MCID: 1Q4001
MIFTS: 16

1q44 Microdeletion Syndrome malady

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

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MalaCards based summary: 1q44 Microdeletion Syndrome, is also known as monosomy 1q44, and has symptoms including thin/retracted lips, hypotonia and seizures/epilepsy/absences/spasms/status epilepticus. Affiliated tissues include kidney.

Aliases & Classifications for 1q44 Microdeletion Syndrome

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Sources:
42NIH Rare Diseases, 48Orphanet, 26ICD10 via Orphanet
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1q44 Microdeletion Syndrome, Aliases & Descriptions:

Name: 1q44 Microdeletion Syndrome 42 48
Monosomy 1q44 42 48
 
Del(1)(q44) 42 48
Chromosome 1q44 Microdeletion Syndrome 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
1q44 microdeletion syndrome:
Inheritance: Sporadic; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

ICD10 via Orphanet26 Q93.5

Symptoms for 1q44 Microdeletion Syndrome

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Symptoms:

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

HPO human phenotypes related to 1q44 Microdeletion Syndrome:

(show all 29)
id Description Frequency HPO Source Accession
1 thin vermilion border hallmark (90%) HP:0000233
2 seizures hallmark (90%) HP:0001250
3 muscular hypotonia hallmark (90%) HP:0001252
4 neurological speech impairment hallmark (90%) HP:0002167
5 cognitive impairment hallmark (90%) HP:0100543
6 microcephaly typical (50%) HP:0000252
7 abnormality of the philtrum typical (50%) HP:0000288
8 hypertelorism typical (50%) HP:0000316
9 micrognathia typical (50%) HP:0000347
10 strabismus typical (50%) HP:0000486
11 telecanthus typical (50%) HP:0000506
12 upslanted palpebral fissure typical (50%) HP:0000582
13 abnormality of the cardiac septa typical (50%) HP:0001671
14 ventriculomegaly typical (50%) HP:0002119
15 short stature typical (50%) HP:0004322
16 aplasia/hypoplasia of the corpus callosum typical (50%) HP:0007370
17 abnormality of the palate occasional (7.5%) HP:0000174
18 hydrocephalus occasional (7.5%) HP:0000238
19 narrow forehead occasional (7.5%) HP:0000341
20 high forehead occasional (7.5%) HP:0000348
21 preauricular skin tag occasional (7.5%) HP:0000384
22 optic atrophy occasional (7.5%) HP:0000648
23 synophrys occasional (7.5%) HP:0000664
24 frontal bossing occasional (7.5%) HP:0002007
25 intestinal malrotation occasional (7.5%) HP:0002566
26 scoliosis occasional (7.5%) HP:0002650
27 prominent metopic ridge occasional (7.5%) HP:0005487
28 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
29 displacement of the external urethral meatus occasional (7.5%) HP:0100627

Drugs & Therapeutics for 1q44 Microdeletion Syndrome

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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:

32
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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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

Sources for 1q44 Microdeletion Syndrome

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet