CCHLND
MCID: CNG382
MIFTS: 28

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 72 29 13 6 70
Cchlnd 57 72
Congenital Cataract-Hearing Loss-Severe Developmental Delay Syndrome 58
Congenital Cataract-Deafness-Severe Developmental Delay Syndrome 58
Lethal Neurodegenerative Disorder Due to Copper Transport Defect 58
Cataracts, Congenital, Hearing Loss, and Neurodegeneration 39
Huppke-Brendel Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
progressive disorder
death usually in childhood


HPO:

31
congenital cataracts, hearing loss, and neurodegeneration:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


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) (Updated 20-May-2021)

MalaCards based summary : Congenital Cataracts, Hearing Loss, and Neurodegeneration, also known as cchlnd, is related to huppke-brendel syndrome and cerebellar hypoplasia. An important gene associated with Congenital Cataracts, Hearing Loss, and Neurodegeneration is SLC33A1 (Solute Carrier Family 33 Member 1). Affiliated tissues include eye, and related phenotypes are seizure and nystagmus

UniProtKB/Swiss-Prot : 72 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

Diseases related to Congenital Cataracts, Hearing Loss, and Neurodegeneration via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 huppke-brendel syndrome 11.4
2 cerebellar hypoplasia 10.4
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
4 autosomal recessive disease 10.2
5 scoliosis 10.2
6 sensorineural hearing loss 10.2
7 hypogonadism 10.2
8 cataract 10.2
9 hypotonia 10.2

Graphical network of the top 20 diseases related to Congenital Cataracts, Hearing Loss, and Neurodegeneration:



Diseases related to 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:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 seizure 31 occasional (7.5%) HP:0001250
2 nystagmus 31 HP:0000639
3 hearing impairment 31 HP:0000365
4 cataract 31 HP:0000518
5 global developmental delay 31 HP:0001263
6 absent speech 31 HP:0001344
7 cerebellar atrophy 31 HP:0001272
8 psychomotor retardation 31 HP:0025356
9 cerebral atrophy 31 HP:0002059
10 generalized hypotonia 31 HP:0001290
11 developmental cataract 31 HP:0000519
12 cns hypomyelination 31 HP:0003429
13 decreased circulating ceruloplasmin concentration 31 HP:0010837

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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:

40
Eye

Publications for Congenital Cataracts, Hearing Loss, and Neurodegeneration

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

# Title Authors PMID Year
1
Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase. 6 57
22508683 2012
2
Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. 57 6
22243965 2012
3
Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism. 6 57
15902551 2005
4
Huppke-Brendel Syndrome 61
31194315 2019
5
Classification and differential diagnosis of Wilson's disease. 61
31179300 2019
6
Huppke-Brendel syndrome in a seven months old boy with a novel 2-bp deletion in SLC33A1. 61
27306358 2016
7
Inborn errors of copper metabolism. 61
23622398 2013

Variations for Congenital Cataracts, Hearing Loss, and Neurodegeneration

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC33A1 NM_004733.4(SLC33A1):c.328G>C (p.Ala110Pro) SNV Pathogenic 30375 rs281875283 GRCh37: 3:155571459-155571459
GRCh38: 3:155853670-155853670
2 SLC33A1 SLC33A1, IVS5AS, G-A, -1 SNV Pathogenic 30376 GRCh37:
GRCh38:
3 SLC33A1 SLC33A1, 18-BP DEL, NT1474 Deletion Pathogenic 30379 GRCh37:
GRCh38:
4 SLC33A1 NM_004733.4(SLC33A1):c.1098C>G (p.Tyr366Ter) SNV Pathogenic 684758 rs1308995894 GRCh37: 3:155551696-155551696
GRCh38: 3:155833907-155833907
5 SLC33A1 NM_004733.4(SLC33A1):c.1267-1G>A SNV Pathogenic 684759 rs1577455897 GRCh37: 3:155547693-155547693
GRCh38: 3:155829904-155829904
6 SLC33A1 NM_004733.4(SLC33A1):c.1474_1482+9del Deletion Pathogenic 684760 rs1577455542 GRCh37: 3:155547468-155547485
GRCh38: 3:155829679-155829696
7 SLC33A1 NM_004733.4(SLC33A1):c.614dup (p.Leu205fs) Duplication Pathogenic 30378 rs863223316 GRCh37: 3:155571172-155571173
GRCh38: 3:155853383-155853384
8 SLC33A1 NM_004733.4(SLC33A1):c.540_541TG[1] (p.Val181fs) Microsatellite Pathogenic 684757 rs1577482029 GRCh37: 3:155571244-155571245
GRCh38: 3:155853455-155853456
9 SLC33A1 NM_004733.4(SLC33A1):c.1482+1G>T SNV Pathogenic 1032931 GRCh37: 3:155547476-155547476
GRCh38: 3:155829687-155829687

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

72
# Symbol AA change Variation ID SNP ID
1 SLC33A1 p.Ala110Pro VAR_067915 rs281875283

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....