MCAND
MCID: MLT178
MIFTS: 23

Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked (MCAND)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Multiple Congenital Anomalies-Neurodevelopmental Syndrome,...

MalaCards integrated aliases for Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked:

Name: Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked 57 6
Linked Syndrome 57
Mcand 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
phenotypic variability
onset at birth or early infancy
death in childhood (in some patients)

Inheritance:
x-linked recessive


Classifications:



External Ids:

OMIM® 57 301056

Summaries for Multiple Congenital Anomalies-Neurodevelopmental Syndrome,...

OMIM® : 57 X-linked multiple congenital anomalies-neurodevelopmental syndrome (MCAND) is an X-linked recessive congenital multisystemic disorder characterized by poor growth, global developmental delay with impaired intellectual development, and variable abnormalities of the cardiac, skeletal, and genitourinary systems. Most affected individuals also have hypotonia and dysmorphic craniofacial features. Brain imaging typically shows enlarged ventricles and thin corpus callosum; some have microcephaly, whereas others have hydrocephalus. The severity of the disorder is highly variable, ranging from death in early infancy to survival into the second or third decade. Pathogenetically, the disorder results from disrupted gene expression and signaling during embryogenesis, thus affecting multiple systems (summary by Tripolszki et al., 2021 and Beck et al., 2021). Beck et al. (2021) referred to the disorder as LINKED syndrome (LINKage-specific deubiquitylation deficiency-induced Embryonic Defects). (301056) (Updated 05-Apr-2021)

MalaCards based summary : Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked, also known as linked syndrome, is related to immunodysregulation, polyendocrinopathy, and enteropathy, x-linked and corpus callosum, agenesis of, with abnormal genitalia. An important gene associated with Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked is OTUD5 (OTU Deubiquitinase 5). Affiliated tissues include brain, heart and liver.

Related Diseases for Multiple Congenital Anomalies-Neurodevelopmental Syndrome,...

Diseases related to Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 179)
# Related Disease Score Top Affiliating Genes
1 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 11.5
2 corpus callosum, agenesis of, with abnormal genitalia 11.1
3 christianson syndrome 10.9
4 intellectual developmental disorder, x-linked, syndromic, snijders blok type 10.8
5 wilson-turner x-linked mental retardation syndrome 10.8
6 raynaud-claes syndrome 10.8
7 mehmo syndrome 10.8
8 deafness, dystonia, and cerebral hypomyelination 10.8
9 nance-horan syndrome 10.8
10 craniofrontonasal syndrome 10.8
11 pelizaeus-merzbacher-like disease 10.8
12 polyendocrinopathy 10.4
13 branchiootic syndrome 1 10.0
14 autoimmune disease 10.0
15 diarrhea 10.0
16 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
17 microcephaly 10.0
18 autoimmune enteropathy 10.0
19 severe immune-mediated enteropathy 10.0
20 hemolytic anemia 9.9
21 cleft palate, isolated 9.9
22 hypertelorism 9.9
23 cryptorchidism, unilateral or bilateral 9.9
24 type 1 diabetes mellitus 9.9
25 hypothyroidism 9.9
26 dermatitis 9.9
27 hypereosinophilic syndrome 9.9
28 otopalatodigital syndrome, type ii 9.8
29 opitz-kaveggia syndrome 9.8
30 inflammatory bowel disease 9.8
31 scoliosis 9.8
32 hypospadias 9.8
33 thyroiditis 9.8
34 alopecia 9.8
35 spasticity 9.8
36 blood group, i system 9.7
37 coloboma of macula 9.7
38 3-methylglutaconic aciduria, type iii 9.7
39 periventricular nodular heterotopia 1 9.7
40 wiskott-aldrich syndrome 9.7
41 frontometaphyseal dysplasia 1 9.7
42 melnick-needles syndrome 9.7
43 norrie disease 9.7
44 choanal atresia, posterior 9.7
45 alacrima, achalasia, and mental retardation syndrome 9.7
46 proteinuria, chronic benign 9.7
47 brachydactyly 9.7
48 apraxia 9.7
49 frontometaphyseal dysplasia 9.7
50 sensorineural hearing loss 9.7

Graphical network of the top 20 diseases related to Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked:



Diseases related to Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked

Symptoms & Phenotypes for Multiple Congenital Anomalies-Neurodevelopmental Syndrome,...

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
macrocephaly
microcephaly

Head And Neck Eyes:
nystagmus
hypertelorism
visual impairment
strabismus
deep-set eyes
more
Respiratory:
respiratory insufficiency

Abdomen Gastrointestinal:
gastroesophageal reflux
feeding difficulties
tube feeding

Head And Neck Face:
retrognathia
large forehead
midface hypoplasia
dysmorphic facial features

Skeletal Feet:
talipes equinovarus
foot deformities
rocker bottom feet

Genitourinary Kidneys:
hydronephrosis
renal defects

Skin Nails Hair Hair:
hirsutism

Head And Neck Nose:
low nasal bridge
flat nasal bridge

Skeletal Limbs:
contractures

Growth Other:
failure to thrive
poor overall growth

Neurologic Central Nervous System:
hydrocephalus
global developmental delay
hypotonia
agenesis of the corpus callosum
seizures (in some patients)
more
Growth Height:
short stature

Genitourinary External Genitalia Male:
cryptorchidism
micropenis
hypospadias

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Genitourinary Bladder:
vesicoureteral reflux

Skeletal Skull:
craniosynostosis

Skeletal Hands:
postaxial polydactyly
contractures

Cardiovascular Heart:
septal defects
congenital heart defects
pulmonary stenosis
pulmonary atresia

Clinical features from OMIM®:

301056 (Updated 05-Apr-2021)

Drugs & Therapeutics for Multiple Congenital Anomalies-Neurodevelopmental Syndrome,...

Search Clinical Trials , NIH Clinical Center for Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked

Genetic Tests for Multiple Congenital Anomalies-Neurodevelopmental Syndrome,...

Anatomical Context for Multiple Congenital Anomalies-Neurodevelopmental Syndrome,...

MalaCards organs/tissues related to Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked:

40
Brain, Heart, Liver

Publications for Multiple Congenital Anomalies-Neurodevelopmental Syndrome,...

Articles related to Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked:

# Title Authors PMID Year
1
An X-linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene. 6 57
33131077 2021
2
Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation. 57 6
33523931 2021
3
RRI as Diagnostic and Follow up Indicator in Cirrhosis of the Liver with Hepatorenal Syndrome and Refractory Ascites. 61
31299833 2019

Variations for Multiple Congenital Anomalies-Neurodevelopmental Syndrome,...

ClinVar genetic disease variations for Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 OTUD5 NM_001136157.2(OTUD5):c.598G>A (p.Glu200Lys) SNV Pathogenic 996322 GRCh37: X:48801541-48801541
GRCh38: X:48944280-48944280
2 OTUD5 NM_001136157.2(OTUD5):c.1465G>A (p.Gly489Ser) SNV Pathogenic 996323 GRCh37: X:48781128-48781128
GRCh38: X:48923851-48923851
3 OTUD5 NM_001136157.2(OTUD5):c.1195C>T (p.Arg399Trp) SNV Pathogenic 996326 GRCh37: X:48783191-48783191
GRCh38: X:48925915-48925915
4 OTUD5 NM_001136157.2(OTUD5):c.820C>T (p.Arg274Trp) SNV Pathogenic 996325 GRCh37: X:48792074-48792074
GRCh38: X:48934801-48934801
5 OTUD5 NM_001136157.2(OTUD5):c.1040T>C (p.Leu347Pro) SNV Pathogenic 996324 GRCh37: X:48791756-48791756
GRCh38: X:48934483-48934483

Expression for Multiple Congenital Anomalies-Neurodevelopmental Syndrome,...

Search GEO for disease gene expression data for Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked.

Pathways for Multiple Congenital Anomalies-Neurodevelopmental Syndrome,...

GO Terms for Multiple Congenital Anomalies-Neurodevelopmental Syndrome,...

Sources for Multiple Congenital Anomalies-Neurodevelopmental 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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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