MYMY4
MCID: MYM012
MIFTS: 26

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

Categories: 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 58 74
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome 60
Moyamoya Disease-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism 60
Chromosome Xq28 Deletion Syndrome, 3.4-Kb 58
Syndromic Moyamoya Disease 58
Moyamoya Disease 4 58
Mymy4 58

Characteristics:

Orphanet epidemiological data:

60
moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

58
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:

33
moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism:
Inheritance x-linked recessive inheritance


Classifications:



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

OMIM : 58 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)

MalaCards based summary : Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism, also known as moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome, is related to down syndrome and moyamoya disease 1. An important gene associated with Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism is MYMY4 (Moyamoya Disease 4). Affiliated tissues include brain and eye, and related phenotypes are seizures and cataract

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 down syndrome 9.8
2 moyamoya disease 1 9.8
3 nephrotic syndrome 9.8
4 graves' disease 9.8
5 turner syndrome 9.8

Graphical network of the top 20 diseases related to Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism:



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

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:

33 (show all 27)
# Description HPO Frequency HPO Source Accession
1 seizures 33 occasional (7.5%) HP:0001250
2 cataract 33 occasional (7.5%) HP:0000518
3 global developmental delay 33 occasional (7.5%) HP:0001263
4 hypertelorism 33 HP:0000316
5 low-set ears 33 HP:0000369
6 ptosis 33 HP:0000508
7 abnormal facial shape 33 HP:0001999
8 short stature 33 HP:0004322
9 long philtrum 33 HP:0000343
10 retrognathia 33 HP:0000278
11 dilated cardiomyopathy 33 HP:0001644
12 stroke-like episode 33 HP:0002401
13 premature graying of hair 33 HP:0002216
14 deeply set eye 33 HP:0000490
15 hypergonadotropic hypogonadism 33 HP:0000815
16 decreased testicular size 33 HP:0008734
17 small hand 33 HP:0200055
18 azoospermia 33 HP:0000027
19 cerebral hemorrhage 33 HP:0001342
20 wide nose 33 HP:0000445
21 broad finger 33 HP:0001500
22 abnormal hand morphology 33 HP:0005922
23 short phalanx of finger 33 HP:0009803
24 abnormality of the nares 33 HP:0005288
25 moyamoya phenomenon 33 HP:0011834
26 growth hormone deficiency 33 HP:0000824
27 abnormal left ventricle morphology 33 HP:0001711

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
ptosis
deep-set eyes
early-onset cataracts (1 family)

Growth Height:
short stature

Endocrine Features:
hypergonadotropic hypogonadism
growth hormone deficiency

Head And Neck Nose:
wide nose
broad nose
flared nares

Skin Nails Hair Hair:
premature graying

Cardiovascular Vascular:
moyamoya disease
cerebrovascular disease

Genitourinary External Genitalia Male:
decreased testicular volume

Head And Neck Ears:
low-set ears

Head And Neck Face:
long philtrum
retrognathia

Genitourinary Internal Genitalia Male:
azoospermia

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

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:

42
Brain, 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 Year
1
Indications for one-stage extensive indirect vascular reconstructive surgery for pediatric moyamoya disease: 4 case reports. ( 19329149 )
2009

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

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
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
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43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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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
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