MCID: LPS021
MIFTS: 13

Lopes-Maciel-Rodan Syndrome

Categories: Genetic diseases

Aliases & Classifications for Lopes-Maciel-Rodan Syndrome

MalaCards integrated aliases for Lopes-Maciel-Rodan Syndrome:

Name: Lopes-Maciel-Rodan Syndrome 57 75 6
Lomars 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 57 617435
MedGen 42 C4479491
MeSH 44 D065886

Summaries for Lopes-Maciel-Rodan Syndrome

UniProtKB/Swiss-Prot : 75 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).

Description from OMIM: 617435

Related Diseases for Lopes-Maciel-Rodan Syndrome

Symptoms & Phenotypes for Lopes-Maciel-Rodan Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Variations for Lopes-Maciel-Rodan Syndrome

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

75
# Symbol AA change Variation ID SNP ID
1 HTT p.Pro703Leu VAR_079026 rs768047421
2 HTT p.Phe2717Leu VAR_079027

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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