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1 OMIM reference -
11 associated genes
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
6 signs/symptoms
Idiopathic pulmonary fibrosis
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome

ATP11A DSP
DPP9
DSP
FAM13A
MUC5B
OBFC1
SFTPA1
SFTPA2
SFTPC
TERC
TERT


COMMON
GENES
DSP



Citations in the biomedical literature:


Idiopathic pulmonary fibrosis
ATP11A DPP9 DSP FAM13A MUC5B OBFC1
SFTPA1 SFTPA2 SFTPC TERC TERT
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome



Idiopathic pulmonary fibrosis
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome

Synonym(s):
- UIP
- Usual interstitial pneumonia

Synonym(s):
- Carvajal syndrome
- Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome
- Wooly hair - palmoplantar keratoderma - dilated cardiomyopathy
- Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome

Classification (Orphanet):
- Rare respiratory disease
Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Diseases of the respiratory system -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: D054990
External references:
1 OMIM reference -
No MeSH references

Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome

Very frequent
- Autosomal recessive inheritance
- Cardiomyopathy / hypertrophic / dilated
- Palmoplantar hyperkeratosis / keratoderma
- Woolly / frizzy hair

Occasional
- Heart / cardiac failure
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment


Idiopathic pulmonary fibrosis

(no data available)