ORPHA:649

Norrie disease

Synonyms: Atrophia bulborum hereditaria · Episkopi blindness · Norrie-Warburg disease

Type: Malformation syndrome
Group: Disorder
Inheritance: X-linked recessive
Age of onset: Antenatal, Neonatal
Status: active

A rare developmental defect during embryogenesis characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Norrie disease	Atrophia bulborum hereditaria · Episkopi blindness · Norrie-Warburg disease
fr	Maladie de Norrie	Cécité d'Episkopi · Maladie de Norrie-Warburg
de	Norrie-Syndrom	Atrophia bulborum hereditaria · Blindheit, episkopische · Norrie-Warburg-Krankheit
es	Enfermedad de Norrie	Atrofia bulborum hereditaria · Ceguera de Episkopi · Enfermedad de Norrie-Warburg
it	Malattia di Norrie	Atrofia bulbare ereditaria · Cecità di Episkopi · Malattia di Norrie-Warburg
nl	Ziekte van Norrie	Atrophia bulborum hereditaria · Episkopi blindheid · Ziekte van Norrie-Warburg
pt	Doença de Norrie	Pseudoglioma
pl	Choroba Norrie'go	Choroba Norriego i Warburga · Dziedziczna atrofia opuszkowa · Ślepota Episkopi
cs	Norrieho choroba	Atrophia bulborum hereditaria · Episkopiská slepota · Norrieho-Warburgův syndrom · Norrie-Warburgův syndrom · Slepota z Episkopi
uk	Хвороба Норрі	Спадкова атрофія бульбочок · Епіскопічна сліпота · Хвороба Норрі-Варбурга
zh	诺里病	胎儿虹膜炎综合征
tr	Norrie hastalığı	Episkopi körlüğü · Norrie-Warburg hastalığı · Atrophia bulborum hereditaria

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	310600	BTNT		validated
OMIM	312550	BTNT		validated
ICD-10	H35.5	NTBT	attributed	validated
ICD-11	LD21.Y	NTBT	index	validated
MONDO	0010691	E		validated
MeSH	C537849	E		validated
UMLS	C0266526	E		validated
GARD	7224	E		validated
MedDRA	10069760	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):

ORPHA:93890Rare developmental defect during embryogenesis

Parents in the classifications (6):

ORPHA:716459Rare disorder with progressive retinal vasculopathy as a major feature
rare ophthalmic disorders
ORPHA:717348Rare genetic disorder with progressive retinal vasculopathy as a major feature
rare genetic diseases
ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological 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.

Codes that Orphanet moved or referred to this one:

ORPHA:1852OBSOLETE: X-linked retinal dysplasia referred to · inactive

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
NDP	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:7678	ENSG00000124479	300658	Xp11.3	norrin cystine knot growth factor NDP	9228243[PMID]_20301506[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		400 cases	Worldwide	Case(s)	Validated	16052165[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

64 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0008046	Abnormal retinal vascular morphology
HP:0007833	Anterior chamber synechiae
HP:0000618	Blindness
HP:0000518	Cataract
HP:0000532	Chorioretinal abnormality
HP:0007957	Corneal opacity
HP:0000490	Deeply set eye
HP:0007676	Hypoplasia of the iris
HP:0000601	Hypotelorism
HP:0000400	Macrotia
HP:0000568	Microphthalmia
HP:0000446	Narrow nasal bridge
HP:0100012	Neoplasm of the eye
HP:0000647	Sclerocornea
HP:0100742	Vascular neoplasm
Frequent (79-30%)
HP:0000375	Abnormal cochlea morphology
HP:0000733	Abnormal repetitive mannerisms
HP:0004327	Abnormal vitreous humor morphology
HP:0000739	Anxiety
HP:0008063	Aplasia/Hypoplasia of the lens
HP:0100639	Erectile dysfunction
HP:0006887	Intellectual disability, progressive
HP:0000737	Irritability
HP:0000639	Nystagmus
HP:0000709	Psychosis
HP:0007968	Remnants of the hyaloid vascular system
HP:0000541	Retinal detachment
HP:0005293	Venous insufficiency
Occasional (29-5%)
HP:0011039	Abnormal helix morphology
HP:0000615	Abnormal pupil morphology
HP:0010978	Abnormality of immune system physiology
HP:0010662	Abnormality of the diencephalon
HP:0007360	Aplasia/Hypoplasia of the cerebellum
HP:0007018	Attention deficit hyperactivity disorder
HP:0000708	Atypical behavior
HP:0000717	Autism
HP:0004326	Cachexia
HP:0002120	Cerebral cortical atrophy
HP:0002169	Clonus
HP:0000028	Cryptorchidism
HP:0000823	Delayed puberty
HP:0002376	Developmental regression
HP:0000819	Diabetes mellitus
HP:0002353	EEG abnormality
HP:0001083	Ectopia lentis
HP:0001508	Failure to thrive
HP:0000501	Glaucoma
HP:0000738	Hallucinations
HP:0001347	Hyperreflexia
HP:0001276	Hypertonia
HP:0001252	Hypotonia
HP:0000272	Malar flattening
HP:0000252	Microcephaly
HP:0002076	Migraine
HP:0001324	Muscle weakness
HP:0000648	Optic atrophy
HP:0000411	Protruding ear
HP:0002650	Scoliosis
HP:0001250	Seizure
HP:0100716	Self-injurious behavior
HP:0000407	Sensorineural hearing impairment
HP:0002360	Sleep abnormality
HP:0000233	Thin vermilion border
HP:0100718	Uterine rupture

Run the differential on the 12 obligate / very frequent terms

Sources for this card

Orphanet page: orpha.net/en/disease/detail/649
This record as JSON: /data/d/649.json