism / ocular albinism Frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Decreased hair pigmentation / hypopigmentation of hair - Excessive freckling - Mild visual loss / impaired visual acuity - Nystagmus - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Photophobia Occasional - Melanoma - Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)