DEL
MCID: 1Q4001
MIFTS: 11

1q44 Microdeletion Syndrome (DEL) malady

Fetal category

Summaries for 1q44 Microdeletion Syndrome

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33MalaCards
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MalaCards: 1q44 Microdeletion Syndrome, is also known as monosomy 1q44, and has symptoms including frontal bossing/prominent forehead, hypertelorism and corpus callosum/septum pellucidum total/partial agenesis.

Aliases & Classifications for 1q44 Microdeletion Syndrome

Sources:
43NIH Rare Diseases, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal


Characteristics (Orphanet epidemiological data):

49
1q44 microdeletion syndrome:
Inheritance: Sporadic; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

1q44 microdeletion syndrome 43 49
monosomy 1q44 43 49
del 43 49
chromosome 1q44 microdeletion syndrome 43
chromosome deletion 61


External Ids:

ICD10 via Orphanet26 Q93.5

Clinical Features for 1q44 Microdeletion Syndrome

Sources:
49Orphanet
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Symptoms:

49 (show all 31)
  • frontal bossing/prominent forehead
  • hypertelorism
  • corpus callosum/septum pellucidum total/partial agenesis
  • scoliosis
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • high vaulted/narrow palate
  • hydrocephaly
  • hypotonia
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • philtrum flat/large/featureless/absent cupidon bows
  • short stature/dwarfism/nanism
  • microcephaly
  • micrognathia/retrognathia/micrognathism/retrognathism
  • strabismus/squint
  • narrow forehead
  • insterstitial/subtelomeric microdeletion/deletion
  • dilated cerebral ventricles without hydrocephaly
  • telecanthus/canthal dystopy
  • agenesis/hypoplasia/aplasia of kidneys
  • cardiac septal defect
  • preauricular/branchial tags/appendages
  • upslanted palpebral fissures/mongoloid slanting palpebral fissures
  • intestinal/gut/bowel malrotation
  • hypospadias/epispadias/bent penis
  • thin/retracted lips
  • high forehead
  • synophris/synophrys
  • prominent metopic suture

Drugs & Therapeutics for 1q44 Microdeletion Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for 1q44 Microdeletion Syndrome

Drug clinical trials:

Search ClinicalTrials for 1q44 Microdeletion Syndrome

Search NIH Clinical Center for 1q44 Microdeletion Syndrome

Search CenterWatch for 1q44 Microdeletion Syndrome

Genetic Tests for 1q44 Microdeletion Syndrome

Anatomical Context for 1q44 Microdeletion Syndrome

Animal Models for 1q44 Microdeletion Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for 1q44 Microdeletion Syndrome

Sources:
51PubMed
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Articles related to 1q44 Microdeletion Syndrome:

idTitleAuthorsYear
1
Hemiconvulsion-hemiplegia-epilepsy syndrome with 1q44 microdeletion: Causal or chance association. (24214579)
2014

Genetic Variations for 1q44 Microdeletion Syndrome

Expression for genes affiliated with 1q44 Microdeletion Syndrome

Sources:
15Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for 1q44 Microdeletion Syndrome.

Pathways for genes affiliated with 1q44 Microdeletion Syndrome

Compounds for genes affiliated with 1q44 Microdeletion Syndrome

GO Terms for genes affiliated with 1q44 Microdeletion Syndrome

Products for genes affiliated with 1q44 Microdeletion Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for 1q44 Microdeletion Syndrome

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