KABAMAS
MCID: KYB001
MIFTS: 20

Kaya-Barakat-Masson Syndrome (KABAMAS)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Kaya-Barakat-Masson Syndrome

MalaCards integrated aliases for Kaya-Barakat-Masson Syndrome:

Name: Kaya-Barakat-Masson Syndrome 57 6
Kabamas 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
death in childhood may occur


HPO:

31
kaya-barakat-masson syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset congenital onset


Classifications:



Summaries for Kaya-Barakat-Masson Syndrome

OMIM® : 57 Kaya-Barakat-Masson syndrome (KABAMAS) is a severe autosomal recessive neurodevelopmental disorder characterized by profoundly impaired global development with variable motor abnormalities, such as axial hypotonia, peripheral spasticity, dystonia, and poor coordination, resulting in the inability to sit or walk. Affected individuals have impaired intellectual development with absent speech, poor eye contact, and feeding difficulties, resulting in poor overall growth, sometimes with microcephaly. Dysmorphic features are generally not present. Additional more variable features include early-onset seizures, ocular anomalies, foot deformities, and nonspecific brain imaging findings, such as thin corpus callosum and cerebral, cerebellar, or pontine atrophy. Some patients may die in infancy or early childhood (summary by AlMuhaizea et al., 2020 and Diaz et al., 2020). (619125) (Updated 05-Mar-2021)

MalaCards based summary : Kaya-Barakat-Masson Syndrome, is also known as kabamas. An important gene associated with Kaya-Barakat-Masson Syndrome is YIF1B (Yip1 Interacting Factor Homolog B, Membrane Trafficking Protein). Affiliated tissues include eye and brain, and related phenotypes are scoliosis and global developmental delay

Related Diseases for Kaya-Barakat-Masson Syndrome

Symptoms & Phenotypes for Kaya-Barakat-Masson Syndrome

Human phenotypes related to Kaya-Barakat-Masson Syndrome:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 very rare (1%) HP:0002650
2 global developmental delay 31 very rare (1%) HP:0001263
3 delayed speech and language development 31 very rare (1%) HP:0000750
4 dyskinesia 31 very rare (1%) HP:0100660
5 microcephaly 31 very rare (1%) HP:0000252
6 feeding difficulties in infancy 31 very rare (1%) HP:0008872
7 spastic tetraplegia 31 very rare (1%) HP:0002510
8 intrauterine growth retardation 31 very rare (1%) HP:0001511
9 irritability 31 very rare (1%) HP:0000737
10 hypoplasia of the corpus callosum 31 very rare (1%) HP:0002079
11 cerebellar atrophy 31 very rare (1%) HP:0001272
12 cerebral atrophy 31 very rare (1%) HP:0002059
13 generalized hypotonia 31 very rare (1%) HP:0001290
14 limb dystonia 31 very rare (1%) HP:0002451
15 muscular hypotonia of the trunk 31 very rare (1%) HP:0008936
16 cerebral visual impairment 31 very rare (1%) HP:0100704
17 cns hypomyelination 31 very rare (1%) HP:0003429
18 seizure 31 very rare (1%) HP:0001250
19 delayed ability to roll over 31 very rare (1%) HP:0032989

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
spasticity
dyskinesia
dystonia
poor head control
cerebellar atrophy
more
Skeletal Spine:
scoliosis

Abdomen Gastrointestinal:
dysphagia
feeding difficulties
tube feeding

Growth Height:
short stature

Skeletal Feet:
foot deformities

Growth Other:
failure to thrive
poor overall growth

Head And Neck Eyes:
nystagmus
optic atrophy
strabismus
abnormal visual evoked potentials
retinal dysfunction
more
Skeletal Pelvis:
hip dysplasia
hip dislocation

Respiratory:
central hypoventilation
central respiratory dysfunction (in some patients)

Head And Neck Head:
microcephaly (in some patients)

Clinical features from OMIM®:

619125 (Updated 05-Mar-2021)

Drugs & Therapeutics for Kaya-Barakat-Masson Syndrome

Search Clinical Trials , NIH Clinical Center for Kaya-Barakat-Masson Syndrome

Genetic Tests for Kaya-Barakat-Masson Syndrome

Anatomical Context for Kaya-Barakat-Masson Syndrome

MalaCards organs/tissues related to Kaya-Barakat-Masson Syndrome:

40
Eye, Brain

Publications for Kaya-Barakat-Masson Syndrome

Articles related to Kaya-Barakat-Masson Syndrome:

# Title Authors PMID Year
1
YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations. 57 6
33103737 2020
2
Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy. 57 6
32006098 2020

Variations for Kaya-Barakat-Masson Syndrome

ClinVar genetic disease variations for Kaya-Barakat-Masson Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 YIF1B NM_001039672.3(YIF1B):c.360_361insACAT (p.Gly121fs) Insertion Pathogenic 988950 19:38799905-38799906 19:38309265-38309266
2 YIF1B NM_001039672.3(YIF1B):c.598G>T (p.Glu200Ter) SNV Pathogenic 988951 19:38798334-38798334 19:38307694-38307694
3 YIF1B NM_001039672.3(YIF1B):c.539+1G>A SNV Pathogenic 988952 19:38799431-38799431 19:38308791-38308791
4 YIF1B NM_001039672.3(YIF1B):c.367A>C (p.Lys123Gln) SNV Pathogenic 988954 19:38799899-38799899 19:38309259-38309259
5 YIF1B NM_001039672.3(YIF1B):c.696-2A>C SNV Pathogenic 988955 19:38798163-38798163 19:38307523-38307523
6 YIF1B NM_001039672.3(YIF1B):c.186dup (p.Ala63fs) Duplication Pathogenic 985308 19:38800155-38800156 19:38309515-38309516

Expression for Kaya-Barakat-Masson Syndrome

Search GEO for disease gene expression data for Kaya-Barakat-Masson Syndrome.

Pathways for Kaya-Barakat-Masson Syndrome

GO Terms for Kaya-Barakat-Masson Syndrome

Sources for Kaya-Barakat-Masson Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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