CHILD
MCID: CHL079
MIFTS: 46

Children's Interstitial Lung Disease (CHILD) malady

Bone diseases, Skin diseases, Metabolic diseases, Fetal diseases, Cancer diseases, Respiratory diseases categories

Summaries for Children's Interstitial Lung Disease

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 meningitis, and has symptoms including adrenal glands anomalies, decreased body hair/axillar/pubic hairlessness and hypoplastic lungs/pulmonary hypoplasia/agenesis. An important gene associated with Children's Interstitial Lung Disease is NSDHL (NAD(P) dependent steroid dehydrogenase-like). Affiliated tissues include lung, skin and heart.

Description from OMIM:46 308050

Aliases & Classifications for Children's Interstitial Lung Disease

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
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 42
child syndrome 42 20 22 46 44 48 60
congenital hemidysplasia with ichthyosiform nevus and limbs defects 48
congenital hemidysplasia with ichthyosiform nevus and limb defects 42
ichthyosis, child syndrome 42
benign melanocytic nevus 60
child nevus 48
child 42


External Ids:

OMIM46 308050
ICD10 via Orphanet26 Q87.8
SNOMED-CT via Orphanet57 17608003
UMLS via Orphanet61 C0265267

Related Diseases for Children's Interstitial Lung Disease

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17GeneCards, 18GeneDecks
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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

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46OMIM, 48Orphanet
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Clinical features from OMIM:

308050

Clinical synopsis from OMIM:

308050

Symptoms:

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

Drugs & Therapeutics for Children's Interstitial Lung Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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20GeneTests, 22GTR
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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

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32MalaCards
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MalaCards organs/tissues related to Children's Interstitial Lung Disease:

32
Lung, Skin, Heart, Kidney, Brain, Bone, Ovary, Adrenal gland, Uterus, Thyroid

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

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Publications for Children's Interstitial Lung Disease

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Genetic Variations for Children's Interstitial Lung Disease

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Children's Interstitial Lung Disease:

62
id Symbol AA change Variation ID SNP ID
1NSDHLp.Ala105ValVAR_010207
2NSDHLp.Gly205SerVAR_010208
3NSDHLp.Ala182ProVAR_065289

Expression for genes affiliated with Children's Interstitial Lung Disease

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

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Pathways for genes affiliated with Children's Interstitial Lung Disease

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Compounds for genes affiliated with Children's Interstitial Lung Disease

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

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Products for genes affiliated with Children's Interstitial Lung Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Children's Interstitial Lung Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet