LOMARS
MCID: LPS021
MIFTS: 23

Lopes-Maciel-Rodan Syndrome (LOMARS)

Categories: Genetic diseases
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Aliases & Classifications for Lopes-Maciel-Rodan Syndrome

MalaCards integrated aliases for Lopes-Maciel-Rodan Syndrome:

Name: Lopes-Maciel-Rodan Syndrome 57 73 28 5 38 16
Lomars 57 73

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
four patients from 2 unrelated families have been reported (last curated april 2017)


Classifications:



Summaries for Lopes-Maciel-Rodan Syndrome

UniProtKB/Swiss-Prot: 73 An autosomal recessive neurodevelopmental disorder characterized by developmental regression in infancy, delayed psychomotor development, severe intellectual disability, and cerebral and cerebellar atrophy. Additional features include swallowing problems, dystonia, bradykinesia, and continuous manual stereotypies without chorea. Some patients manifest seizures.

MalaCards based summary: Lopes-Maciel-Rodan Syndrome, also known as lomars, is related to huntington disease and bruxism. An important gene associated with Lopes-Maciel-Rodan Syndrome is HTT (Huntingtin). Related phenotypes are seizure and caudate atrophy

More information from OMIM: 617435

Related Diseases for Lopes-Maciel-Rodan Syndrome

Diseases related to Lopes-Maciel-Rodan Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 huntington disease 10.4
2 bruxism 10.4

Symptoms & Phenotypes for Lopes-Maciel-Rodan Syndrome

Human phenotypes related to Lopes-Maciel-Rodan Syndrome:

30 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizure 30 Very rare (1%) HP:0001250
2 caudate atrophy 30 Very rare (1%) HP:0002340
3 spasticity 30 HP:0001257
4 scoliosis 30 HP:0002650
5 abnormal pyramidal sign 30 HP:0007256
6 tremor 30 HP:0001337
7 dysphagia 30 HP:0002015
8 kyphosis 30 HP:0002808
9 developmental regression 30 HP:0002376
10 global developmental delay 30 HP:0001263
11 intellectual disability, severe 30 HP:0010864
12 absent speech 30 HP:0001344
13 myopia 30 HP:0000545
14 dystonia 30 HP:0001332
15 small hand 30 HP:0200055
16 short foot 30 HP:0001773
17 feeding difficulties 30 HP:0011968
18 cerebellar atrophy 30 HP:0001272
19 cerebral atrophy 30 HP:0002059
20 unsteady gait 30 HP:0002317
21 ankle clonus 30 HP:0011448
22 bruxism 30 HP:0003763
23 agitation 30 HP:0000713
24 bradykinesia 30 HP:0002067
25 axial hypotonia 30 HP:0008936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
spasticity
hyperreflexia
tremor
intellectual disability, severe
dystonia
more
Abdomen Gastrointestinal:
dysphagia
feeding difficulties

Neurologic Behavioral Psychiatric Manifestations:
agitation

Skeletal Feet:
small feet
cold feet

Head And Neck Eyes:
myopia (1 family)

Respiratory:
breathing disturbances

Skeletal Spine:
scoliosis
kyphosis

Head And Neck Mouth:
bruxism

Skeletal Hands:
small hands
cold hands

Muscle Soft Tissue:
truncal hypotonia
appendicular hypertonia

Skeletal:
distal contractures

Clinical features from OMIM®:

617435 (Updated 08-Dec-2022)

Drugs & Therapeutics for Lopes-Maciel-Rodan Syndrome

Search Clinical Trials, NIH Clinical Center for Lopes-Maciel-Rodan Syndrome

Genetic Tests for Lopes-Maciel-Rodan Syndrome

Genetic tests related to Lopes-Maciel-Rodan Syndrome:

# Genetic test Affiliating Genes
1 Lopes-Maciel-Rodan Syndrome 28 HTT

Anatomical Context for Lopes-Maciel-Rodan Syndrome

Publications for Lopes-Maciel-Rodan Syndrome

Articles related to Lopes-Maciel-Rodan Syndrome:

# Title Authors PMID Year
1
A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene. 57 5
27329733 2016
2
Identification of novel genetic causes of Rett syndrome-like phenotypes. 57 5
26740508 2016
3
Description of the First Registered Case of Lopes-Maciel-Rodan Syndrome in Russia. 62
36293294 2022
4
Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs. 62
33432339 2021

Variations for Lopes-Maciel-Rodan Syndrome

ClinVar genetic disease variations for Lopes-Maciel-Rodan Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HTT NM_001388492.1(HTT):c.4463+1G>A SNV Pathogenic
225541 rs1060505027 GRCh37: 4:3179115-3179115
GRCh38: 4:3177388-3177388
2 HTT NM_001388492.1(HTT):c.8150T>A (p.Phe2717Tyr) SNV Pathogenic
417745 rs1060505028 GRCh37: 4:3231654-3231654
GRCh38: 4:3229927-3229927
3 HTT NM_001388492.1(HTT):c.2108C>T (p.Pro703Leu) SNV Pathogenic
417742 rs768047421 GRCh37: 4:3133374-3133374
GRCh38: 4:3131647-3131647
4 HTT NM_001388492.1(HTT):c.3779C>T (p.Thr1260Met) SNV Conflicting Interpretations Of Pathogenicity
417743 rs34315806 GRCh37: 4:3162034-3162034
GRCh38: 4:3160307-3160307
5 HTT NM_001388492.1(HTT):c.1972G>A (p.Asp658Asn) SNV Uncertain Significance
1029557 rs1715752151 GRCh37: 4:3132136-3132136
GRCh38: 4:3130409-3130409
6 HTT NM_001388492.1(HTT):c.3671C>T (p.Ser1224Phe) SNV Uncertain Significance
1029558 rs1717189753 GRCh37: 4:3158844-3158844
GRCh38: 4:3157117-3157117
7 HTT NM_001388492.1(HTT):c.2396-9T>G SNV Uncertain Significance
1033480 rs1715887741 GRCh37: 4:3134532-3134532
GRCh38: 4:3132805-3132805
8 HTT NM_001388492.1(HTT):c.3709C>A (p.Leu1237Ile) SNV Uncertain Significance
1033481 rs188342053 GRCh37: 4:3158882-3158882
GRCh38: 4:3157155-3157155
9 HTT NM_001388492.1(HTT):c.5226-4G>T SNV Uncertain Significance
1033482 rs1718894157 GRCh37: 4:3190674-3190674
GRCh38: 4:3188947-3188947

UniProtKB/Swiss-Prot genetic disease variations for Lopes-Maciel-Rodan Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 HTT p.Pro703Leu VAR_079026 rs768047421
2 HTT p.Phe2717Leu VAR_079027 rs1085307052

Expression for Lopes-Maciel-Rodan Syndrome

Search GEO for disease gene expression data for Lopes-Maciel-Rodan Syndrome.

Pathways for Lopes-Maciel-Rodan Syndrome

GO Terms for Lopes-Maciel-Rodan Syndrome

Sources for Lopes-Maciel-Rodan Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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