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 58
Amaurosis Congenita Cone-Rod Type with Congenital Hypertrichosis 54
Amaurosis-Hypertrichosis Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
amaurosis-hypertrichosis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
amaurosis congenita, cone-rod type, with congenital hypertrichosis:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 204110
MESH via Orphanet 46 C536604
ICD10 via Orphanet 35 H35.5
UMLS via Orphanet 75 C1857588
Orphanet 60 ORPHA1021
MedGen 43 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 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...

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

60 33 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000639
2 thick eyebrow 60 33 hallmark (90%) Very frequent (99-80%) HP:0000574
3 optic atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000648
4 coarse hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002208
5 photophobia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000613
6 synophrys 60 33 hallmark (90%) Very frequent (99-80%) HP:0000664
7 cone/cone-rod dystrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000548
8 visual impairment 33 hallmark (90%) HP:0000505
9 high hypermetropia 33 hallmark (90%) HP:0008499
10 abnormal eyelash morphology 33 hallmark (90%) HP:0000499
11 retinal dystrophy 60 33 Very frequent (99-80%) HP:0000556
12 abnormality of the eyelashes 60 Very frequent (99-80%)
13 high-grade hypermetropia 60 Very frequent (99-80%)
14 hirsutism 33 HP:0001007
15 congenital visual impairment 60 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

58
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:

42
Skin, Eye

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

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
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
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