MCID: 1Q4001
MIFTS: 18

1q44 Microdeletion Syndrome

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for 1q44 Microdeletion Syndrome

Summaries for 1q44 Microdeletion Syndrome

NIH Rare Diseases : 50 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:

56 32 (show all 33)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 vesicoureteral reflux 56 32 occasional (7.5%) Occasional (29-5%) HP:0000076
2 horseshoe kidney 56 32 occasional (7.5%) Occasional (29-5%) HP:0000085
3 high palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000218
4 thin vermilion border 56 32 hallmark (90%) Very frequent (99-80%) HP:0000233
5 hydrocephalus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000238
6 microcephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000252
7 epicanthus 56 32 frequent (33%) Frequent (79-30%) HP:0000286
8 hypertelorism 56 32 frequent (33%) Frequent (79-30%) HP:0000316
9 smooth philtrum 56 32 frequent (33%) Frequent (79-30%) HP:0000319
10 micrognathia 56 32 frequent (33%) Frequent (79-30%) HP:0000347
11 high forehead 56 32 occasional (7.5%) Occasional (29-5%) HP:0000348
12 preauricular skin tag 56 32 occasional (7.5%) Occasional (29-5%) HP:0000384
13 strabismus 56 32 frequent (33%) Frequent (79-30%) HP:0000486
14 telecanthus 56 32 frequent (33%) Frequent (79-30%) HP:0000506
15 upslanted palpebral fissure 56 32 frequent (33%) Frequent (79-30%) HP:0000582
16 synophrys 56 32 occasional (7.5%) Occasional (29-5%) HP:0000664
17 delayed speech and language development 56 32 hallmark (90%) Very frequent (99-80%) HP:0000750
18 muscular hypotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001252
19 global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001263
20 agenesis of corpus callosum 56 32 hallmark (90%) Very frequent (99-80%) HP:0001274
21 abnormality of the cardiac septa 56 32 frequent (33%) Frequent (79-30%) HP:0001671
22 frontal bossing 56 32 occasional (7.5%) Occasional (29-5%) HP:0002007
23 generalized tonic-clonic seizures 56 32 hallmark (90%) Very frequent (99-80%) HP:0002069
24 ventriculomegaly 56 32 frequent (33%) Frequent (79-30%) HP:0002119
25 exaggerated cupid's bow 56 32 hallmark (90%) Very frequent (99-80%) HP:0002263
26 intestinal malrotation 56 32 occasional (7.5%) Occasional (29-5%) HP:0002566
27 scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002650
28 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
29 biparietal narrowing 56 32 occasional (7.5%) Occasional (29-5%) HP:0004422
30 prominent metopic ridge 56 32 occasional (7.5%) Occasional (29-5%) HP:0005487
31 optic disc hypoplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0007766
32 intellectual disability, severe 56 32 hallmark (90%) Very frequent (99-80%) HP:0010864
33 growth delay 56 Frequent (79-30%)

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:

39
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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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