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1 OMIM reference -
1 associated gene
7 signs/symptoms

PROTEIN INTERACTIONS: 1

X-linked dominant chondrodysplasia punctata

1 OMIM reference -
1 associated gene
28 signs/symptoms

Tietz syndrome

X-linked dominant chondrodysplasia punctata

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MITF	(0.63)	EBP

Citations in the biomedical literature:

Tietz syndrome		X-linked dominant chondrodysplasia punctata
	Synonym(s): - Hypopigmentation-deafness syndrome		Synonym(s): - CDPX2 - CDPXD - CPXD - Chondrodystrophia calcificans congenita - Conradi-HÃ¼nermann-Happle syndrome - X-linked chondrodysplasia punctata type 2

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

	Classification (ICD10): (no data available)		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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 dominant		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: x-linked dominant

	External references: 1 OMIM reference - 1 MeSH reference: C536919		External references: 1 OMIM reference - No MeSH references

Tietz syndrome		X-linked dominant chondrodysplasia punctata
	Very frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Absent / decreased / thin eyebrows - Anterior chamber anomaly - Autosomal dominant inheritance - Decreased hair pigmentation / hypopigmentation of hair - Diffuse / generalised skin hypopigmentation / cutaneous albinism - Hearing loss / hypoacusia / deafness		Very frequent - Decreased body hair / axillar / pubic hairlessness - Dysplastic / thick / grooved fingernails - Epicanthic folds - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Ichthyosis / ichthyosiform dermatitis - Joint / articular deformation - Kyphosis - Ptosis - Short stature / dwarfism / nanism - Upper limb asymmetry / hemiatrophy / hemihypertrophy Frequent - Optic nerve anomaly / optic atrophy / anomaly of the papilla Occasional - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Abnormal vertebral size / shape - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Brittle hair / distrix / trichorrhexis - Cataract / lens opacification - Clinodactyly of fifth finger - Epiphyseal anomaly - Flat cheek bones / malar hypoplasia - Flat face - Frontal bossing / prominent forehead - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Microcornea - Polydactyly of toes - Rhizomelic micromelia - Sensorineural deafness / hearing loss - Skin hypoplasia / aplasia / atrophy - Talipes-varus / metatarsal varus