MCID: 1Q4001
MIFTS: 13

1q44 Microdeletion Syndrome malady

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for 1q44 Microdeletion Syndrome

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Sources:
31ICD10 via Orphanet, 48NIH Rare Diseases, 54Orphanet
See all MalaCards sources

Aliases & Descriptions for 1q44 Microdeletion Syndrome:

Name: 1q44 Microdeletion Syndrome 48 54
Monosomy 1q44 48 54
 
Del(1)(q44) 48 54
Chromosome 1q44 Microdeletion Syndrome 48

Characteristics:

Orphanet epidemiological data:

54
1q44 microdeletion syndrome:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet54 ORPHA238769
ICD10 via Orphanet31 Q93.5

Summaries for 1q44 Microdeletion Syndrome

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MalaCards based summary: 1q44 Microdeletion Syndrome, is also known as monosomy 1q44, and has symptoms including thin vermilion border, seizures and muscular hypotonia. Affiliated tissues include skin and kidney.

Related Diseases for 1q44 Microdeletion Syndrome

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Symptoms & Phenotypes for 1q44 Microdeletion Syndrome

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Human phenotypes related to 1q44 Microdeletion Syndrome:

 64 54 (show all 43)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thin vermilion border64 54 hallmark (90%) Very frequent (99-80%) HP:0000233
2 seizures64 hallmark (90%) HP:0001250
3 muscular hypotonia64 54 hallmark (90%) Very frequent (99-80%) HP:0001252
4 neurological speech impairment64 hallmark (90%) HP:0002167
5 cognitive impairment64 hallmark (90%) HP:0100543
6 microcephaly64 54 typical (50%) Frequent (79-30%) HP:0000252
7 abnormality of the philtrum64 typical (50%) HP:0000288
8 hypertelorism64 54 typical (50%) Frequent (79-30%) HP:0000316
9 micrognathia64 54 typical (50%) Frequent (79-30%) HP:0000347
10 strabismus64 54 typical (50%) Frequent (79-30%) HP:0000486
11 telecanthus64 54 typical (50%) Frequent (79-30%) HP:0000506
12 upslanted palpebral fissure64 54 typical (50%) Frequent (79-30%) HP:0000582
13 abnormality of the cardiac septa64 54 typical (50%) Frequent (79-30%) HP:0001671
14 ventriculomegaly64 54 typical (50%) Frequent (79-30%) HP:0002119
15 short stature64 54 typical (50%) Frequent (79-30%) HP:0004322
16 aplasia/hypoplasia of the corpus callosum64 typical (50%) HP:0007370
17 abnormality of the palate64 occasional (7.5%) HP:0000174
18 hydrocephalus64 54 occasional (7.5%) Occasional (29-5%) HP:0000238
19 narrow forehead64 occasional (7.5%) HP:0000341
20 high forehead64 54 occasional (7.5%) Occasional (29-5%) HP:0000348
21 preauricular skin tag64 54 occasional (7.5%) Occasional (29-5%) HP:0000384
22 optic atrophy64 occasional (7.5%) HP:0000648
23 synophrys64 54 occasional (7.5%) Occasional (29-5%) HP:0000664
24 frontal bossing64 54 occasional (7.5%) Occasional (29-5%) HP:0002007
25 intestinal malrotation64 54 occasional (7.5%) Occasional (29-5%) HP:0002566
26 scoliosis64 54 occasional (7.5%) Occasional (29-5%) HP:0002650
27 prominent metopic ridge64 54 occasional (7.5%) Occasional (29-5%) HP:0005487
28 renal hypoplasia/aplasia64 occasional (7.5%) HP:0008678
29 displacement of the external urethral meatus64 occasional (7.5%) HP:0100627
30 vesicoureteral reflux54 Occasional (29-5%)
31 horseshoe kidney54 Occasional (29-5%)
32 high palate54 Occasional (29-5%)
33 epicanthus54 Frequent (79-30%)
34 smooth philtrum54 Frequent (79-30%)
35 delayed speech and language development54 Very frequent (99-80%)
36 global developmental delay54 Very frequent (99-80%)
37 agenesis of corpus callosum54 Very frequent (99-80%)
38 growth delay54 Frequent (79-30%)
39 generalized tonic-clonic seizures54 Very frequent (99-80%)
40 exaggerated cupid's bow54 Very frequent (99-80%)
41 biparietal narrowing54 Occasional (29-5%)
42 optic disc hypoplasia54 Occasional (29-5%)
43 intellectual disability, severe54 Very frequent (99-80%)

Drugs & Therapeutics for 1q44 Microdeletion Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for 1q44 Microdeletion Syndrome

Genetic Tests for 1q44 Microdeletion Syndrome

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Anatomical Context for 1q44 Microdeletion Syndrome

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MalaCards organs/tissues related to 1q44 Microdeletion Syndrome:

36
Skin, Kidney

Publications for 1q44 Microdeletion Syndrome

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Variations for 1q44 Microdeletion Syndrome

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Expression for genes affiliated with 1q44 Microdeletion Syndrome

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

Pathways for genes affiliated with 1q44 Microdeletion Syndrome

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GO Terms for genes affiliated with 1q44 Microdeletion Syndrome

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Sources for 1q44 Microdeletion Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet