Information on FHL7

Basic details

Name: Lysinuric protein intolerance | Acronym: FHL7
Alt. names: Hemophagocytic lymphohistiocytosis, familial, 7 | SLC7A7 deficiency

Gene: SLC7A7 | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 1999

Last updated on: 2023-02-28 16:41:18 by

OMIM: 222700

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

It is characterized by lysinuric protein intolerance, bleeding tendency, alveolar proteinosis. Hyper-inflammatory response of macrophages, Normal NK cell function, normal B and T cell numbers.

Management

Description of management option has not been reviewed yet.

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0 reported cases added to GenIA

SubjectID	Sex	Fam.ID	AD	AFM	Validity	Country	Population	Reference & Pub.code

AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).

Summary of clinical findings

[Considering only Definitive and Possible cases]

Rank	Clinical term	Present	Unreported
1	Global developmental delay	10 (99.9%)	0 (0.0%)
2	Hyperlysinuria	10 (99.9%)	0 (0.0%)
3	Hypolysinemia	10 (99.9%)	0 (0.0%)
4	Infantile onset	10 (99.9%)	0 (0.0%)
5	Protein avoidance	9 (90.0%)	1 (10.0%)
6	Hepatomegaly	8 (80.0%)	2 (20.0%)
7	Osteoporosis	5 (83.3%)	1 (16.7%)
8	Anemia	4 (57.1%)	3 (42.9%)
9	Muscular hypotonia	4 (44.4%)	5 (55.6%)
10	Intellectual disability	2 (50.0%)	2 (50.0%)
11	Respiratory insufficiency	1 (25.0%)	3 (75.0%)

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Summary of treatment outcomes

[Considering only Definitive and Possible cases]

Treatment ⓘ	Responses & clinical indications

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