MCID: 1Q4001
MIFTS: 13

1q44 Microdeletion Syndrome malady

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for 1q44 Microdeletion Syndrome

Aliases & Descriptions for 1q44 Microdeletion Syndrome:

Name: 1q44 Microdeletion Syndrome 50 56
Monosomy 1q44 50 56
Del(1)(q44) 50 56
Chromosome 1q44 Microdeletion Syndrome 50

Characteristics:

Orphanet epidemiological data:

56
1q44 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 56 ORPHA238769
ICD10 via Orphanet 34 Q93.5

Summaries for 1q44 Microdeletion Syndrome

MalaCards based summary : 1q44 Microdeletion Syndrome, is also known as monosomy 1q44, and has symptoms including hypertelorism, agenesis of corpus callosum and frontal bossing. 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 hypertelorism 56 32 Frequent (79-30%) HP:0000316
2 agenesis of corpus callosum 56 32 Very frequent (99-80%) HP:0001274
3 frontal bossing 56 32 Occasional (29-5%) HP:0002007
4 high palate 56 32 Occasional (29-5%) HP:0000218
5 hydrocephalus 56 32 Occasional (29-5%) HP:0000238
6 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
7 scoliosis 56 32 Occasional (29-5%) HP:0002650
8 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
9 delayed speech and language development 56 32 Very frequent (99-80%) HP:0000750
10 microcephaly 56 32 Frequent (79-30%) HP:0000252
11 smooth philtrum 56 32 Frequent (79-30%) HP:0000319
12 short stature 56 32 Frequent (79-30%) HP:0004322
13 intellectual disability, severe 56 32 Very frequent (99-80%) HP:0010864
14 micrognathia 56 32 Frequent (79-30%) HP:0000347
15 strabismus 56 32 Frequent (79-30%) HP:0000486
16 epicanthus 56 32 Frequent (79-30%) HP:0000286
17 biparietal narrowing 56 32 Occasional (29-5%) HP:0004422
18 horseshoe kidney 56 32 Occasional (29-5%) HP:0000085
19 generalized tonic-clonic seizures 56 32 Very frequent (99-80%) HP:0002069
20 ventriculomegaly 56 32 Frequent (79-30%) HP:0002119
21 telecanthus 56 32 Frequent (79-30%) HP:0000506
22 upslanted palpebral fissure 56 32 Frequent (79-30%) HP:0000582
23 vesicoureteral reflux 56 32 Occasional (29-5%) HP:0000076
24 intestinal malrotation 56 32 Occasional (29-5%) HP:0002566
25 high forehead 56 32 Occasional (29-5%) HP:0000348
26 abnormality of the cardiac septa 56 32 Frequent (79-30%) HP:0001671
27 thin vermilion border 56 32 Very frequent (99-80%) HP:0000233
28 preauricular skin tag 56 32 Occasional (29-5%) HP:0000384
29 synophrys 56 32 Occasional (29-5%) HP:0000664
30 prominent metopic ridge 56 32 Occasional (29-5%) HP:0005487
31 optic disc hypoplasia 56 32 Occasional (29-5%) HP:0007766
32 exaggerated cupid's bow 56 32 Very frequent (99-80%) HP:0002263
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
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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