MCID: 1Q4001
MIFTS: 18

1q44 Microdeletion Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for 1q44 Microdeletion Syndrome

MalaCards integrated aliases for 1q44 Microdeletion Syndrome:

Name: 1q44 Microdeletion Syndrome 20 58
Monosomy 1q44 20 58
Del(1)(q44) 20 58
Chromosome 1q44 Microdeletion Syndrome 20

Characteristics:

Orphanet epidemiological data:

58
1q44 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for 1q44 Microdeletion Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 238769 Definition 1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia. Epidemiology It has been reported in four unrelated patients. Clinical description The most common facial features include microcephaly, hypertelorism and thin upper lip. An abnormal corpus callosum (agenesis, hypogenesis or slightly reduced thickness) is observed in all affected patients. Etiology This microdeletion was identified by array CGH (comparative genomic hybridization ).

MalaCards based summary : 1q44 Microdeletion Syndrome, is also known as monosomy 1q44. An important gene associated with 1q44 Microdeletion Syndrome is HNRNPU (Heterogeneous Nuclear Ribonucleoprotein U). Affiliated tissues include kidney, and related phenotypes are agenesis of corpus callosum and global developmental delay

Related Diseases for 1q44 Microdeletion Syndrome

Symptoms & Phenotypes for 1q44 Microdeletion Syndrome

Human phenotypes related to 1q44 Microdeletion Syndrome:

58 31 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 58 31 hallmark (90%) Very frequent (99-80%) HP:0001274
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
4 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
5 thin vermilion border 58 31 hallmark (90%) Very frequent (99-80%) HP:0000233
6 exaggerated cupid's bow 58 31 hallmark (90%) Very frequent (99-80%) HP:0002263
7 hypotonia 31 hallmark (90%) HP:0001252
8 bilateral tonic-clonic seizure 31 hallmark (90%) HP:0002069
9 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
10 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
11 smooth philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000319
12 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
13 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
14 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
15 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
16 upslanted palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000582
17 abnormal cardiac septum morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001671
18 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
19 telecanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000506
20 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
21 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
22 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
23 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
24 biparietal narrowing 58 31 occasional (7.5%) Occasional (29-5%) HP:0004422
25 horseshoe kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000085
26 vesicoureteral reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0000076
27 preauricular skin tag 58 31 occasional (7.5%) Occasional (29-5%) HP:0000384
28 intestinal malrotation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002566
29 high forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000348
30 synophrys 58 31 occasional (7.5%) Occasional (29-5%) HP:0000664
31 prominent metopic ridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005487
32 optic disc hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007766
33 muscular hypotonia 58 Very frequent (99-80%)
34 growth delay 58 Frequent (79-30%)
35 generalized tonic-clonic seizures 58 Very frequent (99-80%)

Drugs & Therapeutics for 1q44 Microdeletion Syndrome

Search Clinical Trials , NIH Clinical Center for 1q44 Microdeletion Syndrome

Genetic Tests for 1q44 Microdeletion Syndrome

Anatomical Context for 1q44 Microdeletion Syndrome

MalaCards organs/tissues related to 1q44 Microdeletion Syndrome:

40
Kidney

Publications for 1q44 Microdeletion Syndrome

Articles related to 1q44 Microdeletion Syndrome:

# Title Authors PMID Year
1
Hemiconvulsion-hemiplegia-epilepsy syndrome with 1q44 microdeletion: causal or chance association. 61
24214579 2014
2
A 54 Mb 11qter duplication and 0.9 Mb 1q44 deletion in a child with laryngomalacia and agenesis of corpus callosum. 61
21936942 2011

Variations for 1q44 Microdeletion Syndrome

Expression for 1q44 Microdeletion Syndrome

Search GEO for disease gene expression data for 1q44 Microdeletion Syndrome.

Pathways for 1q44 Microdeletion Syndrome

GO Terms for 1q44 Microdeletion Syndrome

Sources for 1q44 Microdeletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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