MCID: 1Q4001
MIFTS: 14

1q44 Microdeletion Syndrome malady

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for 1q44 Microdeletion Syndrome

About this section
Sources:
46NIH Rare Diseases, 52Orphanet, 29ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for 1q44 Microdeletion Syndrome:

Name: 1q44 Microdeletion Syndrome 46 52
Monosomy 1q44 46 52
 
Del(1)(q44) 46 52
Chromosome 1q44 Microdeletion Syndrome 46

Characteristics:

Orphanet epidemiological data:

52
1q44 microdeletion syndrome:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet52 ORPHA238769
ICD10 via Orphanet29 Q93.5

Summaries for 1q44 Microdeletion Syndrome

About this section
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

About this section

Symptoms for 1q44 Microdeletion Syndrome

About this section

Symptoms:

 52 (show all 33)
  • vesicoureteral reflux
  • horseshoe kidney
  • high palate
  • thin vermilion border
  • hydrocephalus
  • microcephaly
  • epicanthus
  • hypertelorism
  • smooth philtrum
  • micrognathia
  • high forehead
  • preauricular skin tag
  • strabismus
  • telecanthus
  • upslanted palpebral fissure
  • synophrys
  • delayed speech and language development
  • muscular hypotonia
  • global developmental delay
  • agenesis of corpus callosum
  • growth delay
  • abnormality of the cardiac septa
  • frontal bossing
  • generalized tonic-clonic seizures
  • ventriculomegaly
  • exaggerated cupid's bow
  • intestinal malrotation
  • scoliosis
  • short stature
  • biparietal narrowing
  • prominent metopic ridge
  • optic disc hypoplasia
  • intellectual disability, severe

HPO human phenotypes related to 1q44 Microdeletion Syndrome:

(show all 29)
id Description Frequency HPO Source Accession
1 thin vermilion border hallmark (90%) HP:0000233
2 seizures hallmark (90%) HP:0001250
3 muscular hypotonia hallmark (90%) HP:0001252
4 neurological speech impairment hallmark (90%) HP:0002167
5 cognitive impairment hallmark (90%) HP:0100543
6 microcephaly typical (50%) HP:0000252
7 abnormality of the philtrum typical (50%) HP:0000288
8 hypertelorism typical (50%) HP:0000316
9 micrognathia typical (50%) HP:0000347
10 strabismus typical (50%) HP:0000486
11 telecanthus typical (50%) HP:0000506
12 upslanted palpebral fissure typical (50%) HP:0000582
13 abnormality of the cardiac septa typical (50%) HP:0001671
14 ventriculomegaly typical (50%) HP:0002119
15 short stature typical (50%) HP:0004322
16 aplasia/hypoplasia of the corpus callosum typical (50%) HP:0007370
17 abnormality of the palate occasional (7.5%) HP:0000174
18 hydrocephalus occasional (7.5%) HP:0000238
19 narrow forehead occasional (7.5%) HP:0000341
20 high forehead occasional (7.5%) HP:0000348
21 preauricular skin tag occasional (7.5%) HP:0000384
22 optic atrophy occasional (7.5%) HP:0000648
23 synophrys occasional (7.5%) HP:0000664
24 frontal bossing occasional (7.5%) HP:0002007
25 intestinal malrotation occasional (7.5%) HP:0002566
26 scoliosis occasional (7.5%) HP:0002650
27 prominent metopic ridge occasional (7.5%) HP:0005487
28 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
29 displacement of the external urethral meatus occasional (7.5%) HP:0100627

Drugs & Therapeutics for 1q44 Microdeletion Syndrome

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for 1q44 Microdeletion Syndrome

Genetic Tests for 1q44 Microdeletion Syndrome

About this section

Anatomical Context for 1q44 Microdeletion Syndrome

About this section

MalaCards organs/tissues related to 1q44 Microdeletion Syndrome:

34
Skin, Kidney

Animal Models for 1q44 Microdeletion Syndrome or affiliated genes

About this section

Publications for 1q44 Microdeletion Syndrome

About this section

Variations for 1q44 Microdeletion Syndrome

About this section

Expression for genes affiliated with 1q44 Microdeletion Syndrome

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

Pathways for genes affiliated with 1q44 Microdeletion Syndrome

About this section

GO Terms for genes affiliated with 1q44 Microdeletion Syndrome

About this section

Sources for 1q44 Microdeletion Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet