Campomelia, Cumming Type disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Neuronal diseases Bone diseases Immune diseases Nephrological diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other specified congenital malformation syndromes, not elsewhere classified

Orphanet: ⁵⁸

Rare neurological diseases

Rare bone diseases

Developmental anomalies during embryogenesis

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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

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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
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:

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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)

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Drugs & Therapeutics for Campomelia, Cumming Type

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

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Genetic Tests for Campomelia, Cumming Type

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Anatomical Context for Campomelia, Cumming Type

Organs/tissues related to Campomelia, Cumming Type:

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

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Publications for Campomelia, Cumming Type

Articles related to Campomelia, Cumming Type:

#	Title	Authors	PMID	Year
1	Differentiating campomelic dysplasia from Cumming syndrome. ⁶² ⁵⁷	Watiker V...Scherer G	15754354	2005
2	Two new cases of Cumming syndrome confirming autosomal recessive inheritance. ⁶² ⁵⁷	Perez del Rio MJ...Herrero A	10051169	1999
3	Heterotaxia in a fetus with campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys: expanding the phenotype of Cumming syndrome. ⁶² ⁵⁷	Ming JE...Zackai EH	9415469	1997
4	Campomelia, polycystic dysplasia, and cervical lymphocele in two sibs. ⁵⁷	Urioste M...Martinez-Frias ML	1776641	1991
5	Campomelia, cervical lymphocele, polycystic dysplasia, short gut, polysplenia. ⁵⁷	Cumming WA...Ali A	3538874	1986
6	Cumming syndrome with heterotaxia, campomelia and absent uterus/fallopian tubes. ⁶²	Bedeschi MF...Lalatta F	15523630	2005
7	Cumming syndrome: report of two additional cases. ⁶²	Dibbern KM...Wilcox WR	9799304	1998

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Genes for Campomelia, Cumming Type

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Variations for Campomelia, Cumming Type

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Expression for Campomelia, Cumming Type

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

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GO Terms for Campomelia, Cumming Type

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⁵⁷ OMIM® (Updated 08-Dec-2022)

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MCID: CMP075 MIFTS: 26	Campomelia, Cumming Type Categories: Bone diseases, Fetal diseases, Immune diseases, Nephrological diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Campomelia, Cumming Type

Aliases & Classifications for Campomelia, Cumming Type

MalaCards integrated aliases for Campomelia, Cumming Type:

Characteristics:

Inheritance:

Prevelance:

Age Of Onset:

Classifications:

External Ids:

Summaries for Campomelia, Cumming Type

Related Diseases for Campomelia, Cumming Type

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

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

Symptoms & Phenotypes for Campomelia, Cumming Type

Human phenotypes related to Campomelia, Cumming Type:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Campomelia, Cumming Type

Genetic Tests for Campomelia, Cumming Type

Anatomical Context for Campomelia, Cumming Type

Organs/tissues related to Campomelia, Cumming Type:

Publications for Campomelia, Cumming Type

Articles related to Campomelia, Cumming Type:

Genes for Campomelia, Cumming Type

Variations for Campomelia, Cumming Type

Expression for Campomelia, Cumming Type

Pathways for Campomelia, Cumming Type

GO Terms for Campomelia, Cumming Type

Sources for Campomelia, Cumming Type