Aplasia Cutis Congenita (ACC) malady
Genetic diseases, Rare diseases, Skin diseases, Endocrine diseases categories
22Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 64Wikipedia, 32MalaCards
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OMIM:46 Aplasia cutis congenita (ACC) is defined as congenital localized absence of skin. The skin appears as a thin,... (107600) more...
MalaCards based summary: Aplasia Cutis Congenita, also known as scalp defect congenital, is related to adams-oliver syndrome 1 and adams oliver syndrome, and has symptoms including skull defect, aplasia/hypoplasia of the skin and spinal dysraphism. An important gene associated with Aplasia Cutis Congenita is BMS1 (BMS1 ribosome biogenesis factor), and among its related pathways are Reelin Pathway (Cajal-Retzius cells) and G protein signaling Regulation of CDC42 activity. Affiliated tissues include skin, bone and heart, and related mouse phenotype reproductive system.
Genetics Home Reference:22 Nonsyndromic aplasia cutis congenita is a condition in which babies are born with localized areas of missing skin (lesions). These areas resemble ulcers or open wounds, although they are sometimes already healed at birth. Lesions most commonly occur on the top of the head (skull vertex), although they can be found on the torso or limbs. In some cases, the bone and other tissues under the skin defect are also underdeveloped.
NIH Rare Diseases:42 Aplasia cutis congenita¬†is a condition in which there is congenital (present from birth) absence of skin, with or without the absence of underlying structures such as bone. it most commonly affects the scalp, but any location of the body can be affected. while most people with aplasia cutis congenita have no other abnormalities, some people have congenital malformations involving the cardiovascular (heart), gastrointestinal, genitourinary, and central nervous systems.¬†the¬†cause of this¬†condition is unclear and appears to be multifactorial (many different factors appear to play a role); contributing factors may include¬†teratogens, genes, trauma, and compromised skin perfusion.¬† last updated: 3/22/2010
Wikipedia:64 Aplasia cutis congenita (also known as \"Cutis aplasia,\" \"Congenital absence of skin,\" and... more...
Aplasia Cutis Congenita, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases, Endocrine diseases
Rare skin diseases
Characteristics (Orphanet epidemiological data):48
circumscribed cutaneous aplasia of the vertex:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal/infancy
Symptoms by clinical synopsis from OMIM:107600
Clinical features from OMIM:107600
Symptoms:48 (show all 9)
HPO human phenotypes related to Aplasia Cutis Congenita:(show all 10)
MalaCards organs/tissues related to Aplasia Cutis Congenita:32
Skin, Bone, Heart, Thyroid, Brain, Eye
Articles related to Aplasia Cutis Congenita:(show top 50) (show all 255)
Search GEO for disease gene expression data for Aplasia Cutis Congenita.
27ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet