|
AVA
MCID: ATR054
MIFTS: 29
|
Atrophoderma Vermiculata (AVA)
Categories:
Rare diseases, Skin diseases
|
|
|
|
MalaCards integrated aliases for Atrophoderma Vermiculata:
Characteristics:Orphanet epidemiological data:60
atrophoderma vermiculata
Inheritance: Autosomal recessive; Age of onset: Childhood; OMIM:58
Inheritance:
autosomal dominant
Miscellaneous:
onset typically in childhood although onset in late adolescence or early adulthood has been reported typically sporadic occurrence HPO:33
atrophoderma vermiculata:
Inheritance autosomal dominant inheritance autosomal recessive inheritance Classifications:
ICD10:
34
35
|
|
OMIM
:
58
Atrophoderma vermiculata, a form of keratosis pilaris atrophicans, typically presents in childhood with erythema and follicular keratotic papules that slowly progress to characteristic atrophy, which has been described as worm-eaten, reticular, or honeycomb, and occurs on the cheeks, preauricular area, and forehead. More rarely, the atrophy may extend to the upper lip, helices, ear lobes, and, in some cases, the limbs. The degree of inflammation, the presence of milia, and the extent of follicular plugs are variable (summary by Luria and Conologue, 2009). (209700)
MalaCards based summary : Atrophoderma Vermiculata, also known as atrophoderma vermiculatum, is related to keratosis pilaris atrophicans and rombo syndrome. An important gene associated with Atrophoderma Vermiculata is LRP1 (LDL Receptor Related Protein 1). Affiliated tissues include skin and heart, and related phenotypes are abnormality of the cardiovascular system and milia Wikipedia : 77 Atrophodermia vermiculata presents with erythematous follicular papules on the cheeks in childhood and,... more... |
Diseases related to Atrophoderma Vermiculata via text searches within MalaCards or GeneCards Suite gene sharing:(show all 20)
Graphical network of the top 20 diseases related to Atrophoderma Vermiculata:
|
Human phenotypes related to Atrophoderma Vermiculata:33
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:209700 |
|
|
Genetic tests related to Atrophoderma Vermiculata:
|
MalaCards organs/tissues related to Atrophoderma Vermiculata:42
Skin,
Heart
|
Articles related to Atrophoderma Vermiculata:(show all 19)
|
ClinVar genetic disease variations for Atrophoderma Vermiculata:6
|
|
Search
GEO
for disease gene expression data for Atrophoderma Vermiculata.
|
|
|
|