Ectodermal Dysplasia 7, Hair/nail Type (ECTD7)

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UniProtKB/Swiss-Prot: ⁷³ 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. Ectodermal dysplasia of the hair/nail type is characterized by hypotrichosis and nail dystrophy without non-ectodermal or other ectodermal manifestations.

MalaCards based summary: Ectodermal Dysplasia 7, Hair/nail Type, also known as ectd7, is related to woolly hair, autosomal dominant and naegeli-franceschetti-jadassohn syndrome. An important gene associated with Ectodermal Dysplasia 7, Hair/nail Type is KRT74 (Keratin 74), and among its related pathways/superpathways is Hair follicle development: cytodifferentiation - part 3 of 3. Affiliated tissues include skin, and related phenotypes are sparse scalp hair and dystrophic toenail

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. (614929) (Updated 08-Dec-2022)

Disease Ontology: ¹¹ A pure hair and nail ectodermal dysplasia that has material basis in homozygous or compound heterozygous mutation in KRT74 on chromosome 12q13.13.

Clinical features from OMIM®:

Search Clinical Trials, NIH Clinical Center for Ectodermal Dysplasia 7, Hair/nail Type