1q41q42 microdeletion syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: HPE10, INCLUDED
HOLOPROSENCEPHALY 10, INCLUDED
1q41-q42 microdeletion syndrome
Monosomy 1q41-q42
Del(1)(q41q42)
Monosomy 1q41q42
Number of Symptoms 27
OrphanetNr: 250999
OMIM Id: 612530
ICD-10: Q93.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Unknown
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Partial deletion of the long arm of chromosome 1
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0000252) Microcephaly 832 / 7739
3
 (HPO:0005280) Depressed nasal bridge 381 / 7739
4
 (HPO:0000490) Deeply set eye 131 / 7739
5
 (HPO:0000568) Microphthalmia 183 / 7739
6
 (HPO:0000601) Hypotelorism 83 / 7739
7
 (HPO:0000463) Anteverted nares 305 / 7739
8
 (HPO:0000204) Cleft upper lip 193 / 7739
9
 (HPO:0000582) Upslanted palpebral fissure 185 / 7739
10
 (HPO:0002007) Frontal bossing 366 / 7739
11
 (HPO:0000280) Coarse facial features 189 / 7739
12
 (HPO:0000175) Cleft palate 349 / 7739
13
 (HPO:0008551) Microtia 98 / 7739
14
 (HPO:0000384) Preauricular skin tag 62 / 7739
15
 (HPO:0001249) Intellectual disability 1089 / 7739
16
 (HPO:0001263) Global developmental delay 853 / 7739
17
 (HPO:0001250) Seizures 1245 / 7739
18
 (HPO:0001762) Talipes equinovarus 309 / 7739
19
 (HPO:0003422) Vertebral segmentation defect 95 / 7739
20
 (HPO:0000776) Congenital diaphragmatic hernia 36 / 7739
21
 (HPO:0004322) Short stature 1232 / 7739
22
 (OMIM) Contiguous gene deletion syndrome 23 / 7739
23
 (OMIM) Dysmorphic features 6 / 7739
24
 (HPO:0001360) Holoprosencephaly 29 / 7739
25
 (OMIM) Lung hypoplasia in those with diaphragmatic hernia 1 / 7739
26
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
27
 (HPO:0003812) Phenotypic variability 129 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Shaffer et al. (2007) reported 7 unrelated patients with heterozygous deletion of chromosome 1q41-q42. Common clinical features included significant developmental delay and distinct facial dysmorphism, such as frontal bossing, deep-set eyes, broad nasal tip, depressed nasal bridge, and ...
Molecular genetics OMIM In 2 unrelated girls with microforms of holoprosencephaly, Roessler et al. (2009) identified 2 different heterozygous truncating variants in the DISP1 gene: trp475-to-ter (W475X) and tyr734-to-ter (Y734X), respectively. However, each patient inherited the variant allele from an unaffected ...