MCID: AMR007
MIFTS: 18

Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis

Categories: Eye diseases, Rare diseases, Skin diseases

Aliases & Classifications for Amaurosis Congenita, Cone-Rod Type, with Congenital...

MalaCards integrated aliases for Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis:

Name: Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis 57
Amaurosis Congenita Cone-Rod Type with Congenital Hypertrichosis 53
Amaurosis-Hypertrichosis Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
amaurosis-hypertrichosis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
amaurosis congenita, cone-rod type, with congenital hypertrichosis:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 204110
Orphanet 59 ORPHA1021
MESH via Orphanet 45 C536604
UMLS via Orphanet 74 C1857588
ICD10 via Orphanet 34 H35.5
MedGen 42 C1857588

Summaries for Amaurosis Congenita, Cone-Rod Type, with Congenital...

MalaCards based summary : Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis, is also known as amaurosis congenita cone-rod type with congenital hypertrichosis. An important gene associated with Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis is CNNM4 (Cyclin And CBS Domain Divalent Metal Cation Transport Mediator 4). Affiliated tissues include skin and eye, and related phenotypes are nystagmus and thick eyebrow

Description from OMIM: 204110

Related Diseases for Amaurosis Congenita, Cone-Rod Type, with Congenital...

Symptoms & Phenotypes for Amaurosis Congenita, Cone-Rod Type, with Congenital...

Symptoms via clinical synopsis from OMIM:

57
Hair:
synophrys
hirsutism
bushy eyebrows
trichomegaly

Neuro:
normal intelligence

Eye:
congenital visual impairment
severe retinal dystrophy
profound photophobia


Clinical features from OMIM:

204110

Human phenotypes related to Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
2 thick eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0000574
3 optic atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000648
4 coarse hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002208
5 photophobia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000613
6 synophrys 59 32 hallmark (90%) Very frequent (99-80%) HP:0000664
7 retinal dystrophy 59 32 Very frequent (99-80%) HP:0000556
8 cone/cone-rod dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000548
9 visual impairment 32 hallmark (90%) HP:0000505
10 abnormality of the eyelashes 59 Very frequent (99-80%)
11 high-grade hypermetropia 59 Very frequent (99-80%)
12 hirsutism 32 HP:0001007
13 congenital visual impairment 59 Very frequent (99-80%)
14 high hypermetropia 32 hallmark (90%) HP:0008499
15 abnormal eyelash morphology 32 hallmark (90%) HP:0000499

Drugs & Therapeutics for Amaurosis Congenita, Cone-Rod Type, with Congenital...

Search Clinical Trials , NIH Clinical Center for Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis

Genetic Tests for Amaurosis Congenita, Cone-Rod Type, with Congenital...

Anatomical Context for Amaurosis Congenita, Cone-Rod Type, with Congenital...

MalaCards organs/tissues related to Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis:

41
Skin, Eye

Publications for Amaurosis Congenita, Cone-Rod Type, with Congenital...

Variations for Amaurosis Congenita, Cone-Rod Type, with Congenital...

ClinVar genetic disease variations for Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis:

6 (show top 50) (show all 118)
# Gene Variation Type Significance SNP ID Assembly Location
1 CNNM4 CNNM4, 1-BP DUP, 1312C duplication Pathogenic
2 CNNM4 NM_020184.3(CNNM4): c.707G> A (p.Arg236Gln) single nucleotide variant Pathogenic rs75267011 GRCh37 Chromosome 2, 97427443: 97427443
3 CNNM4 NM_020184.3(CNNM4): c.707G> A (p.Arg236Gln) single nucleotide variant Pathogenic rs75267011 GRCh38 Chromosome 2, 96761706: 96761706
4 CNNM4 NM_020184.3(CNNM4): c.971T> C (p.Leu324Pro) single nucleotide variant Pathogenic rs74552543 GRCh37 Chromosome 2, 97427707: 97427707
5 CNNM4 NM_020184.3(CNNM4): c.971T> C (p.Leu324Pro) single nucleotide variant Pathogenic rs74552543 GRCh38 Chromosome 2, 96761970: 96761970
6 CNNM4 NM_020184.3(CNNM4): c.1690C> T (p.Gln564Ter) single nucleotide variant Pathogenic rs80100937 GRCh37 Chromosome 2, 97464802: 97464802
7 CNNM4 NM_020184.3(CNNM4): c.1690C> T (p.Gln564Ter) single nucleotide variant Pathogenic rs80100937 GRCh38 Chromosome 2, 96799065: 96799065
8 CNNM4 NM_020184.3(CNNM4): c.599C> A (p.Ser200Tyr) single nucleotide variant Pathogenic rs79424354 GRCh37 Chromosome 2, 97427335: 97427335
9 CNNM4 NM_020184.3(CNNM4): c.599C> A (p.Ser200Tyr) single nucleotide variant Pathogenic rs79424354 GRCh38 Chromosome 2, 96761598: 96761598
10 CNNM4 NM_020184.3(CNNM4): c.2149C> T (p.Gln717Ter) single nucleotide variant Pathogenic rs75559353 GRCh37 Chromosome 2, 97475075: 97475075
11 CNNM4 NM_020184.3(CNNM4): c.2149C> T (p.Gln717Ter) single nucleotide variant Pathogenic rs75559353 GRCh38 Chromosome 2, 96809338: 96809338
12 CNNM4 CNNM4, 83-BP DEL, NT62 deletion Pathogenic
13 CNNM4 NM_020184.3(CNNM4): c.399G> A (p.Val133=) single nucleotide variant Conflicting interpretations of pathogenicity rs34147094 GRCh37 Chromosome 2, 97427135: 97427135
14 CNNM4 NM_020184.3(CNNM4): c.399G> A (p.Val133=) single nucleotide variant Conflicting interpretations of pathogenicity rs34147094 GRCh38 Chromosome 2, 96761398: 96761398
15 CNNM4 NM_020184.3(CNNM4): c.-14A> C single nucleotide variant Uncertain significance rs545205153 GRCh37 Chromosome 2, 97426723: 97426723
16 CNNM4 NM_020184.3(CNNM4): c.-14A> C single nucleotide variant Uncertain significance rs545205153 GRCh38 Chromosome 2, 96760986: 96760986
17 CNNM4 NM_020184.3(CNNM4): c.2130+5G> A single nucleotide variant Uncertain significance rs200517269 GRCh37 Chromosome 2, 97474484: 97474484
18 CNNM4 NM_020184.3(CNNM4): c.2130+5G> A single nucleotide variant Uncertain significance rs200517269 GRCh38 Chromosome 2, 96808747: 96808747
19 CNNM4 NM_020184.3(CNNM4): c.1682-1G> C single nucleotide variant Pathogenic rs879255500 GRCh37 Chromosome 2, 97464793: 97464793
20 CNNM4 NM_020184.3(CNNM4): c.1682-1G> C single nucleotide variant Pathogenic rs879255500 GRCh38 Chromosome 2, 96799056: 96799056
21 CNNM4 NM_020184.3(CNNM4): c.1947C> T (p.Ser649=) single nucleotide variant Conflicting interpretations of pathogenicity rs41286594 GRCh37 Chromosome 2, 97465384: 97465384
22 CNNM4 NM_020184.3(CNNM4): c.1947C> T (p.Ser649=) single nucleotide variant Conflicting interpretations of pathogenicity rs41286594 GRCh38 Chromosome 2, 96799647: 96799647
23 CNNM4 NM_020184.3(CNNM4): c.91T> C (p.Trp31Arg) single nucleotide variant Uncertain significance rs760633483 GRCh37 Chromosome 2, 97426827: 97426827
24 CNNM4 NM_020184.3(CNNM4): c.91T> C (p.Trp31Arg) single nucleotide variant Uncertain significance rs760633483 GRCh38 Chromosome 2, 96761090: 96761090
25 CNNM4 NM_020184.3(CNNM4): c.61C> G (p.Leu21Val) single nucleotide variant Uncertain significance rs886056471 GRCh38 Chromosome 2, 96761060: 96761060
26 CNNM4 NM_020184.3(CNNM4): c.61C> G (p.Leu21Val) single nucleotide variant Uncertain significance rs886056471 GRCh37 Chromosome 2, 97426797: 97426797
27 CNNM4 NM_020184.3(CNNM4): c.788A> G (p.Asn263Ser) single nucleotide variant Uncertain significance rs150269409 GRCh37 Chromosome 2, 97427524: 97427524
28 CNNM4 NM_020184.3(CNNM4): c.788A> G (p.Asn263Ser) single nucleotide variant Uncertain significance rs150269409 GRCh38 Chromosome 2, 96761787: 96761787
29 CNNM4 NM_020184.3(CNNM4): c.1942C> T (p.Pro648Ser) single nucleotide variant Uncertain significance rs144495984 GRCh37 Chromosome 2, 97465379: 97465379
30 CNNM4 NM_020184.3(CNNM4): c.1942C> T (p.Pro648Ser) single nucleotide variant Uncertain significance rs144495984 GRCh38 Chromosome 2, 96799642: 96799642
31 CNNM4 NM_020184.3(CNNM4): c.*91C> T single nucleotide variant Benign rs7581456 GRCh37 Chromosome 2, 97475345: 97475345
32 CNNM4 NM_020184.3(CNNM4): c.*91C> T single nucleotide variant Benign rs7581456 GRCh38 Chromosome 2, 96809608: 96809608
33 CNNM4 NM_020184.3(CNNM4): c.*95T> C single nucleotide variant Uncertain significance rs138947618 GRCh37 Chromosome 2, 97475349: 97475349
34 CNNM4 NM_020184.3(CNNM4): c.*95T> C single nucleotide variant Uncertain significance rs138947618 GRCh38 Chromosome 2, 96809612: 96809612
35 CNNM4 NM_020184.3(CNNM4): c.*477_*479delTCC deletion Likely benign rs886056477 GRCh37 Chromosome 2, 97475731: 97475733
36 CNNM4 NM_020184.3(CNNM4): c.*477_*479delTCC deletion Likely benign rs886056477 GRCh38 Chromosome 2, 96809994: 96809996
37 CNNM4 NM_020184.3(CNNM4): c.*924G> A single nucleotide variant Uncertain significance rs886056479 GRCh37 Chromosome 2, 97476178: 97476178
38 CNNM4 NM_020184.3(CNNM4): c.*924G> A single nucleotide variant Uncertain significance rs886056479 GRCh38 Chromosome 2, 96810441: 96810441
39 CNNM4 NM_020184.3(CNNM4): c.*1056C> T single nucleotide variant Uncertain significance rs183039738 GRCh37 Chromosome 2, 97476310: 97476310
40 CNNM4 NM_020184.3(CNNM4): c.*1056C> T single nucleotide variant Uncertain significance rs183039738 GRCh38 Chromosome 2, 96810573: 96810573
41 CNNM4 NM_020184.3(CNNM4): c.*1158C> T single nucleotide variant Uncertain significance rs760774484 GRCh38 Chromosome 2, 96810675: 96810675
42 CNNM4 NM_020184.3(CNNM4): c.*1158C> T single nucleotide variant Uncertain significance rs760774484 GRCh37 Chromosome 2, 97476412: 97476412
43 CNNM4 NM_020184.3(CNNM4): c.*1517G> A single nucleotide variant Uncertain significance rs538345373 GRCh38 Chromosome 2, 96811034: 96811034
44 CNNM4 NM_020184.3(CNNM4): c.*1517G> A single nucleotide variant Uncertain significance rs538345373 GRCh37 Chromosome 2, 97476771: 97476771
45 CNNM4 NM_020184.3(CNNM4): c.*1565C> T single nucleotide variant Uncertain significance rs886056481 GRCh38 Chromosome 2, 96811082: 96811082
46 CNNM4 NM_020184.3(CNNM4): c.*1565C> T single nucleotide variant Uncertain significance rs886056481 GRCh37 Chromosome 2, 97476819: 97476819
47 CNNM4 NM_020184.3(CNNM4): c.*1937G> A single nucleotide variant Uncertain significance rs886056483 GRCh38 Chromosome 2, 96811454: 96811454
48 CNNM4 NM_020184.3(CNNM4): c.*1937G> A single nucleotide variant Uncertain significance rs886056483 GRCh37 Chromosome 2, 97477191: 97477191
49 CNNM4 NM_020184.3(CNNM4): c.*1974C> T single nucleotide variant Uncertain significance rs538676167 GRCh38 Chromosome 2, 96811491: 96811491
50 CNNM4 NM_020184.3(CNNM4): c.*1974C> T single nucleotide variant Uncertain significance rs538676167 GRCh37 Chromosome 2, 97477228: 97477228

Expression for Amaurosis Congenita, Cone-Rod Type, with Congenital...

Search GEO for disease gene expression data for Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis.

Pathways for Amaurosis Congenita, Cone-Rod Type, with Congenital...

GO Terms for Amaurosis Congenita, Cone-Rod Type, with Congenital...

Sources for Amaurosis Congenita, Cone-Rod Type, with Congenital...

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10 dbSNP
11 DGIdb
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31 HMDB
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58 OMIM via Orphanet
62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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