ODCs

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Intellectual deficit - sparse hair - brachydactyly

1 OMIM reference -
2 associated genes
37 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

Tyrosinemia type 2

1 OMIM reference -
1 associated gene
21 signs/symptoms

Intellectual deficit - sparse hair - brachydactyly

Tyrosinemia type 2

ARID1B	(UniProt - OMIM)		TAT	(UniProt - OMIM)
SMARCA2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SMARCA2	(0.68)	TAT

Citations in the biomedical literature:

Intellectual deficit - sparse hair - brachydactyly		Tyrosinemia type 2
	Synonym(s): - Nicolaides-Baraitser syndrome		Synonym(s): - Keratosis palmoplantaris - corneal dystrophy - Oculocutaneous tyrosinemia - Richner-Hanhart syndrome - Tyrosinemia due to TAT deficiency - Tyrosinemia due to tyrosine aminotransferase deficiency - Tyrosinemia type II

	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): (no data available)		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly - Seizures / epilepsy / absences / spasms / status epilepticus - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Intellectual deficit - sparse hair - brachydactyly		Tyrosinemia type 2
	Very frequent - Anteverted nares / nostrils - Everted lower lip - Flared / thick ala nasi - High vaulted / narrow palate - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Joint / articular deformation - Long philtrum - Macrostomia / big mouth - Philtrum flat / large / featureless / absent cupidon bows - Short hand / brachydactyly - Thin / retracted lips - Triangular face Frequent - Abnormal implantation of hair - Abnormally placed nipples - Blepharophimosis / short palpebral fissures - Eczema - High arched eyebrows - Long / thick / curved lashes / trichomegaly / polytrichia - Metacarpal anomalies / Archibald's sign - Narrow nasal bridge - Rippled skin - Scoliosis - Short stature / dwarfism / nanism - Terminal broadening / clubbing of toes - Terminal / third phalangeal bone of fingers broadened / deviated - Undescended / ectopic testes / cryptorchidia / unfixed testes - Wide space between 1st-2nd toes Occasional - Advanced bone age - Congenital cardiac anomaly / malformation / cardiopathy - Delayed bone age - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Epiphyseal anomaly - Herniae		Very frequent - Autosomal recessive inheritance - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Corneal clouding / opacity / vascularisation - Follicular / erythematous / edematous papules / milium - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Palmoplantar hyperkeratosis / keratoderma Frequent - Aminoacid metabolism anomalies / aminoaciduria - Hyperhidrosis / increased sweating - Nystagmus - Photophobia - Psychic / behavioural troubles - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Occasional - Ataxia / incoordination / trouble of the equilibrium - Flat cheek bones / malar hypoplasia - Nails anomalies - Tremor - Visual loss / blindness / amblyopia