MCID: CHR226
MIFTS: 35

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 57 12 53 29 13 15
1q41-Q42 Microdeletion Syndrome 12 53
1q41q42 Microdeletion Syndrome 12 59
Holoprosencephaly 10, Included; Hpe10, Included 57
Deletion Syndrome, Chromosome 1q41-Q42 40
Holoprosencephaly 10, Included 57
1q41-Q42 Deletion Syndrome 53
Holoprosencephaly 10 72
Deletion 1q41-Q42 53
Monosomy 1q41-Q42 53
Monosomy 1q41q42 59
Hpe10, Included 57
Del(1)(q41q42) 59

Characteristics:

Orphanet epidemiological data:

59
1q41q42 microdeletion syndrome
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
isolated cases

Miscellaneous:
highly variable phenotype
contiguous gene deletion syndrome
midline defects


HPO:

32
chromosome 1q41-q42 deletion syndrome:
Inheritance autosomal dominant inheritance sporadic


Classifications:



External Ids:

Disease Ontology 12 DOID:0060412
ICD10 33 Q93.5
ICD10 via Orphanet 34 Q93.5
Orphanet 59 ORPHA250999
MedGen 42 C2675857
UMLS 72 C2675857

Summaries for Chromosome 1q41-Q42 Deletion Syndrome

NIH Rare Diseases : 53 Chromosome 1q41-q42 deletion syndrome is 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 wdr26-related intellectual disability and cleft palate, isolated, 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 is MAPK Pathway. Affiliated tissues include brain, heart and eye, and related phenotypes are frontal bossing and intellectual disability

More information from OMIM: 612530 PS236100

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:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 wdr26-related intellectual disability 10.5
2 cleft palate, isolated 10.3
3 diaphragmatic hernia, congenital 10.3
4 fryns syndrome 10.3
5 alacrima, achalasia, and mental retardation syndrome 10.3
6 coloboma of macula 10.2
7 pelger-huet anomaly 10.2
8 neural tube defects 10.2
9 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.2
10 microphthalmia 10.2
11 visual epilepsy 10.2
12 holoprosencephaly 10.2
13 cleft lip 10.2
14 seizure disorder 10.2

Graphical network of the top 20 diseases related to Chromosome 1q41-Q42 Deletion Syndrome:



Diseases related to Chromosome 1q41-Q42 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 1q41-Q42 Deletion Syndrome

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

59 32 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
4 neonatal hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001319
5 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
6 severe global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0011344
7 behavioral abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0000708
8 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
9 thick vermilion border 59 32 frequent (33%) Frequent (79-30%) HP:0012471
10 broad nasal tip 59 32 frequent (33%) Frequent (79-30%) HP:0000455
11 talipes equinovarus 59 32 frequent (33%) Frequent (79-30%) HP:0001762
12 underdeveloped nasal alae 59 32 frequent (33%) Frequent (79-30%) HP:0000430
13 deeply set eye 59 32 frequent (33%) Frequent (79-30%) HP:0000490
14 small nail 59 32 frequent (33%) Frequent (79-30%) HP:0001792
15 upslanted palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0000582
16 coarse facial features 59 32 occasional (7.5%) Occasional (29-5%) HP:0000280
17 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
18 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
19 hypergonadotropic hypogonadism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000815
20 holoprosencephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001360
21 congenital diaphragmatic hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000776
22 hypotelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000601
23 pulmonary hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002089
24 submucous cleft hard palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000176
25 abnormality iris morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0000525
26 hyposegmentation of neutrophil nuclei 59 32 occasional (7.5%) Occasional (29-5%) HP:0011447
27 global developmental delay 59 32 Very frequent (99-80%) HP:0001263
28 cleft palate 59 32 Occasional (29-5%) HP:0000175
29 microtia 32 HP:0008551
30 microcephaly 32 HP:0000252
31 anteverted nares 32 HP:0000463
32 growth delay 59 Very frequent (99-80%)
33 microphthalmia 32 HP:0000568
34 abnormality of the face 59 Very frequent (99-80%)
35 cleft upper lip 32 HP:0000204
36 preauricular skin tag 32 HP:0000384
37 vertebral segmentation defect 32 HP:0003422
38 abnormality of the genital system 59 Occasional (29-5%)
39 morphological abnormality of the central nervous system 59 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

57
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:

26
# 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:

46
# 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 29

Anatomical Context for Chromosome 1q41-Q42 Deletion Syndrome

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

41
Brain, Heart, Eye, Lung, Skin, Neutrophil

Publications for Chromosome 1q41-Q42 Deletion Syndrome

Articles related to Chromosome 1q41-Q42 Deletion Syndrome:

(show all 12)
# Title Authors PMID Year
1
Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia. 8
21525063 2011
2
Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH. 8
20799323 2010
3
Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome. 8
20358614 2010
4
Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans. 8
19184110 2009
5
The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome. 8
17873649 2007
6
Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2. 8
16736036 2006
7
Holoprosencephaly Overview 71
20301702 2000
8
Holoprosencephaly: a paradigm for the complex genetics of brain development. 8
9728329 1998
9
Fryns syndrome survivors and neurologic outcome. 8
8599357 1995
10
Severe microphthalmia, diaphragmatic hernia and Fallot's tetralogy associated with a chromosome 1;15 translocation. 8
7894732 1994
11
Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures. 6
24357076 2014
12
A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype. 38
30160831 2018

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
10.72 TLR5 GSK3B

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 TP53BP2 GSK3B

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 TP53BP2 GSK3B
2 NF-kappaB binding GO:0051059 8.62 TP53BP2 GSK3B

Sources for Chromosome 1q41-Q42 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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