ORPHA:534
Oculocerebrorenal syndrome of Lowe
Synonyms: Lowe disease · Lowe oculo-cerebro-renal dystrophy · Lowe oculo-cerebro-renal syndrome · Lowe oculocerebrorenal dystrophy · Lowe syndrome · OCRL
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, seizures, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oculocerebrorenal syndrome of Lowe | Lowe disease · Lowe oculo-cerebro-renal dystrophy · Lowe oculo-cerebro-renal syndrome · Lowe oculocerebrorenal dystrophy · Lowe syndrome · OCRL |
| fr | Syndrome oculo-cérébro-rénal de Lowe | Dystrophie oculo-cérébro-rénale de Lowe · Maladie de Lowe · OCRL · Syndrome de Lowe |
| de | Okulo-zerebro-renales Syndrom Lowe | Dystrophie, okulo-zerebro-renale, Typ Lowe · Lowe-Krankheit · Lowe-Syndrom · OCRL |
| es | Síndrome oculocerebrorrenal de Lowe | Síndrome óculo-cerebro-renal de Lowe · Distrofia oculocerebrorrenal de Lowe · Distrofia óculo-cerebro-renal de Lowe · Enfermedad de Lowe · OCRL · Síndrome de Lowe |
| it | Sindrome oculocerebrorenale di Lowe | Distrofia oculo-cerebro-renale di Lowe · Malattia di Lowe · OCRL · Sindrome di Lowe · Sindrome oculo-cerebro-renale di Lowe · Distrofia oculocerebrorenale di Lowe |
| nl | Oculocerebrorenaal syndroom van Lowe | Ziekte van Lowe · Oculocerebrorenale dystrofie van Lowe · Oculo-cerebro-renaal syndroom van Lowe · Syndroom van Lowe · OCRL · Oculo-cerebro-renale dystrofie van Lowe |
| pt | Síndrome óculo-cerebro-renal de Lowe | Síndrome Lowe |
| pl | Zespół oczno-mózgowo-nerkowy Lowe'a | Niedobór 5-fosfatazy fosfatydyloinozytolo-4,5-bisfosforanu · Choroba Lowe'a · Dystrofia oczno-mózgowo-nerkowa · OCR · OCRL · Oculocerebrorenal dystrophy · Zespół Lowe'a · Zespół oczno-mózgowo-nerkowy |
| cs | Loweho okulocerebrorenální syndrom | Loweho nemoc · Okulocerebrorenální syndrom - Lowe · OCR · OCRL · Okulocerebrorenální dystrofie · Okulocerebrorenální syndrom · Deficit fosfatidylinositol 4,5-bifosfát 5-fosfatázy · Loweův syndrom |
| uk | Окулоцереброренальний синдром Лоу | Хвороба Лоу · Окулоцереброренальна дистрофія Лоу · Окуло-церебро-ренальна дистрофія Лоу · Окуло-церебро-нирковий синдром Лоу · Синдром Лоу · OCRL · Дефіцит фосфатидилінозитол 4,5-біфосфат 5-фосфатази |
| zh | Lowe眼脑肾综合征 | 磷脂酰肌醇-4，5-二磷酸-5-磷酸酶缺乏症 |
| tr | Lowe'nin oküloserebrorenal sendromu | OCRL · Lowe hastalığı · Lowe sendromu · Lowe oküloserebrorenal distrofi · Lowe okülo-serebro-renal sendrom · Lowe okülo-serebro-renal distrofi · Fosfatidilinositol 4,5-bifosfat 5-fosfataz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 309000 | E | validated | |
| ICD-10 | E72.0 | NTBT | inclusion | validated |
| ICD-11 | 5C60.0 | E | specific | validated |
| MeSH | D009800 | E | validated | |
| UMLS | C0028860 | E | validated | |
| GARD | 3295 | E | validated | |
| MedDRA | 10051707 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (11):
- ORPHA:79166Disorder of amino acid absorption and transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:183592Genetic renal tubular disease
rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:98638Rare disease with glaucoma as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:519286Rare disorder of the pupil
rare ophthalmic disorders - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:522568Rare genetic disorder of the pupil
rare genetic diseases - ORPHA:93603Rare renal tubular disease
rare renal diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:156162Renal ciliopathy
rare genetic diseases - ORPHA:98646Renal disease with cataract
rare genetic diseases; rare ophthalmic disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| OCRL | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:8108 | ENSG00000122126 | 300535 | Xq26.1 | OCRL inositol polyphosphate-5-phosphatase | 20301653[PMID] |
5
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.2 / 100 000 | Worldwide | Value and class | Not yet validated | 16722554[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.2 / 100 000 | Europe | Value and class | Validated | 16722554[PMID]_[EXPERT] |
| Point prevalence | 1-9 / 1 000 000 | 0.2 / 100 000 | United Kingdom | Value and class | Validated | 21152085[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.
6
HPO phenotypes
120 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000615 | Abnormal pupil morphology | |
| HP:0000091 | Abnormal renal tubule morphology | |
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0001608 | Abnormality of the voice | |
| HP:0000646 | Amblyopia | |
| HP:0003355 | Aminoaciduria | |
| HP:0000739 | Anxiety | |
| HP:0002381 | Aphasia | |
| HP:0001284 | Areflexia | |
| HP:0000518 | Cataract | |
| HP:0001944 | Dehydration | |
| HP:0000716 | Depression | |
| HP:0100820 | Glomerulopathy | |
| HP:0002150 | Hypercalciuria | |
| HP:0002902 | Hyponatremia | |
| HP:0001249 | Intellectual disability | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0000639 | Nystagmus | |
| HP:0000093 | Proteinuria | |
| HP:0002049 | Proximal renal tubular acidosis | |
| HP:0000083 | Renal insufficiency | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0100530 | Abnormality of calcium-phosphate metabolism | |
| HP:0001369 | Arthritis | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0100835 | Benign neoplasm of the central nervous system | |
| HP:0000557 | Buphthalmos | |
| HP:0002169 | Clonus | |
| HP:0000722 | Compulsive behaviors | |
| HP:0002019 | Constipation | |
| HP:0000028 | Cryptorchidism | |
| HP:0000490 | Deeply set eye | |
| HP:0002353 | EEG abnormality | |
| HP:0001508 | Failure to thrive | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0002213 | Fine hair | |
| HP:0002007 | Frontal bossing | |
| HP:0000293 | Full cheeks | |
| HP:0007513 | Generalized hypopigmentation | |
| HP:0000501 | Glaucoma | |
| HP:0000843 | Hyperparathyroidism | |
| HP:0002900 | Hypokalemia | |
| HP:0001382 | Joint hypermobility | |
| HP:0001386 | Joint swelling | |
| HP:0000276 | Long face | |
| HP:0100512 | Low levels of vitamin D | |
| HP:0008069 | Neoplasm of the skin | |
| HP:0002749 | Osteomalacia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000411 | Protruding ear | |
| HP:0002757 | Recurrent fractures | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0100716 | Self-injurious behavior | |
| HP:0002209 | Sparse scalp hair | |
| HP:0001873 | Thrombocytopenia | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0000682 | Abnormality of dental enamel | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0001903 | Anemia | |
| HP:0100750 | Atelectasis | |
| HP:0000987 | Atypical scarring of skin | |
| HP:0000027 | Azoospermia | |
| HP:0000670 | Carious teeth | |
| HP:0100825 | Cheilitis | |
| HP:0007731 | Chorioretinal dysplasia | |
| HP:0000389 | Chronic otitis media | |
| HP:0007957 | Corneal opacity | |
| HP:0001522 | Death in infancy | |
| HP:0002002 | Deep philtrum | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0000823 | Delayed puberty | |
| HP:0000678 | Dental crowding | |
| HP:0000873 | Diabetes insipidus | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0005469 | Flat occiput | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002857 | Genu valgum | |
| HP:0000230 | Gingivitis | |
| HP:0000790 | Hematuria | |
| HP:0002827 | Hip dislocation | |
| HP:0003124 | Hypercholesterolemia | |
| HP:0100493 | Hypoammonemia | |
| HP:0002148 | Hypophosphatemia | |
| HP:0000859 | Increased circulating aldosterone concentration | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0000023 | Inguinal hernia | |
| HP:0001387 | Joint stiffness | |
| HP:0002808 | Kyphosis | |
| HP:0000632 | Lacrimation abnormality | |
| HP:0011527 | Lentiglobus | |
| HP:0000343 | Long philtrum | |
| HP:0002024 | Malabsorption | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000347 | Micrognathia | |
| HP:0000568 | Microphthalmia | |
| HP:0005562 | Multiple renal cysts | |
| HP:0000189 | Narrow palate | |
| HP:0000121 | Nephrocalcinosis | |
| HP:0000787 | Nephrolithiasis | |
| HP:0100612 | Odontogenic neoplasm | |
| HP:0010471 | Oligosacchariduria | |
| HP:0010807 | Open bite | |
| HP:0000194 | Open mouth | |
| HP:0002999 | Patellar dislocation | |
| HP:0000704 | Periodontitis | |
| HP:0000926 | Platyspondyly | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0200042 | Skin ulcer | |
| HP:0000486 | Strabismus | |
| HP:0000679 | Taurodontia | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0009804 | Tooth agenesis | |
| HP:0001537 | Umbilical hernia | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0100589 | Urogenital fistula | |
Run the differential on the 12 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/534
- This record as JSON: /data/d/534.json