MCID: 1Q4001
MIFTS: 13

1q44 Microdeletion Syndrome malady

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for 1q44 Microdeletion Syndrome

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Sources:
30ICD10 via Orphanet, 47NIH Rare Diseases, 53Orphanet
See all MalaCards sources

Aliases & Descriptions for 1q44 Microdeletion Syndrome:

Name: 1q44 Microdeletion Syndrome 47 53
Monosomy 1q44 47 53
 
Del(1)(q44) 47 53
Chromosome 1q44 Microdeletion Syndrome 47

Characteristics:

Orphanet epidemiological data:

53
1q44 microdeletion syndrome:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet53 ORPHA238769
ICD10 via Orphanet30 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 for 1q44 Microdeletion Syndrome

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Human phenotypes related to 1q44 Microdeletion Syndrome:

 63 53 (show all 43)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thin vermilion border63 53 hallmark (90%) Very frequent (99-80%) HP:0000233
2 seizures63 hallmark (90%) HP:0001250
3 muscular hypotonia63 53 hallmark (90%) Very frequent (99-80%) HP:0001252
4 neurological speech impairment63 hallmark (90%) HP:0002167
5 cognitive impairment63 hallmark (90%) HP:0100543
6 microcephaly63 53 typical (50%) Frequent (79-30%) HP:0000252
7 abnormality of the philtrum63 typical (50%) HP:0000288
8 hypertelorism63 53 typical (50%) Frequent (79-30%) HP:0000316
9 micrognathia63 53 typical (50%) Frequent (79-30%) HP:0000347
10 strabismus63 53 typical (50%) Frequent (79-30%) HP:0000486
11 telecanthus63 53 typical (50%) Frequent (79-30%) HP:0000506
12 upslanted palpebral fissure63 53 typical (50%) Frequent (79-30%) HP:0000582
13 abnormality of the cardiac septa63 53 typical (50%) Frequent (79-30%) HP:0001671
14 ventriculomegaly63 53 typical (50%) Frequent (79-30%) HP:0002119
15 short stature63 53 typical (50%) Frequent (79-30%) HP:0004322
16 aplasia/hypoplasia of the corpus callosum63 typical (50%) HP:0007370
17 abnormality of the palate63 occasional (7.5%) HP:0000174
18 hydrocephalus63 53 occasional (7.5%) Occasional (29-5%) HP:0000238
19 narrow forehead63 occasional (7.5%) HP:0000341
20 high forehead63 53 occasional (7.5%) Occasional (29-5%) HP:0000348
21 preauricular skin tag63 53 occasional (7.5%) Occasional (29-5%) HP:0000384
22 optic atrophy63 occasional (7.5%) HP:0000648
23 synophrys63 53 occasional (7.5%) Occasional (29-5%) HP:0000664
24 frontal bossing63 53 occasional (7.5%) Occasional (29-5%) HP:0002007
25 intestinal malrotation63 53 occasional (7.5%) Occasional (29-5%) HP:0002566
26 scoliosis63 53 occasional (7.5%) Occasional (29-5%) HP:0002650
27 prominent metopic ridge63 53 occasional (7.5%) Occasional (29-5%) HP:0005487
28 renal hypoplasia/aplasia63 occasional (7.5%) HP:0008678
29 displacement of the external urethral meatus63 occasional (7.5%) HP:0100627
30 vesicoureteral reflux53 Occasional (29-5%)
31 horseshoe kidney53 Occasional (29-5%)
32 high palate53 Occasional (29-5%)
33 epicanthus53 Frequent (79-30%)
34 smooth philtrum53 Frequent (79-30%)
35 delayed speech and language development53 Very frequent (99-80%)
36 global developmental delay53 Very frequent (99-80%)
37 agenesis of corpus callosum53 Very frequent (99-80%)
38 growth delay53 Frequent (79-30%)
39 generalized tonic-clonic seizures53 Very frequent (99-80%)
40 exaggerated cupid's bow53 Very frequent (99-80%)
41 biparietal narrowing53 Occasional (29-5%)
42 optic disc hypoplasia53 Occasional (29-5%)
43 intellectual disability, severe53 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:

35
Skin, Kidney

Animal Models for 1q44 Microdeletion Syndrome or affiliated genes

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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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet