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1 OMIM reference -
1 associated gene
7 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
28 signs/symptoms
Tietz syndrome
X-linked dominant chondrodysplasia punctata

MITF EBP


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Tietz syndrome
MITF
X-linked dominant chondrodysplasia punctata
EBP



Tietz syndrome
X-linked dominant chondrodysplasia punctata

Synonym(s):
- Hypopigmentation-deafness syndrome

Synonym(s):
- CDPX2
- CDPXD
- CPXD
- Chondrodystrophia calcificans congenita
- Conradi-H√ľnermann-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