MCID: APL026
MIFTS: 16

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 20 70
Acc with Intestinal Lymphangiectasia 57 20
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome 58
Bronspiegel-Zelnick Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
aplasia cutis congenita-intestinal lymphangiectasia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
aplasia cutis congenita with intestinal lymphangiectasia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare gastroenterological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 207731
MESH via Orphanet 45 C537788
UMLS via Orphanet 71 C1859753
Orphanet 58 ORPHA1116
MedGen 41 C1859753
UMLS 70 C1859753

Summaries for Aplasia Cutis Congenita with Intestinal Lymphangiectasia

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1116 Definition 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.

MalaCards based summary : Aplasia Cutis Congenita with Intestinal Lymphangiectasia, is also known as aplasia cutis congenita intestinal lymphangiectasia. Related phenotypes are lymphedema and bilateral single transverse palmar creases

More information from OMIM: 207731

Related Diseases for Aplasia Cutis Congenita with Intestinal Lymphangiectasia

Symptoms & Phenotypes for Aplasia Cutis Congenita with Intestinal Lymphangiectasia

Human phenotypes related to Aplasia Cutis Congenita with Intestinal Lymphangiectasia:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lymphedema 58 31 hallmark (90%) Very frequent (99-80%) HP:0001004
2 bilateral single transverse palmar creases 58 31 hallmark (90%) Very frequent (99-80%) HP:0007598
3 abnormal hair quantity 58 31 hallmark (90%) Very frequent (99-80%) HP:0011362
4 calvarial skull defect 31 hallmark (90%) HP:0001362
5 malabsorption 58 31 frequent (33%) Frequent (79-30%) HP:0002024
6 lymphopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001888
7 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
8 hypoproteinemia 58 31 frequent (33%) Frequent (79-30%) HP:0003075
9 decreased circulating antibody level 31 frequent (33%) HP:0004313
10 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
11 chorioretinal coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000567
12 abnormal bleeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0001892
13 abnormality of coagulation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001928
14 decreased antibody level in blood 58 Frequent (79-30%)
15 skull defect 58 Very frequent (99-80%)
16 aplasia cutis congenita over the scalp vertex 31 HP:0004471
17 generalized edema 31 HP:0007430
18 intestinal lymphangiectasia 31 HP:0002593
19 abnormal paranasal sinus morphology 31 HP:0000245

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

Publications for Aplasia Cutis Congenita with Intestinal Lymphangiectasia

Articles related to Aplasia Cutis Congenita with Intestinal Lymphangiectasia:

# Title Authors PMID Year
1
Aplasia cutis congenita and intestinal lymphangiectasia. An unusual association. 57
3984978 1985

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
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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