X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
Synonyms: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadriparesis, Leber´s congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal α-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency | X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome |
| fr | Syndrome de déficience intellectuelle liée à l'X-spasticité des membres-dystrophie de la rétine-déficit en arginine vasopressine | Syndrome de déficience intellectuelle liée à l'X-spasticité des membres-dystrophie de la rétine-diabète insipide |
| de | X-chromosomale Intelligenzminderung-Spastizität der Extremitäten-Netzhautdystrophie-Arginin-Vasopressin-Mangel-Syndrom | |
| es | Discapacidad intelectual ligada al cromosoma X-espasticidad de las extremidades-distrofia retiniana-deficiencia de arginina vasopresina | |
| it | Disabilità intellettiva legata all'X-spasticità degli arti-distrofia della retina-deficit di arginina vasopressina | Sindrome disabilità intellettiva legata all'X-spasticità degli arti-distrofia retinica-diabete insipido |
| nl | X-gebonden intellectuele achterstand - spasticiteit van ledemaat - retinadystrofie - deficiëntie van arginine-vasopressine-syndroom | |
| pt | Perturbação do desenvolvimento intelectual ligada ao X-espasticidade dos membros-distrofia da retina-deficiência de arginina vasopressina | |
| pl | Zespół niepełnosprawności intelektualnej sprzężonej z chromosomem X, sztywności kończyn, dystrofii siatkówki i moczówki prostej | Niepełnosprawność intelektualna sprzężona z chromosomem X – spastyczność kończyn – dystrofia siatkówki – niedobór wazopresyny argininowej |
| cs | X-vázaný syndrom zahrnující mentální retardaci, spasticitu končetin, dystrofii sítnice a diabetes insipidus | = en |
| uk | Х-зчеплена розумова відсталість-спастичність кінцівок-дистрофія сітківки- дефіцит аргінін-вазопресину | Х-зчеплений синдром розумової відсталості-спастичності кінцівок-дистрофії сітківки-цукрового діабету |
| zh | X连锁遗传智力障碍-肢体痉挛-视网膜营养不良-尿崩症综合征 | |
| tr | X'e bağlı zihinsel yetersizlik-ekstremite spastisitesi-retina distrofi-diabetes insipidus sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0018495 | E | validated | |
| UMLS | C4517296 | 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 (4):
- ORPHA:79191Disorder of purine metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PRPS1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9462 | ENSG00000147224 | 311850 | Xq22.3 | phosphoribosyl pyrophosphate synthetase 1 | 24961627[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 24961627[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24961627[PMID] |
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
35 annotations · validated 2019-08-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002187 | Intellectual disability, profound | |
| Frequent (79-30%) | ||
| HP:0008058 | Aplasia/Hypoplasia of the optic nerve | |
| HP:0008936 | Axial hypotonia | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0000490 | Deeply set eye | |
| HP:0012448 | Delayed myelination | |
| HP:0000873 | Diabetes insipidus | |
| HP:0000268 | Dolichocephaly | |
| HP:0004639 | Elevated amniotic fluid alpha-fetoprotein | |
| HP:0000577 | Exotropia | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0006801 | Hyperactive deep tendon reflexes | |
| HP:0000316 | Hypertelorism | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0002509 | Limb hypertonia | |
| HP:0000369 | Low-set ears | |
| HP:0001116 | Macular coloboma | |
| HP:0000543 | Optic disc pallor | |
| HP:0012736 | Profound global developmental delay | |
| HP:0000556 | Retinal dystrophy | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0001525 | Severe failure to thrive | |
| HP:0004322 | Short stature | |
| HP:0030211 | Slow pupillary light response | |
| HP:0001285 | Spastic tetraparesis | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0007965 | Undetectable visual evoked potentials | |
| Occasional (29-5%) | ||
| HP:0030927 | 1-minute APGAR score of 0 | |
| HP:0030921 | 5-minute APGAR score of 1 | |
| HP:0003487 | Babinski sign | |
| HP:0010536 | Central sleep apnea | |
| HP:0002169 | Clonus | |
| HP:0006579 | Prolonged neonatal jaundice | |
| Excluded (0%) | ||
| HP:0011903 | HbH hemoglobin | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 26089585[PMID]_24961627[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/423479
- This record as JSON: /data/d/423479.json