MCID: 1Q4001
MIFTS: 20

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 49 55
Monosomy 1q44 49 55
Del(1)(q44) 49 55
Chromosome 1q44 Microdeletion Syndrome 49

Characteristics:

Orphanet epidemiological data:

55
1q44 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



Summaries for 1q44 Microdeletion Syndrome

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Chromosome 1q deletion.

MalaCards based summary : 1q44 Microdeletion Syndrome, is also known as monosomy 1q44, and has symptoms including vesicoureteral reflux, horseshoe kidney and high palate. An important gene associated with 1q44 Microdeletion Syndrome is HNRNPU (Heterogeneous Nuclear Ribonucleoprotein U). Affiliated tissues include skin and kidney.

Related Diseases for 1q44 Microdeletion Syndrome

Symptoms & Phenotypes for 1q44 Microdeletion Syndrome

Human phenotypes related to 1q44 Microdeletion Syndrome:

55 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 vesicoureteral reflux 55 31 occasional (7.5%) Occasional (29-5%) HP:0000076
2 horseshoe kidney 55 31 occasional (7.5%) Occasional (29-5%) HP:0000085
3 high palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000218
4 thin vermilion border 55 31 hallmark (90%) Very frequent (99-80%) HP:0000233
5 hydrocephalus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000238
6 microcephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000252
7 epicanthus 55 31 frequent (33%) Frequent (79-30%) HP:0000286
8 hypertelorism 55 31 frequent (33%) Frequent (79-30%) HP:0000316
9 smooth philtrum 55 31 frequent (33%) Frequent (79-30%) HP:0000319
10 micrognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000347
11 high forehead 55 31 occasional (7.5%) Occasional (29-5%) HP:0000348
12 preauricular skin tag 55 31 occasional (7.5%) Occasional (29-5%) HP:0000384
13 strabismus 55 31 frequent (33%) Frequent (79-30%) HP:0000486
14 telecanthus 55 31 frequent (33%) Frequent (79-30%) HP:0000506
15 upslanted palpebral fissure 55 31 frequent (33%) Frequent (79-30%) HP:0000582
16 synophrys 55 31 occasional (7.5%) Occasional (29-5%) HP:0000664
17 delayed speech and language development 55 31 hallmark (90%) Very frequent (99-80%) HP:0000750
18 muscular hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001252
19 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
20 agenesis of corpus callosum 55 31 hallmark (90%) Very frequent (99-80%) HP:0001274
21 frontal bossing 55 31 occasional (7.5%) Occasional (29-5%) HP:0002007
22 generalized tonic-clonic seizures 55 31 hallmark (90%) Very frequent (99-80%) HP:0002069
23 ventriculomegaly 55 31 frequent (33%) Frequent (79-30%) HP:0002119
24 exaggerated cupid's bow 55 31 hallmark (90%) Very frequent (99-80%) HP:0002263
25 intestinal malrotation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002566
26 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
27 short stature 55 31 frequent (33%) Frequent (79-30%) HP:0004322
28 biparietal narrowing 55 31 occasional (7.5%) Occasional (29-5%) HP:0004422
29 prominent metopic ridge 55 31 occasional (7.5%) Occasional (29-5%) HP:0005487
30 optic disc hypoplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0007766
31 intellectual disability, severe 55 31 hallmark (90%) Very frequent (99-80%) HP:0010864
32 growth delay 55 Frequent (79-30%)
33 abnormality of the cardiac septa 55 Frequent (79-30%)
34 abnormal cardiac septum morphology 31 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:

38
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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