176000.1.1

United Arab Emirates

Hyponatremia; Systemic lupus erythematosus; Increased urinary porphobilinogen; Elevated urinary delta-aminolevulinic acid; Arthralgia

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000190.4:c.594G>A	1		Porphyria, Acute Intermittent

Patient is comorbid for SLE and AIP.

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
176000.1.2	United Arab Emirates	Hyponatremia	Female	Yes		Sister of 176000.1.1
176000.1.3	United Arab Emirates	Episodic abdominal pain; Episodic vomiting	Unknown	Yes		Cousin of 176000.1.1