MCID: AMR007
MIFTS: 15

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
MESH via Orphanet 45 C536604
ICD10 via Orphanet 34 H35.5
UMLS via Orphanet 73 C1857588
Orphanet 59 ORPHA1021
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. Affiliated tissues include eye, skin and retina, 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:

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 cone/cone-rod dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000548
8 visual impairment 32 hallmark (90%) HP:0000505
9 abnormal eyelash morphology 32 hallmark (90%) HP:0000499
10 high hypermetropia 32 hallmark (90%) HP:0008499
11 retinal dystrophy 59 32 Very frequent (99-80%) HP:0000556
12 abnormality of the eyelashes 59 Very frequent (99-80%)
13 high-grade hypermetropia 59 Very frequent (99-80%)
14 hirsutism 32 HP:0001007
15 congenital visual impairment 59 Very frequent (99-80%)

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

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
Eye, Skin, Retina

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. 8
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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