MCID: APL026
MIFTS: 20

Aplasia Cutis Congenita with Intestinal Lymphangiectasia

Categories: Cardiovascular diseases, Fetal diseases, Gastrointestinal diseases, Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Aplasia Cutis Congenita with Intestinal Lymphangiectasia

MalaCards integrated aliases for Aplasia Cutis Congenita with Intestinal Lymphangiectasia:

Name: Aplasia Cutis Congenita with Intestinal Lymphangiectasia 58
Aplasia Cutis Congenita Intestinal Lymphangiectasia 54 74
Acc with Intestinal Lymphangiectasia 58 54
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome 60
Autosomal Recessive Aplasia Cutis 60
Bronspiegel-Zelnick Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
aplasia cutis congenita-intestinal lymphangiectasia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
aplasia cutis congenita with intestinal lymphangiectasia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 207731
MESH via Orphanet 46 C537788
UMLS via Orphanet 75 C1859753
Orphanet 60 ORPHA1116
MedGen 43 C1859753
UMLS 74 C1859753

Summaries for Aplasia Cutis Congenita with Intestinal Lymphangiectasia

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1116Disease definitionAplasia cutis congenita-intestinal lymphangiectasia syndrome is an extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985.Visit the Orphanet disease page for more resources.

MalaCards based summary : Aplasia Cutis Congenita with Intestinal Lymphangiectasia, also known as aplasia cutis congenita intestinal lymphangiectasia, is related to aplasia cutis congenita. Affiliated tissues include skin, and related phenotypes are lymphedema and abnormal hair quantity

Description from OMIM: 207731

Related Diseases for Aplasia Cutis Congenita with Intestinal Lymphangiectasia

Diseases related to Aplasia Cutis Congenita with Intestinal Lymphangiectasia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 aplasia cutis congenita 10.1

Symptoms & Phenotypes for Aplasia Cutis Congenita with Intestinal Lymphangiectasia

Human phenotypes related to Aplasia Cutis Congenita with Intestinal Lymphangiectasia:

60 33 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lymphedema 60 33 hallmark (90%) Very frequent (99-80%) HP:0001004
2 abnormal hair quantity 60 33 hallmark (90%) Very frequent (99-80%) HP:0011362
3 bilateral single transverse palmar creases 60 33 hallmark (90%) Very frequent (99-80%) HP:0007598
4 calvarial skull defect 33 hallmark (90%) HP:0001362
5 malabsorption 60 33 frequent (33%) Frequent (79-30%) HP:0002024
6 decreased antibody level in blood 60 33 frequent (33%) Frequent (79-30%) HP:0004313
7 clinodactyly of the 5th finger 60 33 frequent (33%) Frequent (79-30%) HP:0004209
8 lymphopenia 60 33 frequent (33%) Frequent (79-30%) HP:0001888
9 hypoproteinemia 60 33 frequent (33%) Frequent (79-30%) HP:0003075
10 abnormal bleeding 60 33 occasional (7.5%) Occasional (29-5%) HP:0001892
11 myopia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000545
12 chorioretinal coloboma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000567
13 abnormality of coagulation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001928
14 skull defect 60 Very frequent (99-80%)
15 aplasia cutis congenita over the scalp vertex 33 HP:0004471
16 abnormality of the paranasal sinuses 33 HP:0000245
17 generalized edema 33 HP:0007430
18 intestinal lymphangiectasia 33 HP:0002593

Symptoms via clinical synopsis from OMIM:

58
Heme:
lymphopenia

Skin:
generalized edema
aplasia cutis congenita of vertex

Neuro:
sagittal sinus bleeding

Lab:
hypoproteinemia

G I:
intestinal lymphangiectasia

Skull:
bony defect underlying acc

Clinical features from OMIM:

207731

Drugs & Therapeutics for Aplasia Cutis Congenita with Intestinal Lymphangiectasia

Search Clinical Trials , NIH Clinical Center for Aplasia Cutis Congenita with Intestinal Lymphangiectasia

Genetic Tests for Aplasia Cutis Congenita with Intestinal Lymphangiectasia

Anatomical Context for Aplasia Cutis Congenita with Intestinal Lymphangiectasia

MalaCards organs/tissues related to Aplasia Cutis Congenita with Intestinal Lymphangiectasia:

42
Skin

Publications for Aplasia Cutis Congenita with Intestinal Lymphangiectasia

Articles related to Aplasia Cutis Congenita with Intestinal Lymphangiectasia:

# Title Authors Year
1
Autosomal-recessive aplasia cutis congenita--report of two affected sibs. ( 6859116 )
1983

Variations for Aplasia Cutis Congenita with Intestinal Lymphangiectasia

Expression for Aplasia Cutis Congenita with Intestinal Lymphangiectasia

Search GEO for disease gene expression data for Aplasia Cutis Congenita with Intestinal Lymphangiectasia.

Pathways for Aplasia Cutis Congenita with Intestinal Lymphangiectasia

GO Terms for Aplasia Cutis Congenita with Intestinal Lymphangiectasia

Sources for Aplasia Cutis Congenita with Intestinal Lymphangiectasia

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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