Cutis Laxa, Neonatal, with Marfanoid Phenotype disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Cutis Laxa, Neonatal, with Marfanoid Phenotype

MalaCards integrated aliases for Cutis Laxa, Neonatal, with Marfanoid Phenotype:

Name: Cutis Laxa, Neonatal, with Marfanoid Phenotype ⁵⁶ ²⁹

Cutis Laxa-Marfanoid Syndrome ⁵⁶ ⁵⁸ ⁷¹

Characteristics:

Orphanet epidemiological data:

⁵⁸

cutis laxa-marfanoid syndrome
Age of onset: Infancy,Neonatal;

OMIM:

⁵⁶

Inheritance:
autosomal dominant

HPO:

³¹

cutis laxa, neonatal, with marfanoid phenotype:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare systemic and rhumatological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁶ 614100

UMLS via Orphanet ⁷² C0432335

Orphanet ⁵⁸ ORPHA171719

MedGen ⁴¹ C0432335

SNOMED-CT via HPO ⁶⁸ 13213009 157265008 17190001 more

UMLS ⁷¹ C0432335

Sources

Summaries for Cutis Laxa, Neonatal, with Marfanoid Phenotype

MalaCards based summary : Cutis Laxa, Neonatal, with Marfanoid Phenotype, is also known as cutis laxa-marfanoid syndrome. Affiliated tissues include heart, bone and skin, and related phenotypes are flexion contracture and emphysema

More information from OMIM: 614100

Sources

Related Diseases for Cutis Laxa, Neonatal, with Marfanoid Phenotype

Sources

Symptoms & Phenotypes for Cutis Laxa, Neonatal, with Marfanoid Phenotype

Human phenotypes related to Cutis Laxa, Neonatal, with Marfanoid Phenotype:

⁵⁸ ³¹ (show all 10)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	flexion contracture ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001371
2	emphysema ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002097
3	arachnodactyly ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001166
4	hip dislocation ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002827
5	redundant skin ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001582
6	congenital diaphragmatic hernia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000776
7	limitation of joint mobility ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001376
8	abnormal heart valve morphology ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001654
9	abnormal heart morphology ³¹			HP:0001627
10	cutis laxa ³¹			HP:0000973

Symptoms via clinical synopsis from OMIM:

⁵⁶

Respiratory Lung:
emphysema

Skeletal Pelvis:
hip dislocation

Cardiovascular Heart:
congenital heart defect

Laboratory Abnormalities:
deficiency of laminin in basement membranes

Skeletal Limbs:
arachnodactyly
mild elbow, hip, and knee contractures

Skin Nails Hair Skin:
cutis laxa

Chest Diaphragm:
diaphragmatic hernia

Clinical features from OMIM:

614100

Sources

Drugs & Therapeutics for Cutis Laxa, Neonatal, with Marfanoid Phenotype

Search Clinical Trials , NIH Clinical Center for Cutis Laxa, Neonatal, with Marfanoid Phenotype

Sources

Genetic Tests for Cutis Laxa, Neonatal, with Marfanoid Phenotype

Genetic tests related to Cutis Laxa, Neonatal, with Marfanoid Phenotype:

#	Genetic test	Affiliating Genes
1	Cutis Laxa, Neonatal, with Marfanoid Phenotype ²⁹

Sources

Anatomical Context for Cutis Laxa, Neonatal, with Marfanoid Phenotype

MalaCards organs/tissues related to Cutis Laxa, Neonatal, with Marfanoid Phenotype:

⁴⁰

Heart, Bone, Skin

Sources

Publications for Cutis Laxa, Neonatal, with Marfanoid Phenotype

Articles related to Cutis Laxa, Neonatal, with Marfanoid Phenotype:

#	Title	Authors	PMID	Year
1	Recurrent ctb(7)(q31.3) and possible laminin involvement in a neonatal cutis laxa with a Marfan phenotype. ⁵⁶	Bonneau D...Larregue M	1864606	1991
2	Severe perinatal Marfan syndrome. ⁵⁶	Gross DM...Duvic M	2740180	1989
3	Pulmonary emphysema in a neonate with Marfan syndrome. ⁵⁶	Day DL...Burke BA	3774401	1986
4	Marfan's syndrome presenting as an intrapartum death. ⁵⁶	Buchanan R...Wyatt GP	3840972	1985
5	Early cardiac manifestations of Marfan's syndrome in the newborn. ⁵⁶	Lababidi Z...Monzon C	7304406	1981
6	Cardiac studies of infant twins with Marfan's syndrome. ⁵⁶	Hohn AR...Webb HM	5156260	1971
7	[Marfan's disease in a newborn infant with polyvisceral lesions. Anatomo-clinic study]. ⁵⁶	Neimann N...Fall M	4237829	1968

Sources

Genes for Cutis Laxa, Neonatal, with Marfanoid Phenotype

Sources

Variations for Cutis Laxa, Neonatal, with Marfanoid Phenotype

Sources

Expression for Cutis Laxa, Neonatal, with Marfanoid Phenotype

Search GEO for disease gene expression data for Cutis Laxa, Neonatal, with Marfanoid Phenotype.

Sources

Pathways for Cutis Laxa, Neonatal, with Marfanoid Phenotype

Sources

GO Terms for Cutis Laxa, Neonatal, with Marfanoid Phenotype

Sources

Sources for Cutis Laxa, Neonatal, with Marfanoid Phenotype

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia