Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandAbnormalities, Multiple (D000015)
Parent Node:
expandChromosome Deletion (D002872)
Parent Node:
expandMegalencephaly (D058627)
..Starting node
..expandChromosome 1q21.1 Deletion Syndrome, 1.35-Mb (C567291)

       Child Nodes:



 Sister Nodes: 
..expandBagatelle Cassidy syndrome (C537796)
..expandChromosome 1q21.1 Deletion Syndrome, 1.35-Mb (C567291)
..expandEhlers-Danlos Syndrome VI Phenotype with Macrocephaly (C565563)
..expandFacial Abnormalities, Kyphoscoliosis, and Mental Retardation (C565580)
..expandFryns Macrocephaly (C563963)
..expandHemimegalencephaly (D065705) Child1
..expandKniest like dysplasia lethal (C537208)
..expandMacrocephaly Autism Syndrome (C565342)
..expandMacrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies (C564621)
..expandMacrocephaly, Alopecia, Cutis Laxa, and Scoliosis (C567770)
..expandMacrocephaly, benign familial (C537717)
..expandMacrosomia obesity macrocephaly ocular abnormalities (C535812)
..expandMegalencephaly cutis marmorata telangiectatica congenita (C536142)
..expandMegalencephaly with Dysmyelination (C565408)
..expandMental retardation, macrocephaly, short stature and craniofacial dysmorphism (C537453)
..expandMental Retardation, X-Linked 93 (C567066)
..expandMental Retardation, X-Linked, Syndromic, Turner Type (C567476)
..expandNeuhauser syndrome (C536143)
..expandPectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails (C563941)
..expandPolyhydramnios, Megalencephaly, And Symptomatic Epilepsy (C567020)
..expandVater Association With Hydrocephalus (C564752)
..expandZori Stalker Williams syndrome (C536728)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:2253
Name:Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb
Definition:
Alternative IDs:
ParentIDs:MESH:D000015|MESH:D002872|MESH:D058627
TreeNumbers:C05.660.207.536/C567291 |C10.500.507.400.249/C567291 |C16.131.077/C567291 |C16.131.621.207.532/C567291 |C16.131.666.507.400.249/C567291 |C23.550.210.050.500.500/C567291
Synonyms:1q21.1 Contiguous Gene Deletion |1q21.1 Deletion |1q21.1 Microdeletion |Chromosome 1q21.1 Deletion Syndrome
Slim Mappings:Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (process)
Reference: MedGen: C567291
MeSH: C567291
OMIM: 612474;

Genes: AF8T;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000717Autism
3 HP:0010055Broad hallux
4 HP:0011304Broad thumb
5 HP:0000414Bulbous nose
6 HP:0001680Coarctation of aorta
7 HP:0000490Deeply set eye
8 HP:0002007Frontal bossing
9 HP:0003829Incomplete penetrance
10 HP:0001249Intellectual disability
11 HP:0000252Microcephaly
12 HP:0001643Patent ductus arteriosus
13 HP:0100753Schizophrenia
14 HP:0003745Sporadic
15 HP:0001669Transposition of the great arteries
16 HP:0001660Truncus arteriosus
Disease Causing ClinVar Variants