MCID: 1Q4001
MIFTS: 17

1q44 Microdeletion Syndrome malady

Genetic diseases, Rare diseases, Fetal diseases, Neuronal diseases, Bone diseases, Mental diseases, Nephrological diseases categories
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Summaries for 1q44 Microdeletion Syndrome

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MalaCards: 1q44 Microdeletion Syndrome, is also known as monosomy 1q44, and has symptoms including narrow forehead, insterstitial/subtelomeric microdeletion/deletion and dilated cerebral ventricles without hydrocephaly. Affiliated tissues include kidney.

Aliases & Classifications for 1q44 Microdeletion Syndrome

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43NIH Rare Diseases, 49Orphanet, 62UMLS, 26ICD10 via Orphanet
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Classifications:



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(1)(q44) 43 49
chromosome 1q44 microdeletion syndrome 43
chromosome deletion 62


External Ids:

ICD10 via Orphanet26 Q93.5

Symptoms for 1q44 Microdeletion Syndrome

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49Orphanet
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Symptoms:

49 (show all 31)
  • 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
  • strabismus/squint
  • micrognathia/retrognathia/micrognathism/retrognathism
  • 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
  • frontal bossing/prominent forehead

Drugs & Therapeutics for 1q44 Microdeletion Syndrome

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for 1q44 Microdeletion Syndrome

Search NIH Clinical Center for 1q44 Microdeletion Syndrome

Genetic Tests for 1q44 Microdeletion Syndrome

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Anatomical Context for 1q44 Microdeletion Syndrome

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MalaCards organs/tissues related to 1q44 Microdeletion Syndrome:

33
Kidney

Animal Models for 1q44 Microdeletion Syndrome or affiliated genes

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Publications for 1q44 Microdeletion Syndrome

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Variations for 1q44 Microdeletion Syndrome

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Expression for genes affiliated with 1q44 Microdeletion Syndrome

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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

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Compounds for genes affiliated with 1q44 Microdeletion Syndrome

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GO Terms for genes affiliated with 1q44 Microdeletion Syndrome

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Products for genes affiliated with 1q44 Microdeletion Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for 1q44 Microdeletion Syndrome

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet