Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
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Preferred Name

Infantile nephropathic cystinosis
Synonyms
Definitions

A subtype of cystinosis characterized by an accumulation of cystine in the organs and tissues, particularly in the kidneys and eyes, and that clinically manifests from infancy with renal Fanconi syndrome, photophobia, hypothyroidism, impaired growth and rickets, in addition to various other systemic effects. Progressive extra-renal manifestations include hypothyroidism, hypogonadism and male infertility, insulin-dependent diabetes, hepatosplenomegaly with portal hypertension, muscle involvement with distal muscle weakness and atrophy, pharyngeal and oral dysfunction, swallowing difficulties, cerebral involvement with hypotonia, speech and walking difficulties, and cerebellar syndrome.
ID

http://www.orpha.net/ORDO/Orphanet_411629
definition

A subtype of cystinosis characterized by an accumulation of cystine in the organs and tissues, particularly in the kidneys and eyes, and that clinically manifests from infancy with renal Fanconi syndrome, photophobia, hypothyroidism, impaired growth and rickets, in addition to various other systemic effects. Progressive extra-renal manifestations include hypothyroidism, hypogonadism and male infertility, insulin-dependent diabetes, hepatosplenomegaly with portal hypertension, muscle involvement with distal muscle weakness and atrophy, pharyngeal and oral dysfunction, swallowing difficulties, cerebral involvement with hypotonia, speech and walking difficulties, and cerebellar syndrome.
definition_citation

Orphanet
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=411629
has_age_of_onset

Infancy
has_inheritance

Autosomal recessive
hasDbXref

OMIM:219800

ICD-10:N16.3*

UMLS:C3537440

MeSH:C565655

ICD-10:E72.0+

ICD-11:5C60.1
label

Infantile nephropathic cystinosis
notation

ORPHA:411629

Clinical subtype
part_of

http://www.orpha.net/ORDO/Orphanet_506213

http://www.orpha.net/ORDO/Orphanet_93593

http://www.orpha.net/ORDO/Orphanet_213
prefixIRI

ORDO:Orphanet_411629
prefLabel

Infantile nephropathic cystinosis
present_in

Europe AND has_birth_prevalence_range : 1-9 / 1 000 000

Worldwide AND has_point_prevalence_range : Unknown
treeView

http://www.orpha.net/ORDO/Orphanet_506213

http://www.orpha.net/ORDO/Orphanet_93593

http://www.orpha.net/ORDO/Orphanet_213
subClassOf

http://www.orpha.net/ORDO/Orphanet_557494
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