MCID: CMP075
MIFTS: 24

Campomelia, Cumming Type

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

Aliases & Classifications for Campomelia, Cumming Type

MalaCards integrated aliases for Campomelia, Cumming Type:

Name: Campomelia, Cumming Type 57 59
Cervical Lymphocele with Bowed Long Bones 57 53
Campomelia Cumming Type 53 72
Cumming Syndrome 57 53
Campomelia, Cervical Lymphocele, Polysplenia, and Multicystic Dysplastic Kidneys 53

Characteristics:

Orphanet epidemiological data:

59
campomelia, cumming type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile,stillbirth;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
campomelia, cumming type:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 211890
MESH via Orphanet 45 C537966
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C1859371
Orphanet 59 ORPHA1318
MedGen 42 C1859371
UMLS 72 C1859371

Summaries for Campomelia, Cumming Type

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1318DefinitionCampomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.EpidemiologyThe syndrome has been reported in eight infants from four different families.Clinical descriptionSkeletal features include tetramelic campomelia and short long bones. Extraskeletal manifestations may include cervical lymphocele, generalized hydrops, polycystic kidneys, pancreas and liver, fibrotic liver or pancreas, polysplenia, heterotaxia (see this term), lung hypoplastia, short bowel. All newborns reported so far were either stillborn or died shortly after birth.Genetic counselingIn one of the affected families, three sibs with identical features born to first-cousin parents have been reported, suggestive of autosomal recessive mode of inheritance.Visit the Orphanet disease page for more resources.

MalaCards based summary : Campomelia, Cumming Type, also known as cervical lymphocele with bowed long bones, is related to lymphocele and visceral heterotaxy. Affiliated tissues include kidney, bone and liver, and related phenotypes are skeletal dysplasia and bowing of the long bones

More information from OMIM: 211890

Related Diseases for Campomelia, Cumming Type

Diseases related to Campomelia, Cumming Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lymphocele 10.2
2 visceral heterotaxy 10.1
3 campomelic dysplasia 9.9
4 dextrocardia 9.9
5 pulmonary venous return anomaly 9.9
6 right aortic arch 9.9

Graphical network of the top 20 diseases related to Campomelia, Cumming Type:



Diseases related to Campomelia, Cumming Type

Symptoms & Phenotypes for Campomelia, Cumming Type

Human phenotypes related to Campomelia, Cumming Type:

59 32 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
2 bowing of the long bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0006487
3 cleft palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000175
4 dolichocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000268
5 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
6 cystic hygroma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000476
7 multicystic kidney dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000003
8 pancreatic cysts 59 32 hallmark (90%) Very frequent (99-80%) HP:0001737
9 multiple renal cysts 59 32 hallmark (90%) Very frequent (99-80%) HP:0005562
10 abnormality of the ribs 59 32 hallmark (90%) Very frequent (99-80%) HP:0000772
11 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
12 prematurely aged appearance 59 32 hallmark (90%) Very frequent (99-80%) HP:0007495
13 clubbing of toes 59 32 hallmark (90%) Very frequent (99-80%) HP:0100760
14 oligohydramnios 59 32 hallmark (90%) Very frequent (99-80%) HP:0001562
15 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
16 myelodysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0002863
17 hydrops fetalis 59 32 frequent (33%) Frequent (79-30%) HP:0001789
18 skin dimple 32 frequent (33%) HP:0010781
19 abnormally ossified vertebrae 32 frequent (33%) HP:0100569
20 coarse facial features 59 32 occasional (7.5%) Occasional (29-5%) HP:0000280
21 lymphedema 59 32 occasional (7.5%) Occasional (29-5%) HP:0001004
22 aplasia/hypoplasia affecting the eye 59 32 occasional (7.5%) Occasional (29-5%) HP:0008056
23 abnormal intestine morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0002242
24 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
25 short stature 32 HP:0004322
26 malformation of the heart and great vessels 59 Occasional (29-5%)
27 death in infancy 59 Very frequent (99-80%)
28 abnormality of the thorax 59 Frequent (79-30%)
29 polycystic kidney dysplasia 32 HP:0000113
30 abnormality of the pancreas 59 Very frequent (99-80%)
31 skin dimples 59 Frequent (79-30%)
32 abnormal vertebral ossification 59 Frequent (79-30%)
33 polysplenia 32 HP:0001748
34 polycystic liver disease 32 HP:0006557

Symptoms via clinical synopsis from OMIM:

57
Renal:
polycystic kidney dysplasia

Limbs:
bowed
short

Pancreas:
polycystic dysplasia

G I:
short gut

Spleen:
polysplenia

Neck:
cervical lymphocele (cystic hygroma)

Liver:
polycystic dysplasia

Skin:
generalized lymphedema

Clinical features from OMIM:

211890

Drugs & Therapeutics for Campomelia, Cumming Type

Search Clinical Trials , NIH Clinical Center for Campomelia, Cumming Type

Genetic Tests for Campomelia, Cumming Type

Anatomical Context for Campomelia, Cumming Type

MalaCards organs/tissues related to Campomelia, Cumming Type:

41
Kidney, Bone, Liver, Pancreas, Lung, Skin, Eye

Publications for Campomelia, Cumming Type

Articles related to Campomelia, Cumming Type:

# Title Authors PMID Year
1
Differentiating campomelic dysplasia from Cumming syndrome. 38 8
15754354 2005
2
Two new cases of Cumming syndrome confirming autosomal recessive inheritance. 38 8
10051169 1999
3
Heterotaxia in a fetus with campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys: expanding the phenotype of Cumming syndrome. 38 8
9415469 1997
4
Campomelia, polycystic dysplasia, and cervical lymphocele in two sibs. 8
1776641 1991
5
Campomelia, cervical lymphocele, polycystic dysplasia, short gut, polysplenia. 8
3538874 1986
6
Cumming syndrome with heterotaxia, campomelia and absent uterus/fallopian tubes. 38
15523630 2005
7
Cumming syndrome: report of two additional cases. 38
9799304 1998

Variations for Campomelia, Cumming Type

Expression for Campomelia, Cumming Type

Search GEO for disease gene expression data for Campomelia, Cumming Type.

Pathways for Campomelia, Cumming Type

GO Terms for Campomelia, Cumming Type

Sources for Campomelia, Cumming Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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