Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by intrauterine growth retardation, microcephaly, hypotonia, vision impairment, speech and language delay and lactic acidosis with reduced respiratory chain activity (typically complex I). Additonal features may include macrocytic anemia, tremor, muscular atrophy, dysmetria and mild intellectual disability.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome | |
| fr | Syndrome de retard de croissance et de développement-hypotonie-troubles visuels-acidose lactique | |
| de | Wachstums- und Entwicklungsverzögerung-Hypotonie-Sehbeeinträchtigung-Laktatazidose-Syndrom | |
| es | Síndrome de retraso del crecimiento y el desarrollo-hipotonía-trastorno ocular-acidosis láctica | |
| it | Sindrome da ritardo della crescita e dello sviluppo, ipotonia, compromissione della vista, acidosi lattica | |
| nl | Groei- en ontwikkelingsachterstand - hypotonie - visuele beperking - lactaatacidose-syndroom | |
| pt | Síndrome de perturbação do desenvolvimento e atraso de crescimento-hipotonia-incapacidade visual-acidose láctica | |
| pl | Zespół opóźnienie wzrostu i rozwoju-hipotonia-upośledzenie wzroku-kwasica mleczanowa | |
| cs | Syndrom zahrnující opoždění růstu a vývoje, hypotonii, poruchu zraku a laktátovou acidózu | |
| uk | Синдром затримки росту і розвитку-гіпотонії-порушення зору- молочнокислого ацидозу | |
| zh | 生长发育迟缓-低张力-视力损害-乳酸酸中毒综合征 | |
| tr | Büyüme ve gelişme geriliği-hipotoni-görme bozukluğu-laktik asidoz sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615578 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.2Y | NTBT | attributed | validated |
| MONDO | 0014261 | E | validated | |
| UMLS | C4751596 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:254822Mitochondrial oxidative phosphorylation disorder with no known mechanism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SFXN4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:16088 | ENSG00000183605 | 615564 | 10q26.11 | sideroflexin 4 | 24119684[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 24119684[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/391348
- This record as JSON: /data/d/391348.json