CCHLND
MCID: CNG382
MIFTS: 22

Congenital Cataracts, Hearing Loss, and Neurodegeneration (CCHLND)

Categories: Ear diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Congenital Cataracts, Hearing Loss, and Neurodegeneration

MalaCards integrated aliases for Congenital Cataracts, Hearing Loss, and Neurodegeneration:

Name: Congenital Cataracts, Hearing Loss, and Neurodegeneration 57 75 29 13 6 73
Cchlnd 57 75
Congenital Cataract-Hearing Loss-Severe Developmental Delay Syndrome 59
Congenital Cataract-Deafness-Severe Developmental Delay Syndrome 59
Lethal Neurodegenerative Disorder Due to Copper Transport Defect 59
Cataracts, Congenital, Hearing Loss, and Neurodegeneration 40

Characteristics:

Orphanet epidemiological data:

59
congenital cataract-hearing loss-severe developmental delay syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
progressive disorder
death usually in childhood


HPO:

32
congenital cataracts, hearing loss, and neurodegeneration:
Onset and clinical course infantile onset progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Cataracts, Hearing Loss, and Neurodegeneration

OMIM : 57 Congenital cataracts, hearing loss, and neurodegeneration (CCHLND) is an autosomal recessive disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with decreased serum ceruloplasmin and copper. Brain MRI shows cerebral and cerebellar atrophy and hypomyelination (summary by Huppke et al., 2012). (614482)

MalaCards based summary : Congenital Cataracts, Hearing Loss, and Neurodegeneration, is also known as cchlnd. An important gene associated with Congenital Cataracts, Hearing Loss, and Neurodegeneration is SLC33A1 (Solute Carrier Family 33 Member 1). Affiliated tissues include brain and eye, and related phenotypes are nystagmus and seizures

UniProtKB/Swiss-Prot : 75 Congenital cataracts, hearing loss, and neurodegeneration: An autosomal recessive disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with decreased serum ceruloplasmin and copper. Brain MRI shows cerebral and cerebellar atrophy and hypomyelination.

Related Diseases for Congenital Cataracts, Hearing Loss, and Neurodegeneration

Symptoms & Phenotypes for Congenital Cataracts, Hearing Loss, and Neurodegeneration

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
cataracts, congenital

Laboratory Abnormalities:
decreased serum ceruloplasmin
decreased serum copper

Head And Neck Ears:
hearing loss

Neurologic Central Nervous System:
cerebellar atrophy
cerebral atrophy
hypomyelination
psychomotor retardation, severe
lack of speech
more
Muscle Soft Tissue:
hypotonia


Clinical features from OMIM:

614482

Human phenotypes related to Congenital Cataracts, Hearing Loss, and Neurodegeneration:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 seizures 32 occasional (7.5%) HP:0001250
3 hearing impairment 32 HP:0000365
4 cataract 32 HP:0000518
5 global developmental delay 32 HP:0001263
6 absent speech 32 HP:0001344
7 cerebellar atrophy 32 HP:0001272
8 generalized hypotonia 32 HP:0001290
9 cerebral atrophy 32 HP:0002059
10 decreased serum ceruloplasmin 32 HP:0010837
11 cns hypomyelination 32 HP:0003429
12 congenital cataract 32 HP:0000519

Drugs & Therapeutics for Congenital Cataracts, Hearing Loss, and Neurodegeneration

Search Clinical Trials , NIH Clinical Center for Congenital Cataracts, Hearing Loss, and Neurodegeneration

Genetic Tests for Congenital Cataracts, Hearing Loss, and Neurodegeneration

Genetic tests related to Congenital Cataracts, Hearing Loss, and Neurodegeneration:

# Genetic test Affiliating Genes
1 Congenital Cataracts, Hearing Loss, and Neurodegeneration 29 SLC33A1

Anatomical Context for Congenital Cataracts, Hearing Loss, and Neurodegeneration

MalaCards organs/tissues related to Congenital Cataracts, Hearing Loss, and Neurodegeneration:

41
Brain, Eye

Publications for Congenital Cataracts, Hearing Loss, and Neurodegeneration

Variations for Congenital Cataracts, Hearing Loss, and Neurodegeneration

UniProtKB/Swiss-Prot genetic disease variations for Congenital Cataracts, Hearing Loss, and Neurodegeneration:

75
# Symbol AA change Variation ID SNP ID
1 SLC33A1 p.Ala110Pro VAR_067915 rs281875283

ClinVar genetic disease variations for Congenital Cataracts, Hearing Loss, and Neurodegeneration:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC33A1 NM_004733.3(SLC33A1): c.328G> C (p.Ala110Pro) single nucleotide variant Pathogenic rs281875283 GRCh37 Chromosome 3, 155571459: 155571459
2 SLC33A1 NM_004733.3(SLC33A1): c.328G> C (p.Ala110Pro) single nucleotide variant Pathogenic rs281875283 GRCh38 Chromosome 3, 155853670: 155853670
3 SLC33A1 SLC33A1, IVS5AS, G-A, -1 single nucleotide variant Pathogenic
4 SLC33A1 SLC33A1, TYR366TER single nucleotide variant Pathogenic
5 SLC33A1 NM_004733.3(SLC33A1): c.614dupT (p.Leu205Phefs) duplication Pathogenic rs863223316 GRCh37 Chromosome 3, 155571173: 155571173
6 SLC33A1 NM_004733.3(SLC33A1): c.614dupT (p.Leu205Phefs) duplication Pathogenic rs863223316 GRCh38 Chromosome 3, 155853384: 155853384
7 SLC33A1 SLC33A1, 18-BP DEL, NT1474 deletion Pathogenic

Expression for Congenital Cataracts, Hearing Loss, and Neurodegeneration

Search GEO for disease gene expression data for Congenital Cataracts, Hearing Loss, and Neurodegeneration.

Pathways for Congenital Cataracts, Hearing Loss, and Neurodegeneration

GO Terms for Congenital Cataracts, Hearing Loss, and Neurodegeneration

Sources for Congenital Cataracts, Hearing Loss, and Neurodegeneration

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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