MCID: CHR677
MIFTS: 12

Chromosome 1p35 Deletion Syndrome

Aliases & Classifications for Chromosome 1p35 Deletion Syndrome

MalaCards integrated aliases for Chromosome 1p35 Deletion Syndrome:

Name: Chromosome 1p35 Deletion Syndrome 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
highly variable phenotype


HPO:

33
chromosome 1p35 deletion syndrome:
Onset and clinical course phenotypic variability infantile onset


Summaries for Chromosome 1p35 Deletion Syndrome

MalaCards based summary : Chromosome 1p35 Deletion Syndrome An important gene associated with Chromosome 1p35 Deletion Syndrome is C1DELP35 (Chromosome 1p35 Deletion Syndrome). Affiliated tissues include eye, and related phenotypes are seizures and hypertelorism

Description from OMIM: 617930

Related Diseases for Chromosome 1p35 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 1p35 Deletion Syndrome

Human phenotypes related to Chromosome 1p35 Deletion Syndrome:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 seizures 33 very rare (1%) HP:0001250
2 hypertelorism 33 HP:0000316
3 high palate 33 HP:0000218
4 intellectual disability 33 HP:0001249
5 ataxia 33 HP:0001251
6 dysarthria 33 HP:0001260
7 global developmental delay 33 HP:0001263
8 micrognathia 33 HP:0000347
9 absent speech 33 HP:0001344
10 narrow mouth 33 HP:0000160
11 long face 33 HP:0000276
12 thin upper lip vermilion 33 HP:0000219
13 myopathic facies 33 HP:0002058
14 hypermetropia 33 HP:0000540

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
almond-shaped eyes

Growth Height:
short stature

Genitourinary External Genitalia Male:
cryptorchidism

Head And Neck Mouth:
high-arched palate
small mouth
thin upper lip

Growth Other:
intrauterine growth retardation (in some patients)

Neurologic Central Nervous System:
intellectual disability
ataxia
dysarthria
hypermetropia
delayed psychomotor development
more
Head And Neck Face:
micrognathia
long face
myopathic face
dysmorphic facial features (in some patients)

Head And Neck Nose:
broad nasal bridge

Head And Neck Head:
microcephaly (in some patients)

Head And Neck Ears:
hearing impairment, variable

Clinical features from OMIM:

617930

Drugs & Therapeutics for Chromosome 1p35 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 1p35 Deletion Syndrome

Genetic Tests for Chromosome 1p35 Deletion Syndrome

Anatomical Context for Chromosome 1p35 Deletion Syndrome

MalaCards organs/tissues related to Chromosome 1p35 Deletion Syndrome:

42
Eye

Publications for Chromosome 1p35 Deletion Syndrome

Variations for Chromosome 1p35 Deletion Syndrome

Expression for Chromosome 1p35 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 1p35 Deletion Syndrome.

Pathways for Chromosome 1p35 Deletion Syndrome

GO Terms for Chromosome 1p35 Deletion Syndrome

Sources for Chromosome 1p35 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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