ORPHA:500545
Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare pervasive developmental disorder characterized by microcephaly, profound developmental delay, intellectual disability, bilateral cataracts, severe epilepsy including infantile spasms, hypotonia, irritability, feeding difficulties leading to failure to thrive, and stereotypic hand movements. The disease manifests in infancy. Brain imaging reveals delay in myelination and cerebral atrophy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract | |
| fr | Trouble neurologique du développement sévère avec troubles de l'alimentation-mouvements stéréotypés des mains-cataracte bilatérale | |
| de | Schwere neurologische Entwicklungsstörung mit Fütterproblemen-stereotype Handbewegungen-bilateraler Katarakt | |
| es | Trastorno grave del neurodesarrollo con dificultades para alimentarse-movimientos estereotipados de las manos-cataratas bilaterales | |
| it | Grave alterazione dello sviluppo neurologico con difficoltà di alimentazione-movimenti stereotipati delle mani-cataratta bilaterale | |
| nl | Ernstige neurologische ontwikkelingsstoornissen met voedingsproblemen - stereotiepe handbewegingen - bilateraal cataract | |
| pt | Perturbação do neurodesenvolvimento grave com dificuldades de alimentação-movimento estereotipado da mão-catarata bilateral | |
| pl | Ciężkie zaburzenie neurorozwojowe z trudnościami w odżywianiu, stereotypiami dłoni oraz obustronną zaćmą | |
| cs | Závažná neurovývojová porucha s obtížným krmením, stereotypickými pohyby rukou a bilaterální kataraktou | |
| uk | Тяжкі порушення нейророзвитку з труднощами при годуванні - стереотипні рухи рук - двостороння катаракта | |
| zh | 严重的神经发育障碍伴有喂养困难-手部刻板运动-双侧白内障 | |
| tr | Beslenme güçlüğü-stereotipik el hareketi-bilateral katarakt ile seyreden ağır nörogelişimsel bozukluk |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617393 | E | validated | |
| ICD-10 | F84.8 | NTBT | attributed | validated |
| MONDO | 0044306 | E | validated | |
| UMLS | C5568106 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:180772Rare disease with autism
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NACC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:20967 | ENSG00000160877 | 610672 | 19p13.13 | nucleus accumbens associated 1 | 28132692[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 28132692[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28132692[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.
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HPO phenotypes
23 annotations · validated 2020-01-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001508 | Failure to thrive | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0008947 | Floppy infant | |
| HP:0001263 | Global developmental delay | |
| HP:0000737 | Irritability | |
| HP:0001250 | Seizure | |
| HP:0012171 | Stereotypical hand wringing | |
| Frequent (79-30%) | ||
| HP:0002521 | Hypsarrhythmia | |
| HP:0002187 | Intellectual disability, profound | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000252 | Microcephaly | |
| HP:0002360 | Sleep abnormality | |
| Occasional (29-5%) | ||
| HP:0005949 | Apneic episodes in infancy | |
| HP:0000455 | Broad nasal tip | |
| HP:0002059 | Cerebral atrophy | |
| HP:0012430 | Cerebral white matter hypoplasia | |
| HP:0012448 | Delayed myelination | |
| HP:0002376 | Developmental regression | |
| HP:0001371 | Flexion contracture | |
| HP:0001118 | Juvenile cataract | |
| HP:0040288 | Nasogastric tube feeding | |
| HP:0002650 | Scoliosis | |
| HP:0001257 | Spasticity | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 28132692[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/500545
- This record as JSON: /data/d/500545.json