CHILD
MCID: CHL079
MIFTS: 39

Children's Interstitial Lung Disease (CHILD) malady

Bone, Skin, Metabolic, Fetal, Respiratory categories

Summaries for Children's Interstitial Lung Disease

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:43 Child syndrome, also known as congenital hemidysplasia with ichthyosiform erythroderma and limb defects, is a genetic condition that is typically characterized by large patches of skin that are red and inflamed (erythroderma) and covered with flaky scales (ichthyosis) and limb underdevelopment or absence. the development of organs such as the brain, heart, lungs, and kidneys may also be affected. several cases in which milder signs and symptoms have been reported in the medical literature. the condition is caused by mutations in the nsdhl gene, a gene that provides instructions for the production of an enzyme involved in the making of cholesterol. child syndrome is inherited in an x-linked dominant fashion and is almost exclusively found in females. last updated: 1/28/2010

MalaCards: Children's Interstitial Lung Disease, also known as child syndrome, is related to acute leukemia and hepatitis c, and has symptoms including epiphyseal anomaly, cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy and intellectual deficit/mental/psychomotor retardation/learning disability. An important gene associated with Children's Interstitial Lung Disease is NSDHL (NAD(P) dependent steroid dehydrogenase-like). Affiliated tissues include skin, brain and kidney.

Description from OMIM:47 308050

Aliases & Classifications for Children's Interstitial Lung Disease

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Bone, Skin, Metabolic, Respiratory


Characteristics (Orphanet epidemiological data):

49
child syndrome:
Inheritance: Sporadic,X-linked dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

children's interstitial lung disease 43
child syndrome 43 20 22 47 45 49 61
congenital hemidysplasia with ichthyosiform nevus and limbs defects 49
congenital hemidysplasia with ichthyosiform nevus and limb defects 43
ichthyosis, child syndrome 43
benign melanocytic nevus 61
child nevus 49
child 43


External Ids:

OMIM47 308050
ICD10 via Orphanet26 Q87.8
SNOMED-CT via Orphanet58 17608003
UMLS via Orphanet62 C0265267

Related Diseases for Children's Interstitial Lung Disease

Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of the top 20 diseases related to Children's Interstitial Lung Disease:



Diseases related to children's interstitial lung disease

Clinical Features for Children's Interstitial Lung Disease

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

308050

Clinical synopsis from OMIM:

308050

Symptoms:

49 (show all 44)
  • epiphyseal anomaly
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • kyphosis
  • hearing loss/hypoacusia/deafness
  • anomalies of bones/skeletal anomalies
  • ichthyosis/ichthyosiform dermatitis
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • nails anomalies
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • dry/squaly skin/exfoliation
  • cutaneous rash
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • sensitive trouble/deficit
  • anomalies of the ribs
  • cardiac valvulopathy
  • congenital cardiac anomaly/malformation/cardiopathy
  • thin skin
  • arteriovenous malformations/vascular malformations (excluding port-wine stains)
  • abnormal/polycystic ovaries
  • atrial septal defect/interauricular communication
  • scapula structural/position anomaly/congenital elevation/sprengel anomaly
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • x-linked dominant inheritance
  • asymmetry of the body/hemiatrophy/hemihyperthrophy
  • intrauterine growth retardation
  • agenesis/hypoplasia/aplasia of kidneys
  • uterine/uterus/fallopian tubes anomalies
  • adrenal glands anomalies
  • bone/osseous hypoplasia
  • meningocele
  • ventricular septal defect/interventricular communication
  • thyroid anomalies
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • decreased body hair/axillar/pubic hairlessness
  • hypoplastic left heart/ventricle
  • dysplastic/thick/grooved fingernails
  • alopecia
  • myelomeningocele
  • absent pectoral muscles
  • upper limb transverse anomaly (excluding hand)
  • cranial nerve anomalies
  • cutaneous/amniotic bands/webbing of joints

Drugs & Therapeutics for Children's Interstitial Lung Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Children's Interstitial Lung Disease

Drug clinical trials:

Search ClinicalTrials for Children's Interstitial Lung Disease

Search NIH Clinical Center for Children's Interstitial Lung Disease

Search CenterWatch for Children's Interstitial Lung Disease

Genetic Tests for Children's Interstitial Lung Disease

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Children's Interstitial Lung Disease:

id Genetic test Affiliating Genes
1 Child Syndrome20 22

Anatomical Context for Children's Interstitial Lung Disease

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Children's Interstitial Lung Disease:

33
Skin, Brain, Kidney, Lung, Heart

Animal Models for Children's Interstitial Lung Disease or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Children's Interstitial Lung Disease

Sources:
51PubMed
See all sources

Articles related to Children's Interstitial Lung Disease:

idTitleAuthorsYear
1
Natural history of five children with surfactant protein C mutations and interstitial lung disease. (24347114)
2013
2
Inhalation toxicity of humidifier disinfectants as a risk factor of children's interstitial lung disease in Korea: a case-control study. (23755124)
2013
3
Surfactant dysfunction mutations in children's interstitial lung disease and beyond. (16216835)
2005

Genetic Variations for Children's Interstitial Lung Disease

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Children's Interstitial Lung Disease:

63
id Symbol AA change Variation SNP ID
1NSDHLp.Ala105ValVAR_010207
2NSDHLp.Gly205SerVAR_010208
3NSDHLp.Ala182ProVAR_065289

Expression for genes affiliated with Children's Interstitial Lung Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Children's Interstitial Lung Disease

Search GEO for disease gene expression data for Children's Interstitial Lung Disease.

Pathways for genes affiliated with Children's Interstitial Lung Disease

Compounds for genes affiliated with Children's Interstitial Lung Disease

GO Terms for genes affiliated with Children's Interstitial Lung Disease

Products for genes affiliated with Children's Interstitial Lung Disease

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Children's Interstitial Lung Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet