MCID: APL026
MIFTS: 21

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 57
Aplasia Cutis Congenita Intestinal Lymphangiectasia 53 73
Acc with Intestinal Lymphangiectasia 57 53
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome 59
Autosomal Recessive Aplasia Cutis 59
Bronspiegel-Zelnick Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
aplasia cutis congenita-intestinal lymphangiectasia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
aplasia cutis congenita with intestinal lymphangiectasia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 207731
Orphanet 59 ORPHA1116
MESH via Orphanet 45 C537788
UMLS via Orphanet 74 C1859753
MedGen 42 C1859753
UMLS 73 C1859753

Summaries for Aplasia Cutis Congenita with Intestinal Lymphangiectasia

NIH Rare Diseases : 53 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 malabsorption and abnormal bleeding

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Aplasia Cutis Congenita with Intestinal Lymphangiectasia:

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malabsorption 59 32 frequent (33%) Frequent (79-30%) HP:0002024
2 abnormal bleeding 59 32 occasional (7.5%) Occasional (29-5%) HP:0001892
3 lymphedema 59 32 hallmark (90%) Very frequent (99-80%) HP:0001004
4 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
5 decreased antibody level in blood 59 32 frequent (33%) Frequent (79-30%) HP:0004313
6 abnormal hair quantity 59 32 hallmark (90%) Very frequent (99-80%) HP:0011362
7 chorioretinal coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000567
8 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
9 lymphopenia 59 32 frequent (33%) Frequent (79-30%) HP:0001888
10 bilateral single transverse palmar creases 59 32 hallmark (90%) Very frequent (99-80%) HP:0007598
11 abnormality of coagulation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001928
12 hypoproteinemia 59 32 frequent (33%) Frequent (79-30%) HP:0003075
13 skull defect 59 Very frequent (99-80%)
14 aplasia cutis congenita over the scalp vertex 32 HP:0004471
15 abnormality of the paranasal sinuses 32 HP:0000245
16 generalized edema 32 HP:0007430
17 intestinal lymphangiectasia 32 HP:0002593
18 calvarial skull defect 32 hallmark (90%) HP:0001362

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:

41
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 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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