MCID: CHR226
MIFTS: 36

Chromosome 1q41-Q42 Deletion Syndrome

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chromosome 1q41-Q42 Deletion Syndrome

MalaCards integrated aliases for Chromosome 1q41-Q42 Deletion Syndrome:

Name: Chromosome 1q41-Q42 Deletion Syndrome 58 12 54 30 13 15
1q41-Q42 Microdeletion Syndrome 12 54
1q41q42 Microdeletion Syndrome 12 60
Holoprosencephaly 10, Included; Hpe10, Included 58
Deletion Syndrome, Chromosome 1q41-Q42 ) 41
Holoprosencephaly 10, Included 58
1q41-Q42 Deletion Syndrome 54
Holoprosencephaly 10 74
Deletion 1q41-Q42 54
Monosomy 1q41-Q42 54
Monosomy 1q41q42 60
Hpe10, Included 58
Del(1)(q41q42) 60

Characteristics:

Orphanet epidemiological data:

60
1q41q42 microdeletion syndrome
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
isolated cases

Miscellaneous:
highly variable phenotype
contiguous gene deletion syndrome
midline defects


HPO:

33
chromosome 1q41-q42 deletion syndrome:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Chromosome 1q41-Q42 Deletion Syndrome

NIH Rare Diseases : 54 Chromosome 1q41-q42 deletionsyndromeis characterized by a small, but variable deletion in a particular place on the long arm of one copy of chromosome 1, usually spanning several genes. There have been variable features described in the literature, and individuals have ranged from being mildly to severely affected. Features may include poor feeding in infancy; developmental delay including delayed or absent speech; and moderate to severe intellectual disability. Other features may include hypotonia; short stature; seizures; heart defects; structural brain anomalies (most commonly underdevelopment of the corpus callosum); genitourinary abnormalities; cleft palate; microcephaly; vision problems; hearing loss; and other abnormalities. Some may have characteristic facial features. Researchers have suggested the features are caused by disruption of at least four genes.

MalaCards based summary : Chromosome 1q41-Q42 Deletion Syndrome, also known as 1q41-q42 microdeletion syndrome, is related to alacrima, achalasia, and mental retardation syndrome, and has symptoms including seizures An important gene associated with Chromosome 1q41-Q42 Deletion Syndrome is DEL1Q41Q42 (Chromosome 1q41-Q42 Deletion Syndrome), and among its related pathways/superpathways are Hedgehog Pathway and MAPK Pathway. Affiliated tissues include brain, heart and eye, and related phenotypes are frontal bossing and intellectual disability

Description from OMIM: 612530

Related Diseases for Chromosome 1q41-Q42 Deletion Syndrome

Diseases related to Chromosome 1q41-Q42 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 10.2

Symptoms & Phenotypes for Chromosome 1q41-Q42 Deletion Syndrome

Human phenotypes related to Chromosome 1q41-Q42 Deletion Syndrome:

60 33 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 60 33 hallmark (90%) Very frequent (99-80%) HP:0002007
2 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
3 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
4 neonatal hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001319
5 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
6 severe global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0011344
7 behavioral abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0000708
8 depressed nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0005280
9 thick vermilion border 60 33 frequent (33%) Frequent (79-30%) HP:0012471
10 talipes equinovarus 60 33 frequent (33%) Frequent (79-30%) HP:0001762
11 underdeveloped nasal alae 60 33 frequent (33%) Frequent (79-30%) HP:0000430
12 deeply set eye 60 33 frequent (33%) Frequent (79-30%) HP:0000490
13 small nail 60 33 frequent (33%) Frequent (79-30%) HP:0001792
14 upslanted palpebral fissure 60 33 frequent (33%) Frequent (79-30%) HP:0000582
15 broad nasal tip 60 33 frequent (33%) Frequent (79-30%) HP:0000455
16 coarse facial features 60 33 occasional (7.5%) Occasional (29-5%) HP:0000280
17 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
18 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
19 hypergonadotropic hypogonadism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000815
20 holoprosencephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001360
21 hypotelorism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000601
22 congenital diaphragmatic hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000776
23 pulmonary hypoplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002089
24 submucous cleft hard palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000176
25 hyposegmentation of neutrophil nuclei 60 33 occasional (7.5%) Occasional (29-5%) HP:0011447
26 abnormality iris morphology 33 occasional (7.5%) HP:0000525
27 global developmental delay 60 33 Very frequent (99-80%) HP:0001263
28 cleft palate 60 33 Occasional (29-5%) HP:0000175
29 microtia 33 HP:0008551
30 microcephaly 33 HP:0000252
31 anteverted nares 33 HP:0000463
32 growth delay 60 Very frequent (99-80%)
33 microphthalmia 33 HP:0000568
34 abnormality of the face 60 Very frequent (99-80%)
35 vertebral segmentation defect 33 HP:0003422
36 abnormality of the genital system 60 Occasional (29-5%)
37 preauricular skin tag 33 HP:0000384
38 cleft upper lip 33 HP:0000204
39 morphological abnormality of the central nervous system 60 Frequent (79-30%)
40 abnormality of the iris 60 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
frontal bossing
microcephaly

Head And Neck Nose:
depressed nasal bridge
anteverted nares

Head And Neck Mouth:
cleft palate

Head And Neck Eyes:
hypotelorism
deep-set eyes
upslanting palpebral fissures

Skeletal Feet:
club feet

Respiratory Lung:
lung hypoplasia in those with diaphragmatic hernia

Neurologic Central Nervous System:
seizures
holoprosencephaly
developmental delay
mental retardation

Growth Height:
short stature

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Face:
coarse facies
dysmorphic features

Chest Diaphragm:
diaphragmatic hernia

Clinical features from OMIM:

612530

UMLS symptoms related to Chromosome 1q41-Q42 Deletion Syndrome:


seizures

GenomeRNAi Phenotypes related to Chromosome 1q41-Q42 Deletion Syndrome according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with c-Myc after tamoxifen stimulation GR00215-A 8.8 DISP1 GSK3B HERC1

MGI Mouse Phenotypes related to Chromosome 1q41-Q42 Deletion Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 8.92 DISP1 GSK3B TLR5 TP53BP2

Drugs & Therapeutics for Chromosome 1q41-Q42 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 1q41-Q42 Deletion Syndrome

Genetic Tests for Chromosome 1q41-Q42 Deletion Syndrome

Genetic tests related to Chromosome 1q41-Q42 Deletion Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 1q41-Q42 Deletion Syndrome 30

Anatomical Context for Chromosome 1q41-Q42 Deletion Syndrome

MalaCards organs/tissues related to Chromosome 1q41-Q42 Deletion Syndrome:

42
Brain, Heart, Eye, Lung, Skin, Neutrophil

Publications for Chromosome 1q41-Q42 Deletion Syndrome

Articles related to Chromosome 1q41-Q42 Deletion Syndrome:

# Title Authors Year
1
ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome. ( 27447114 )
2016
2
Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures. ( 24357076 )
2014
3
New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome. ( 20951845 )
2011

Variations for Chromosome 1q41-Q42 Deletion Syndrome

Expression for Chromosome 1q41-Q42 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 1q41-Q42 Deletion Syndrome.

Pathways for Chromosome 1q41-Q42 Deletion Syndrome

Pathways related to Chromosome 1q41-Q42 Deletion Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.07 DISP1 GSK3B
2
Show member pathways
10.72 GSK3B TLR5

GO Terms for Chromosome 1q41-Q42 Deletion Syndrome

Biological processes related to Chromosome 1q41-Q42 Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of neuron death GO:1901216 8.62 GSK3B TP53BP2

Molecular functions related to Chromosome 1q41-Q42 Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 p53 binding GO:0002039 8.96 GSK3B TP53BP2
2 NF-kappaB binding GO:0051059 8.62 GSK3B TP53BP2

Sources for Chromosome 1q41-Q42 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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