BILAPES
MCID: BRK013
MIFTS: 19

Birk-Landau-Perez Syndrome (BILAPES)

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Birk-Landau-Perez Syndrome

MalaCards integrated aliases for Birk-Landau-Perez Syndrome:

Name: Birk-Landau-Perez Syndrome 58 76 6
Bilapes 58 76
Psychomotor Regression-Oculomotor Apraxia-Movement Disorder-Nephropathy Syndrome 60
Cerebrorenal Syndrome, Perez Type 60

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset in first years of life after normal development
not all patients develop renal insufficiency
one consanguineous saudi arabian bedouin family has been reported (last curated july 2017)


HPO:

33
birk-landau-perez syndrome:
Onset and clinical course phenotypic variability


Classifications:



Summaries for Birk-Landau-Perez Syndrome

UniProtKB/Swiss-Prot : 76 Birk-Landau-Perez syndrome: An autosomal recessive syndrome characterized by early-childhood onset of different combinations of intellectual disability, muscle weakness, camptocormia, oculomotor apraxia, and nephropathy.

MalaCards based summary : Birk-Landau-Perez Syndrome, is also known as bilapes. An important gene associated with Birk-Landau-Perez Syndrome is SLC30A9 (Solute Carrier Family 30 Member 9). Affiliated tissues include eye and kidney, and related phenotypes are ptosis and ataxia

Description from OMIM: 617595

Related Diseases for Birk-Landau-Perez Syndrome

Symptoms & Phenotypes for Birk-Landau-Perez Syndrome

Human phenotypes related to Birk-Landau-Perez Syndrome:

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 ptosis 33 HP:0000508
2 ataxia 33 HP:0001251
3 developmental regression 33 HP:0002376
4 dyskinesia 33 HP:0100660
5 cognitive impairment 33 HP:0100543
6 renal insufficiency 33 HP:0000083
7 dystonia 33 HP:0001332
8 difficulty walking 33 HP:0002355
9 choreoathetosis 33 HP:0001266
10 oculomotor apraxia 33 HP:0000657
11 tubulointerstitial nephritis 33 HP:0001970
12 loss of speech 33 HP:0002371
13 muscular hypotonia of the trunk 33 HP:0008936
14 limb hypertonia 33 HP:0002509
15 hyperechogenic kidneys 33 HP:0004719

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
ptosis
oculomotor apraxia
saccadic eye movements
abnormal eye movements
lack of visual fixation

Genitourinary Kidneys:
renal insufficiency
hyperechogenic kidneys
renal biopsy shows tubulointerstitial nephritis

Muscle Soft Tissue:
limb hypertonia
axial hypotonia

Cardiovascular Vascular:
hypertension due to renal dysfunction

Neurologic Central Nervous System:
ataxia
developmental regression
dyskinesia
cognitive impairment
dystonia
more
Laboratory Abnormalities:
hyperkalemia

Head And Neck Neck:
poor neck control

Clinical features from OMIM:

617595

Drugs & Therapeutics for Birk-Landau-Perez Syndrome

Search Clinical Trials , NIH Clinical Center for Birk-Landau-Perez Syndrome

Genetic Tests for Birk-Landau-Perez Syndrome

Anatomical Context for Birk-Landau-Perez Syndrome

MalaCards organs/tissues related to Birk-Landau-Perez Syndrome:

42
Eye, Kidney

Publications for Birk-Landau-Perez Syndrome

Variations for Birk-Landau-Perez Syndrome

ClinVar genetic disease variations for Birk-Landau-Perez Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC30A9 NM_006345.3(SLC30A9): c.1049_1051delCAG (p.Ala350del) deletion Pathogenic rs1131692331 GRCh38 Chromosome 4, 42065326: 42065328
2 SLC30A9 NM_006345.3(SLC30A9): c.1049_1051delCAG (p.Ala350del) deletion Pathogenic rs1131692331 GRCh37 Chromosome 4, 42067343: 42067345

Expression for Birk-Landau-Perez Syndrome

Search GEO for disease gene expression data for Birk-Landau-Perez Syndrome.

Pathways for Birk-Landau-Perez Syndrome

GO Terms for Birk-Landau-Perez Syndrome

Sources for Birk-Landau-Perez 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
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
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
Content
Loading form....