Gene Symbol:
ENPP1
HGNC:3356
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
6q23.2
Filters:

Definitive classifications

arterial calcification, generalized, of infancy, 1
Submitted as: OMIM:208000
AR
07/22/2015
Evaluated
09/11/2023
Submitted

Strong classifications

hypopigmentation-punctate palmoplantar keratoderma syndrome
Submitted as: OMIM:615522
AD
01/29/2021
Evaluated
03/31/2021
Submitted
hypopigmentation-punctate palmoplantar keratoderma syndrome
Submitted as: OMIM:615522
AD
04/16/2021
Evaluated
11/30/2023
Submitted
arterial calcification, generalized, of infancy, 1
Submitted as: OMIM:208000
AR
08/02/2023
Evaluated
11/30/2023
Submitted
hypophosphatemic rickets, autosomal recessive, 2
Submitted as: OMIM:613312
AR
10/24/2022
Evaluated
11/30/2023
Submitted

Supportive classifications

autosomal recessive inherited pseudoxanthoma elasticum
Submitted as: Orphanet:758
AR
09/14/2021
Evaluated
09/14/2021
Submitted
arterial calcification of infancy
Submitted as: Orphanet:51608
AD
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal recessive hypophosphatemic rickets
Submitted as: Orphanet:289176
AR
09/14/2021
Evaluated
09/14/2021
Submitted
hypopigmentation-punctate palmoplantar keratoderma syndrome
Submitted as: Orphanet:324561
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

hypopigmentation-punctate palmoplantar keratoderma syndrome
Submitted as: OMIM:615522
AD
07/05/2022
Evaluated
08/19/2023
Submitted

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