MYMY4
MCID: MYM012
MIFTS: 25

Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism (MYMY4)

Categories: Cardiovascular diseases, Endocrine diseases, Fetal diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Moyamoya Disease 4 with Short Stature, Hypergonadotropic...

MalaCards integrated aliases for Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism:

Name: Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 57 6 70
Moyamoya Disease 4 57 13
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome 58
Moyamoya Disease-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism 58
Chromosome Xq28 Deletion Syndrome, 3.4-Kb 57
Syndromic Moyamoya Disease 57
Mymy4 57

Characteristics:

Orphanet epidemiological data:

58
moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
x-linked recessive

Miscellaneous:
three families have been reported (as of 28 june 2011)
onset of neurologic events can occur between 4 and 35 years of age
facial dysmorphic features are variable


HPO:

31
moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare infertility disorders
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Moyamoya Disease 4 with Short Stature, Hypergonadotropic...

OMIM® : 57 This multisystem disorder is characterized by moyamoya disease, short stature, hypergonadotropic hypogonadism, and facial dysmorphism. Other variable features include dilated cardiomyopathy, premature graying of the hair, and early-onset cataracts. Moyamoya disease is a progressive cerebrovascular disorder characterized by stenosis or occlusion of the internal carotid arteries and the main branches, leading to the development of small collateral vessels (moyamoya vessels) at the base of the brain. Affected individuals can develop acute neurologic events due to stroke-like episodes (summary by Miskinyte et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350). (300845) (Updated 20-May-2021)

MalaCards based summary : Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism, also known as moyamoya disease 4, is related to moyamoya disease 1 and quadriplegia. An important gene associated with Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism is MYMY4 (Moyamoya Disease 4). Affiliated tissues include eye, and related phenotypes are moyamoya phenomenon and hypertension

Related Diseases for Moyamoya Disease 4 with Short Stature, Hypergonadotropic...

Diseases related to Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 moyamoya disease 1 9.9
2 quadriplegia 9.9

Symptoms & Phenotypes for Moyamoya Disease 4 with Short Stature, Hypergonadotropic...

Human phenotypes related to Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism:

58 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 moyamoya phenomenon 58 31 hallmark (90%) Very frequent (99-80%) HP:0011834
2 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
3 cataract 58 31 occasional (7.5%) Frequent (79-30%) HP:0000518
4 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
5 abnormal facial shape 58 31 frequent (33%) Frequent (79-30%) HP:0001999
6 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
7 delayed puberty 58 31 frequent (33%) Frequent (79-30%) HP:0000823
8 retrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000278
9 dilated cardiomyopathy 58 31 frequent (33%) Frequent (79-30%) HP:0001644
10 premature graying of hair 58 31 frequent (33%) Frequent (79-30%) HP:0002216
11 azoospermia 58 31 frequent (33%) Frequent (79-30%) HP:0000027
12 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
13 cerebral hemorrhage 58 31 frequent (33%) Frequent (79-30%) HP:0001342
14 hypergonadotropic hypogonadism 58 31 frequent (33%) Frequent (79-30%) HP:0000815
15 functional motor deficit 58 31 frequent (33%) Frequent (79-30%) HP:0004302
16 ischemic stroke 58 31 frequent (33%) Frequent (79-30%) HP:0002140
17 congenital ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0007970
18 muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001324
19 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
20 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
21 deeply set eye 58 31 occasional (7.5%) Occasional (29-5%) HP:0000490
22 decreased testicular size 58 31 occasional (7.5%) Occasional (29-5%) HP:0008734
23 wide nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000445
24 coronary artery atherosclerosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001677
25 flared nostrils 58 31 occasional (7.5%) Occasional (29-5%) HP:0000454
26 seizure 31 occasional (7.5%) HP:0001250
27 decreased response to growth hormone stimuation test 31 occasional (7.5%) HP:0000824
28 ptosis 31 HP:0000508
29 abnormality of the nervous system 58 Frequent (79-30%)
30 small hand 31 HP:0200055
31 broad finger 31 HP:0001500
32 abnormal hand morphology 31 HP:0005922
33 short phalanx of finger 31 HP:0009803
34 abnormal left ventricle morphology 31 HP:0001711
35 growth hormone deficiency 58 Occasional (29-5%)
36 abnormality of the nares 31 HP:0005288
37 stroke-like episode 31 HP:0002401

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
ptosis
hypertelorism
deep-set eyes
early-onset cataracts (1 family)

Head And Neck Face:
retrognathia
long philtrum

Genitourinary Internal Genitalia Male:
azoospermia

Endocrine Features:
hypergonadotropic hypogonadism
growth hormone deficiency

Skin Nails Hair Hair:
premature graying

Cardiovascular Vascular:
moyamoya disease
cerebrovascular disease

Genitourinary External Genitalia Male:
decreased testicular volume

Growth Height:
short stature

Head And Neck Ears:
low-set ears

Head And Neck Nose:
wide nose
broad nose
flared nares

Skeletal Hands:
short, broad fingers
small hands

Neurologic Central Nervous System:
seizures (less common)
cerebral infarcts
acute neurologic deficits due to cerebrovascular disease
cerebral hemorrhages
stroke-like symptoms
more
Cardiovascular Heart:
dilated cardiomyopathy (variable)
left ventricular enlargement (variable)

Clinical features from OMIM®:

300845 (Updated 20-May-2021)

Drugs & Therapeutics for Moyamoya Disease 4 with Short Stature, Hypergonadotropic...

Search Clinical Trials , NIH Clinical Center for Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism

Genetic Tests for Moyamoya Disease 4 with Short Stature, Hypergonadotropic...

Anatomical Context for Moyamoya Disease 4 with Short Stature, Hypergonadotropic...

MalaCards organs/tissues related to Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism:

40
Eye

Publications for Moyamoya Disease 4 with Short Stature, Hypergonadotropic...

Articles related to Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism:

# Title Authors PMID Year
1
Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya. 57
21596366 2011
2
A hereditary moyamoya syndrome with multisystemic manifestations. 57
20644152 2010
3
EC-IC Bypass; Our Experience of Cerebral Revascularization with Intraoperative Dual-Image Video Angiography (Diva). 61
33145198 2020
4
Assessment of Moyamoya disease with 3.0-T magnetic resonance angiography and magnetic resonance imaging versus conventional angiography. 61
21441735 2011
5
Asymptomatic moyamoya disease subsequently manifesting as transient ischemic attack, intracerebral hemorrhage, and subarachnoid hemorrhage in a short period: case report. 61
20448425 2010
6
Indications for one-stage extensive indirect vascular reconstructive surgery for pediatric moyamoya disease: 4 case reports. 61
19329149 2009
7
[Cerebral hemodynamics and metabolism in patients with Moyamoya disease not demonstrating either cerebral infarct or hemorrhage on MRI]. 61
8587218 1995

Variations for Moyamoya Disease 4 with Short Stature, Hypergonadotropic...

ClinVar genetic disease variations for Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BRCC3 GRCh37/hg19 Xq28(chrX:154305031-154307464) copy number loss Pathogenic 625645 GRCh37: X:154305031-154307464
GRCh38:

Expression for Moyamoya Disease 4 with Short Stature, Hypergonadotropic...

Search GEO for disease gene expression data for Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism.

Pathways for Moyamoya Disease 4 with Short Stature, Hypergonadotropic...

GO Terms for Moyamoya Disease 4 with Short Stature, Hypergonadotropic...

Sources for Moyamoya Disease 4 with Short Stature, Hypergonadotropic...

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....