UniProtKB/Swiss-Prot :
72
Ectodermal dysplasia 9, hair/nail type: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD9 is characterized by hypotrichosis and nail dystrophy without non-ectodermal or other ectodermal manifestations. Hypotrichosis usually occurs after birth with varying degrees of severity, ranging from mild hair loss to complete atrichia, including the loss of scalp hair, beard, eyebrows, eyelashes, axillary hair, and pubic hair. Nail dystrophy affects all 20 digits by causing short fragile nails or spoon nails (koilonychia).
MalaCards based summary :
Ectodermal Dysplasia 9, Hair/nail Type, also known as
ectd9, is related to
hypotrichosis and
ectodermal dysplasia. An important gene associated with Ectodermal Dysplasia 9, Hair/nail Type is
HOXC13 (Homeobox C13), and among its related pathways/superpathways is
Keratinization. Related phenotypes are
nail dystrophy and
absent eyelashes
Disease Ontology :
12
A pure hair and nail ectodermal dysplasia that has material basis in homozygous or compound heterozygous mutation in HOXC13 on chromosome 12q13.13.
OMIM® :
57
Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.
Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations. Hypotrichosis usually occurs after birth with varying degrees of severity, ranging from mild hair loss to complete atrichia, including the loss of scalp hair, beard, eyebrows, eyelashes, axillary hair, and pubic hair. Nail dystrophy affects all 20 digits by causing short fragile nails or spoon nails (koilonychia) (summary by Lin et al., 2012).
(614931) (Updated 05-Apr-2021)
