Ceroid Lipofuscinosis, Neuronal, 7 (CLN7)

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Disease Ontology 12 DOID:0110722 OMIM® 57 610951 OMIM Phenotypic Series 57 PS256730 MeSH 44 D009472 ICD10 32 E75.4 ICD10 via Orphanet 33 E75.4

UMLS via Orphanet 72 C1838571 Orphanet 58 ORPHA228366 MedGen 41 C1838571 SNOMED-CT via HPO 68 162294008 192992007 224958001 229721007 258211005 267581004 274521009 278849000 28835009 29164008 29555009 37356005 418143002 52522001 53888004 62415009 65956007 76976005 7973008 85102008 95646004 more UMLS 71 C1838571

MedlinePlus Genetics : ⁴³ CLN7 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin between ages 2 and 7. The initial features usually include recurrent seizures (epilepsy) and the loss of previously acquired skills (developmental regression). Affected children also develop problems with movement that might seem like clumsiness, including muscle twitches (myoclonus) and difficulty coordinating movements (ataxia). Additional features of CLN7 disease are speech impairment and vision loss. Mental functioning and motor skills (such as sitting and walking) decline with age. Individuals with CLN7 disease typically do not survive past their teens.CLN7 disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which may also be collectively referred to as Batten disease. All these disorders affect the nervous system and typically cause worsening problems with vision, movement, and thinking ability. The different NCLs are distinguished by their genetic cause. Each disease type is given the designation "CLN," meaning ceroid lipofuscinosis, neuronal, and then a number to indicate its subtype.

MalaCards based summary : Ceroid Lipofuscinosis, Neuronal, 7, also known as neuronal ceroid lipofuscinosis 7, is related to ceroid lipofuscinosis, neuronal, 6 and ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant, and has symptoms including ataxia and myoclonic seizures. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 7 is MFSD8 (Major Facilitator Superfamily Domain Containing 8), and among its related pathways/superpathways is Lysosome. Affiliated tissues include eye, and related phenotypes are eeg abnormality and sleep disturbance

Disease Ontology : ¹² A neuronal ceroid lipofuscinosis that is characterized by late-infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and has material basis in homozygous or compound heterozygous mutation in the MFSD8 gene on chromosome 4q28.

GARD : ²⁰ Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.

OMIM® : ⁵⁷ The neuronal ceroid lipofuscinoses (NCL, or CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally (summary by Mole et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730). (610951) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : ⁷³ Ceroid lipofuscinosis, neuronal, 7: A form of neuronal ceroid lipofuscinosis with onset in early childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 7 comprise mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles.

Clinical features from OMIM®:

610951 (Updated 05-Mar-2021)

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