MCID: AMR007
MIFTS: 16

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 56
Amaurosis Congenita Cone-Rod Type with Congenital Hypertrichosis 52
Amaurosis-Hypertrichosis Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
amaurosis-hypertrichosis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
amaurosis congenita, cone-rod type, with congenital hypertrichosis:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases


External Ids:

OMIM 56 204110
MESH via Orphanet 44 C536604
ICD10 via Orphanet 33 H35.5
UMLS via Orphanet 72 C1857588
Orphanet 58 ORPHA1021
MedGen 41 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. Affiliated tissues include eye, retina and skin, and related phenotypes are nystagmus and thick eyebrow

More information from OMIM: 204110

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

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

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

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
2 thick eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0000574
3 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
4 coarse hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002208
5 photophobia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000613
6 synophrys 58 31 hallmark (90%) Very frequent (99-80%) HP:0000664
7 high hypermetropia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008499
8 cone/cone-rod dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000548
9 visual impairment 31 hallmark (90%) HP:0000505
10 abnormal eyelash morphology 31 hallmark (90%) HP:0000499
11 retinal dystrophy 58 31 Very frequent (99-80%) HP:0000556
12 abnormality of the eyelashes 58 Very frequent (99-80%)
13 hirsutism 31 HP:0001007
14 congenital visual impairment 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
Hair:
synophrys
hirsutism
bushy eyebrows
trichomegaly

Neuro:
normal intelligence

Eye:
congenital visual impairment
severe retinal dystrophy
profound photophobia

Clinical features from OMIM:

204110

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:

40
Eye, Retina, Skin

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

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

# Title Authors PMID Year
1
Cone-rod congenital amaurosis associated with congenital hypertrichosis: an autosomal recessive condition. 56
2769722 1989

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

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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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