MCID: 1Q4001
MIFTS: 19

1q44 Microdeletion Syndrome

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for 1q44 Microdeletion Syndrome

MalaCards integrated aliases for 1q44 Microdeletion Syndrome:

Name: 1q44 Microdeletion Syndrome 53 59
Monosomy 1q44 53 59
Del(1)(q44) 53 59
Chromosome 1q44 Microdeletion Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
1q44 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



Summaries for 1q44 Microdeletion Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 238769Disease definition1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.EpidemiologyIt has been reported in four unrelated patients.Clinical descriptionThe 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.EtiologyThis microdeletion was identified by array CGH (comparative genomic hybridization).Visit the Orphanet disease page for more resources.

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 skin and kidney, and related phenotypes are vesicoureteral reflux and horseshoe kidney

Related Diseases for 1q44 Microdeletion Syndrome

Symptoms & Phenotypes for 1q44 Microdeletion Syndrome

Human phenotypes related to 1q44 Microdeletion Syndrome:

59 32 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 vesicoureteral reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0000076
2 horseshoe kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0000085
3 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
4 thin vermilion border 59 32 hallmark (90%) Very frequent (99-80%) HP:0000233
5 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
6 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
7 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
8 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
9 smooth philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000319
10 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
11 high forehead 59 32 occasional (7.5%) Occasional (29-5%) HP:0000348
12 preauricular skin tag 59 32 occasional (7.5%) Occasional (29-5%) HP:0000384
13 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
14 telecanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000506
15 upslanted palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0000582
16 synophrys 59 32 occasional (7.5%) Occasional (29-5%) HP:0000664
17 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
18 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
19 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
20 agenesis of corpus callosum 59 32 hallmark (90%) Very frequent (99-80%) HP:0001274
21 frontal bossing 59 32 occasional (7.5%) Occasional (29-5%) HP:0002007
22 generalized tonic-clonic seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002069
23 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002119
24 exaggerated cupid's bow 59 32 hallmark (90%) Very frequent (99-80%) HP:0002263
25 intestinal malrotation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002566
26 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
27 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
28 biparietal narrowing 59 32 occasional (7.5%) Occasional (29-5%) HP:0004422
29 prominent metopic ridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0005487
30 optic disc hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0007766
31 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
32 growth delay 59 Frequent (79-30%)
33 abnormality of the cardiac septa 59 Frequent (79-30%)
34 abnormal cardiac septum morphology 32 frequent (33%) HP:0001671

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:

41
Skin, Kidney

Publications for 1q44 Microdeletion Syndrome

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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