MFMD

Search

Browse the database

By Disease
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]

By Gene
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: Porphyria, acute intermittent

OMIM: 176000
Inheritance: Autosomal dominant
Classification: Endocrine, nutritional and metabolic disease

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

HMBS || c.849G>A

Gene/Locus:	HMBS
Dna Change:	c.849G>A
Protein Change:	p.Trp283Ter
Mutation Type:	Substitution
Mutation Effect:	Nonsense
Location:	exon 14
Transcript:	NM_000190.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
France	NA	NA	5%	1000 years (40 generations)	Schneider-Yin X et al., 2002Schneider-Yin X, Hergersberg M, Goldgar DE, Rüfenacht UB, Schuurmans MM, Puy H, Deybach JC, Minder EI, . Ancestral founder of mutation W283X in the porphobilinogen deaminase gene among acute intermittent porphyria patients.. Hum. Hered.. 2002; 54(2):69-81

HMBS || c.669_698del30

Gene/Locus:	HMBS
Dna Change:	c.669_698del30
Protein Change:	p.Glu223_Leu232del
Mutation Type:	Deletion
Mutation Effect:
Location:	exon 11
Transcript:	NM_000190.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Spain	NA	Southeastern (Murcia)	22 Patients/5 unrelated families	NA	Guillén-Navarro E et al., 2004Guillén-Navarro E, Carbonell P, Glover G, Sánchez-Solís M, Fernández-Barreiro A, . Novel HMBS founder mutation and significant intronic polymorphism in Spanish patients with acute intermittent porphyria.. Ann. Hum. Genet.. 2004; 68(0):509-14

References

Guillén-Navarro E, Carbonell P, Glover G, Sánchez-Solís M, Fernández-Barreiro A, Novel HMBS founder mutation and significant intronic polymorphism in Spanish patients with acute intermittent porphyria.Ann. Hum. Genet.. 2004; 68(0):509-14

Schneider-Yin X, Hergersberg M, Goldgar DE, Rüfenacht UB, Schuurmans MM, Puy H, Deybach JC, Minder EI, Ancestral founder of mutation W283X in the porphobilinogen deaminase gene among acute intermittent porphyria patients.Hum. Hered.. 2002; 54(2):69-81

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Porphyria, acute intermittent

References