MCID: 1Q4001
MIFTS: 15

1q44 Microdeletion Syndrome malady

Rare diseases, Fetal diseases categories

Aliases & Classifications for 1q44 Microdeletion Syndrome

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Sources:
45NIH Rare Diseases, 51Orphanet, 28ICD10 via Orphanet
See all sources

Aliases & Descriptions for 1q44 Microdeletion Syndrome:

Name: 1q44 Microdeletion Syndrome 45 51
Monosomy 1q44 45 51
 
Del(1)(q44) 45 51
Chromosome 1q44 Microdeletion Syndrome 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
1q44 microdeletion syndrome:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

Orphanet51 238769
ICD10 via Orphanet28 Q93.5

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 vermilion border, seizures and muscular hypotonia. Affiliated tissues include skin and kidney.

Related Diseases for 1q44 Microdeletion Syndrome

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Symptoms for 1q44 Microdeletion Syndrome

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Symptoms:

 51 (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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Interventional clinical trials:

Search ClinicalTrials, 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
Skin, 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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GO Terms for genes affiliated with 1q44 Microdeletion Syndrome

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Sources for 1q44 Microdeletion Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet