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 57 75 6
Bilapes 57 75
Psychomotor Regression-Oculomotor Apraxia-Movement Disorder-Nephropathy Syndrome 59
Cerebrorenal Syndrome, Perez Type 59

Characteristics:

OMIM:

57
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:

32
birk-landau-perez syndrome:
Onset and clinical course phenotypic variability


Classifications:



Summaries for Birk-Landau-Perez Syndrome

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Birk-Landau-Perez Syndrome:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 ptosis 32 HP:0000508
2 ataxia 32 HP:0001251
3 developmental regression 32 HP:0002376
4 dyskinesia 32 HP:0100660
5 cognitive impairment 32 HP:0100543
6 renal insufficiency 32 HP:0000083
7 dystonia 32 HP:0001332
8 difficulty walking 32 HP:0002355
9 choreoathetosis 32 HP:0001266
10 oculomotor apraxia 32 HP:0000657
11 tubulointerstitial nephritis 32 HP:0001970
12 loss of speech 32 HP:0002371
13 limb hypertonia 32 HP:0002509
14 muscular hypotonia of the trunk 32 HP:0008936
15 hyperechogenic kidneys 32 HP:0004719

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:

41
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 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
Content
Loading form....