MCID: APL009
MIFTS: 8

Aplasia Cutis Congenita of Limbs Recessive

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Aplasia Cutis Congenita of Limbs Recessive

MalaCards integrated aliases for Aplasia Cutis Congenita of Limbs Recessive:

Name: Aplasia Cutis Congenita of Limbs Recessive 53
Congenital Absence of Skin on the Upper or Lower Limbs 53
Recessive Aplasia Cutis Congenita of the Limbs 53

Classifications:



Summaries for Aplasia Cutis Congenita of Limbs Recessive

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1115Disease definitionRecessive aplasia cutis congenita of limbs is an extremely rare variant of aplasia cutis congenita (ACC; see this term) characterized by the congenital absence of skin on the upper and/or lower limbs, with these lesions usually healing spontaneously resulting in a hypotrichotic scar. Recessive ACC of limbs may be associated with junctional epidermolysis bullosa (see this term). The inheritance was hypothesized to be autosomal recessive. There have been no further descriptions in the literature since 1980.Visit the Orphanet disease page for more resources.

MalaCards based summary : Aplasia Cutis Congenita of Limbs Recessive, also known as congenital absence of skin on the upper or lower limbs, is related to aplasia cutis congenita. Affiliated tissues include skin.

Related Diseases for Aplasia Cutis Congenita of Limbs Recessive

Diseases in the Aplasia Cutis Congenita of Limbs Recessive family:

Aplasia Cutis Congenita of Limbs, Autosomal Recessive

Diseases related to Aplasia Cutis Congenita of Limbs Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 aplasia cutis congenita 10.2

Symptoms & Phenotypes for Aplasia Cutis Congenita of Limbs Recessive

Drugs & Therapeutics for Aplasia Cutis Congenita of Limbs Recessive

Search Clinical Trials , NIH Clinical Center for Aplasia Cutis Congenita of Limbs Recessive

Genetic Tests for Aplasia Cutis Congenita of Limbs Recessive

Anatomical Context for Aplasia Cutis Congenita of Limbs Recessive

MalaCards organs/tissues related to Aplasia Cutis Congenita of Limbs Recessive:

41
Skin

Publications for Aplasia Cutis Congenita of Limbs Recessive

Articles related to Aplasia Cutis Congenita of Limbs Recessive:

# Title Authors Year
1
Recessive aplasia cutis congenita of the limbs. ( 7381866 )
1980

Variations for Aplasia Cutis Congenita of Limbs Recessive

Expression for Aplasia Cutis Congenita of Limbs Recessive

Search GEO for disease gene expression data for Aplasia Cutis Congenita of Limbs Recessive.

Pathways for Aplasia Cutis Congenita of Limbs Recessive

GO Terms for Aplasia Cutis Congenita of Limbs Recessive

Sources for Aplasia Cutis Congenita of Limbs Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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