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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]

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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Last update

21/6/2017

Phenotype: Adrenoleukodystrophy

OMIM: 300100
Inheritance: X-linked recessive
Classification: Endocrine, nutritional and metabolic disease

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

ABCD1 || c.686T>C (1072T>C)

Gene/Locus:	ABCD1
Dna Change:	c.686T>C (1072T>C)
Protein Change:	p.Leu229Pro
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 1
Transcript:	NM_000033.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Morocco	Jews	NA	3 families/10 unrelated families	NA	Neumann S et al., 2001Neumann S, Topper A, Mandel H, Shapira I, Golan O, Gazit E, Loewenthal R, . Identification of new mutations in Israeli patients with X-linked adrenoleukodystrophy.. Genet. Test.. 2001; 5(1):65-8

References

Neumann S, Topper A, Mandel H, Shapira I, Golan O, Gazit E, Loewenthal R, Identification of new mutations in Israeli patients with X-linked adrenoleukodystrophy.Genet. Test.. 2001; 5(1):65-8

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Adrenoleukodystrophy

References