MCID: CMP075
MIFTS: 26

Campomelia, Cumming Type

Categories: Bone diseases, Fetal diseases, Immune diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Campomelia, Cumming Type

MalaCards integrated aliases for Campomelia, Cumming Type:

Name: Campomelia, Cumming Type 57 58
Cervical Lymphocele with Bowed Long Bones 57 19
Campomelia Cumming Type 19 71
Cumming Syndrome 57 19
Campomelia, Cervical Lymphocele, Polysplenia, and Multicystic Dysplastic Kidneys 19

Characteristics:


Inheritance:

Autosomal recessive 58 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Neonatal 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Campomelia, Cumming Type

GARD: 19 Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.

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

Orphanet: 58 Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.

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 campomelic dysplasia 10.1
3 visceral heterotaxy 10.1
4 total anomalous pulmonary venous return 1 10.0
5 right atrial isomerism 10.0
6 dextrocardia 10.0
7 renal dysplasia 10.0
8 right aortic arch 10.0

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:

58 30 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skeletal dysplasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002652
2 bowing of the long bones 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006487
3 cleft palate 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000175
4 cystic hygroma 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000476
5 dolichocephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000268
6 prematurely aged appearance 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007495
7 brachydactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001156
8 multiple renal cysts 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005562
9 clubbing of toes 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100760
10 micromelia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002983
11 multicystic kidney dysplasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000003
12 oligohydramnios 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001562
13 pancreatic cysts 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001737
14 abnormal rib morphology 30 Hallmark (90%) HP:0000772
15 hepatomegaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0002240
16 hydrops fetalis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001789
17 myelodysplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002863
18 skin dimple 58 30 Frequent (33%) Frequent (79-30%)
HP:0010781
19 abnormally ossified vertebrae 58 30 Frequent (33%) Frequent (79-30%)
HP:0100569
20 coarse facial features 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000280
21 lymphedema 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001004
22 aplasia/hypoplasia affecting the eye 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008056
23 abnormal intestine morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002242
24 abnormality of cardiovascular system morphology 30 Occasional (7.5%) HP:0030680
25 short stature 30 HP:0004322
26 malformation of the heart and great vessels 58 Occasional (29-5%)
27 abnormality of the ribs 58 Very frequent (99-80%)
28 death in infancy 58 Very frequent (99-80%)
29 polycystic kidney dysplasia 30 HP:0000113
30 abnormality of the thorax 58 Frequent (79-30%)
31 abnormality of the pancreas 58 Very frequent (99-80%)
32 polysplenia 30 HP:0001748
33 polycystic liver disease 30 HP:0006557

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

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

Organs/tissues related to Campomelia, Cumming Type:

MalaCards : Bone, Kidney, Pancreas, Eye, Liver, Skin, Heart

Publications for Campomelia, Cumming Type

Articles related to Campomelia, Cumming Type:

# Title Authors PMID Year
1
Differentiating campomelic dysplasia from Cumming syndrome. 62 57
15754354 2005
2
Two new cases of Cumming syndrome confirming autosomal recessive inheritance. 62 57
10051169 1999
3
Heterotaxia in a fetus with campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys: expanding the phenotype of Cumming syndrome. 62 57
9415469 1997
4
Campomelia, polycystic dysplasia, and cervical lymphocele in two sibs. 57
1776641 1991
5
Campomelia, cervical lymphocele, polycystic dysplasia, short gut, polysplenia. 57
3538874 1986
6
Cumming syndrome with heterotaxia, campomelia and absent uterus/fallopian tubes. 62
15523630 2005
7
Cumming syndrome: report of two additional cases. 62
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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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