LOMARS
MCID: LPS021
MIFTS: 17

Lopes-Maciel-Rodan Syndrome (LOMARS)

Categories: Genetic diseases

Aliases & Classifications for Lopes-Maciel-Rodan Syndrome

MalaCards integrated aliases for Lopes-Maciel-Rodan Syndrome:

Name: Lopes-Maciel-Rodan Syndrome 58 76 6
Lomars 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
four patients from 2 unrelated families have been reported (last curated april 2017)


Classifications:



Summaries for Lopes-Maciel-Rodan Syndrome

UniProtKB/Swiss-Prot : 76 Lopes-Maciel-Rodan syndrome: 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, is also known as lomars. An important gene associated with Lopes-Maciel-Rodan Syndrome is HTT (Huntingtin). Related phenotypes are seizures and caudate atrophy

Description from OMIM: 617435

Related Diseases for Lopes-Maciel-Rodan Syndrome

Symptoms & Phenotypes for Lopes-Maciel-Rodan Syndrome

Human phenotypes related to Lopes-Maciel-Rodan Syndrome:

33 (show all 22)
# Description HPO Frequency HPO Source Accession
1 seizures 33 very rare (1%) HP:0001250
2 caudate atrophy 33 very rare (1%) HP:0002340
3 spasticity 33 HP:0001257
4 tremor 33 HP:0001337
5 dysphagia 33 HP:0002015
6 developmental regression 33 HP:0002376
7 scoliosis 33 HP:0002650
8 kyphosis 33 HP:0002808
9 abnormal pyramidal sign 33 HP:0007256
10 global developmental delay 33 HP:0001263
11 intellectual disability, severe 33 HP:0010864
12 feeding difficulties 33 HP:0011968
13 short foot 33 HP:0001773
14 absent speech 33 HP:0001344
15 dystonia 33 HP:0001332
16 small hand 33 HP:0200055
17 cerebellar atrophy 33 HP:0001272
18 bradykinesia 33 HP:0002067
19 ankle clonus 33 HP:0011448
20 cerebral atrophy 33 HP:0002059
21 unsteady gait 33 HP:0002317
22 muscular hypotonia of the trunk 33 HP:0008936

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
spasticity
tremor
hyperreflexia
intellectual disability, severe
dystonia
more
Skeletal Spine:
scoliosis
kyphosis

Head And Neck Mouth:
bruxism

Skeletal Feet:
small feet
cold feet

Head And Neck Eyes:
myopia (1 family)

Respiratory:
breathing disturbances

Abdomen Gastrointestinal:
dysphagia
feeding difficulties

Neurologic Behavioral Psychiatric Manifestations:
agitation

Skeletal Hands:
small hands
cold hands

Muscle Soft Tissue:
truncal hypotonia
appendicular hypertonia

Skeletal:
distal contractures

Clinical features from OMIM:

617435

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

Anatomical Context for Lopes-Maciel-Rodan Syndrome

Publications for Lopes-Maciel-Rodan Syndrome

Articles related to Lopes-Maciel-Rodan Syndrome:

# Title Authors Year
1
Identification of novel genetic causes of Rett syndrome-like phenotypes. ( 26740508 )
2016
2
A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene. ( 27329733 )
2016

Variations for Lopes-Maciel-Rodan Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 HTT p.Pro703Leu VAR_079026 rs768047421
2 HTT p.Phe2717Leu VAR_079027 rs108530705

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HTT NM_002111.8(HTT): c.4469+1G> A single nucleotide variant Uncertain significance rs1060505027 GRCh38 Chromosome 4, 3177388: 3177388
2 HTT NM_002111.8(HTT): c.4469+1G> A single nucleotide variant Uncertain significance rs1060505027 GRCh37 Chromosome 4, 3179115: 3179115
3 HTT NM_002111.8(HTT): c.2114C> T (p.Pro705Leu) single nucleotide variant Pathogenic rs768047421 GRCh37 Chromosome 4, 3133374: 3133374
4 HTT NM_002111.8(HTT): c.2114C> T (p.Pro705Leu) single nucleotide variant Pathogenic rs768047421 GRCh38 Chromosome 4, 3131647: 3131647
5 HTT NM_002111.8(HTT): c.3785C> T (p.Thr1262Met) single nucleotide variant Pathogenic rs34315806 GRCh37 Chromosome 4, 3162034: 3162034
6 HTT NM_002111.8(HTT): c.3785C> T (p.Thr1262Met) single nucleotide variant Pathogenic rs34315806 GRCh38 Chromosome 4, 3160307: 3160307
7 HTT NM_002111.8(HTT): c.8156T> A (p.Phe2719Tyr) single nucleotide variant Pathogenic rs1060505028 GRCh37 Chromosome 4, 3231654: 3231654
8 HTT NM_002111.8(HTT): c.8156T> A (p.Phe2719Tyr) single nucleotide variant Pathogenic rs1060505028 GRCh38 Chromosome 4, 3229927: 3229927

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

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
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37 IUPHAR
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45 MeSH
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47 MGI
50 NCI
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55 NINDS
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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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