DELMNES
MCID: DLP001
MIFTS: 15

Delpire-Mcneill Syndrome (DELMNES)

Categories: Genetic diseases

Aliases & Classifications for Delpire-Mcneill Syndrome

MalaCards integrated aliases for Delpire-Mcneill Syndrome:

Name: Delpire-Mcneill Syndrome 57 6
Delmnes 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
highly variable phenotype
de novo mutation
highly variable manifestations


HPO:

31
delpire-mcneill syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Delpire-Mcneill Syndrome

OMIM® : 57 Delpire-McNeill syndrome (DELMNES) is a neurodevelopmental disorder with highly variable manifestations. Patients present in infancy with global developmental delay, including motor, speech, and impaired intellectual development. The most severely affected patients have hypotonia, inability to hold their head or walk, bilateral sensorineural deafness, and absent language, whereas others have delayed walking and mild to moderate intellectual disability, often with speech delay and autistic features. More variable features may include spasticity or minor involvement of other organ systems, such as hip dislocation or ventricular septal defect (summary by McNeill et al., 2020). (619083) (Updated 05-Mar-2021)

MalaCards based summary : Delpire-Mcneill Syndrome, is also known as delmnes. An important gene associated with Delpire-Mcneill Syndrome is SLC12A2 (Solute Carrier Family 12 Member 2). Related phenotypes are global developmental delay and tracheoesophageal fistula

Related Diseases for Delpire-Mcneill Syndrome

Symptoms & Phenotypes for Delpire-Mcneill Syndrome

Human phenotypes related to Delpire-Mcneill Syndrome:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 very rare (1%) HP:0001263
2 tracheoesophageal fistula 31 very rare (1%) HP:0002575
3 ventricular septal defect 31 very rare (1%) HP:0001629
4 autistic behavior 31 very rare (1%) HP:0000729
5 bilateral sensorineural hearing impairment 31 very rare (1%) HP:0008619
6 spasticity 31 HP:0001257
7 agenesis of corpus callosum 31 HP:0001274
8 dysphagia 31 HP:0002015
9 absent speech 31 HP:0001344
10 hip dislocation 31 HP:0002827
11 generalized hypotonia 31 HP:0001290
12 cortical dysplasia 31 HP:0002539
13 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
spasticity
hypertonia
absent speech
motor delay
inability to walk
more
Abdomen Gastrointestinal:
feeding difficulties (patient b)
tube feeding (patient b)

Cardiovascular Heart:
ventricular septal defect (patient a)

Skeletal Pelvis:
hip dislocation (patient b)

Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder
stereotypic behavior

Head And Neck Ears:
deafness, sensorineural, bilateral, congenital (in some patients)

Respiratory:
tracheoesophageal fistula (patient a)

Clinical features from OMIM®:

619083 (Updated 05-Mar-2021)

Drugs & Therapeutics for Delpire-Mcneill Syndrome

Search Clinical Trials , NIH Clinical Center for Delpire-Mcneill Syndrome

Genetic Tests for Delpire-Mcneill Syndrome

Anatomical Context for Delpire-Mcneill Syndrome

Publications for Delpire-Mcneill Syndrome

Articles related to Delpire-Mcneill Syndrome:

# Title Authors PMID Year
1
SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect. 6 57
32658972 2020

Variations for Delpire-Mcneill Syndrome

ClinVar genetic disease variations for Delpire-Mcneill Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC12A2 NM_001046.3(SLC12A2):c.980C>T (p.Ala327Val) SNV Pathogenic 984669 5:127450305-127450305 5:128114613-128114613
2 SLC12A2 NM_001046.3(SLC12A2):c.2675G>A (p.Trp892Ter) SNV Pathogenic 984670 5:127503511-127503511 5:128167819-128167819
3 SLC12A2 NM_001046.3(SLC12A2):c.1127A>T (p.Asn376Ile) SNV Pathogenic 984671 5:127466837-127466837 5:128131145-128131145
4 SLC12A2 NM_001046.3(SLC12A2):c.555dup (p.His186fs) Duplication Pathogenic 984672 5:127420200-127420201 5:128084508-128084509

Expression for Delpire-Mcneill Syndrome

Search GEO for disease gene expression data for Delpire-Mcneill Syndrome.

Pathways for Delpire-Mcneill Syndrome

GO Terms for Delpire-Mcneill Syndrome

Sources for Delpire-Mcneill Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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