CCHLND
MCID: CNG382
MIFTS: 24

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 58 76 30 13 6 74
Cchlnd 58 76
Congenital Cataract-Hearing Loss-Severe Developmental Delay Syndrome 60
Congenital Cataract-Deafness-Severe Developmental Delay Syndrome 60
Lethal Neurodegenerative Disorder Due to Copper Transport Defect 60
Cataracts, Congenital, Hearing Loss, and Neurodegeneration 41

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
progressive disorder
death usually in childhood


HPO:

33
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 : 58 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 seizures and nystagmus

UniProtKB/Swiss-Prot : 76 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

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

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 seizures 33 occasional (7.5%) HP:0001250
2 nystagmus 33 HP:0000639
3 hearing impairment 33 HP:0000365
4 cataract 33 HP:0000518
5 global developmental delay 33 HP:0001263
6 absent speech 33 HP:0001344
7 cerebellar atrophy 33 HP:0001272
8 generalized hypotonia 33 HP:0001290
9 cerebral atrophy 33 HP:0002059
10 decreased serum ceruloplasmin 33 HP:0010837
11 cns hypomyelination 33 HP:0003429
12 psychomotor retardation 33 HP:0025356
13 developmental cataract 33 HP:0000519

Symptoms via clinical synopsis from OMIM:

58
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

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 30 SLC33A1

Anatomical Context for Congenital Cataracts, Hearing Loss, and Neurodegeneration

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

42
Brain, Eye

Publications for Congenital Cataracts, Hearing Loss, and Neurodegeneration

Articles related to Congenital Cataracts, Hearing Loss, and Neurodegeneration:

# Title Authors Year
1
Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. ( 22243965 )
2012
2
Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase. ( 22508683 )
2012
3
Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism. ( 15902551 )
2005

Variations for Congenital Cataracts, Hearing Loss, and Neurodegeneration

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

76
# 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....