MCID: APL028
MIFTS: 18

Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction

Categories: Eye diseases, Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction

MalaCards integrated aliases for Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction:

Name: Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 58
Gershoni-Baruch-Leibo Syndrome 60
Aplasia Cutis-Myopia Syndrome 60

Characteristics:

Orphanet epidemiological data:

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

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
aplasia cutis congenita, high myopia, and cone-rod dysfunction:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 601075
ICD10 via Orphanet 35 Q84.8
UMLS via Orphanet 75 C1832826
Orphanet 60 ORPHA1117
MedGen 43 C1832826

Summaries for Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction

MalaCards based summary : Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction, also known as gershoni-baruch-leibo syndrome, is related to autosomal recessive disease and myopia. Affiliated tissues include skin and eye, and related phenotypes are abnormality of retinal pigmentation and aplasia cutis congenita

Description from OMIM: 601075

Related Diseases for Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction

Diseases related to Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal recessive disease 10.5
2 myopia 10.5
3 aplasia cutis congenita 10.5

Symptoms & Phenotypes for Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction

Human phenotypes related to Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction:

60 33 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of retinal pigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007703
2 aplasia cutis congenita 60 33 hallmark (90%) Very frequent (99-80%) HP:0001057
3 congenital nystagmus 60 33 hallmark (90%) Very frequent (99-80%) HP:0006934
4 high myopia 33 hallmark (90%) HP:0011003
5 calvarial skull defect 33 hallmark (90%) HP:0001362
6 abnormal bleeding 60 33 occasional (7.5%) Occasional (29-5%) HP:0001892
7 skin ulcer 60 33 occasional (7.5%) Occasional (29-5%) HP:0200042
8 meningitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001287
9 abnormality of coagulation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001928
10 abnormality of nervous system morphology 60 Occasional (29-5%)
11 abnormality of the skeletal system 60 Occasional (29-5%)
12 skull defect 60 Very frequent (99-80%)
13 severe myopia 60 Very frequent (99-80%)
14 aplasia cutis congenita of midline scalp vertex 33 HP:0007536

Symptoms via clinical synopsis from OMIM:

58
Eyes:
congenital nystagmus
high myopia
cone-rod dysfunction

Skin:
aplasia cutis congenita of midline scalp vertex

Clinical features from OMIM:

601075

Drugs & Therapeutics for Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction

Search Clinical Trials , NIH Clinical Center for Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction

Genetic Tests for Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction

Anatomical Context for Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction

MalaCards organs/tissues related to Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction:

42
Skin, Eye

Publications for Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction

Articles related to Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction:

# Title Authors Year
1
Aplasia cutis congenita, high myopia, and cone-rod dysfunction in two sibs: a new autosomal recessive disorder. ( 8741916 )
1996

Variations for Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction

Expression for Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction

Search GEO for disease gene expression data for Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction.

Pathways for Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction

GO Terms for Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction

Sources for Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction

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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