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 56
Gershoni-Baruch-Leibo Syndrome 58
Aplasia Cutis-Myopia Syndrome 58

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
aplasia cutis congenita, high myopia, and cone-rod dysfunction:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 601075
ICD10 via Orphanet 33 Q84.8
UMLS via Orphanet 72 C1832826
Orphanet 58 ORPHA1117
MedGen 41 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 aplasia cutis congenita, nonsyndromic and autosomal recessive disease. Affiliated tissues include skin and eye, and related phenotypes are abnormality of retinal pigmentation and high myopia

More information 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 aplasia cutis congenita, nonsyndromic 10.5
2 autosomal recessive disease 10.5
3 myopia 10.5
4 congenital nystagmus 10.5
5 pathologic nystagmus 10.5

Graphical network of the top 20 diseases related to Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction:



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

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:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of retinal pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007703
2 high myopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011003
3 aplasia cutis congenita 58 31 hallmark (90%) Very frequent (99-80%) HP:0001057
4 congenital nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0006934
5 calvarial skull defect 31 hallmark (90%) HP:0001362
6 abnormal bleeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0001892
7 skin ulcer 58 31 occasional (7.5%) Occasional (29-5%) HP:0200042
8 meningitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001287
9 abnormality of coagulation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001928
10 abnormality of nervous system morphology 58 Occasional (29-5%)
11 abnormality of the skeletal system 58 Occasional (29-5%)
12 skull defect 58 Very frequent (99-80%)
13 aplasia cutis congenita of midline scalp vertex 31 HP:0007536

Symptoms via clinical synopsis from OMIM:

56
Eyes:
high myopia
congenital nystagmus
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:

40
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 PMID Year
1
Aplasia cutis congenita, high myopia, and cone-rod dysfunction in two sibs: a new autosomal recessive disorder. 56 61
8741916 1996
2
Aplasia cutis congenita presenting as a familial triad of atrophic alopecia, ocular defects and a peculiar scarring tendency of the skin. 56
3395567 1988

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
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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