MCID: MYM012
MIFTS: 24

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

Categories: Neuronal diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Rare 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 73
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome 59
Moyamoya Disease-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism 59
Chromosome Xq28 Deletion Syndrome, 3.4-Kb 57
Syndromic Moyamoya Disease 57
Moyamoya Disease 4 57
Mymy4 57

Characteristics:

Orphanet epidemiological data:

59
moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

57
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:

32
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 : 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)

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 moyamoya disease 1 and graves' disease. 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 hypertelorism and low-set ears

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 9.7
2 graves' disease 9.6

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

Symptoms via clinical synopsis from OMIM:

57
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

GenitourinaryInternal GenitaliaMale:
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

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

32 (show all 27)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 ptosis 32 HP:0000508
4 seizures 32 occasional (7.5%) HP:0001250
5 cataract 32 occasional (7.5%) HP:0000518
6 global developmental delay 32 occasional (7.5%) HP:0001263
7 abnormal facial shape 32 HP:0001999
8 short stature 32 HP:0004322
9 long philtrum 32 HP:0000343
10 retrognathia 32 HP:0000278
11 stroke-like episode 32 HP:0002401
12 premature graying of hair 32 HP:0002216
13 deeply set eye 32 HP:0000490
14 hypergonadotropic hypogonadism 32 HP:0000815
15 decreased testicular size 32 HP:0008734
16 small hand 32 HP:0200055
17 azoospermia 32 HP:0000027
18 cerebral hemorrhage 32 HP:0001342
19 wide nose 32 HP:0000445
20 broad finger 32 HP:0001500
21 dilated cardiomyopathy 32 HP:0001644
22 abnormal hand morphology 32 HP:0005922
23 short phalanx of finger 32 HP:0009803
24 abnormality of the nares 32 HP:0005288
25 growth hormone deficiency 32 HP:0000824
26 moyamoya phenomenon 32 HP:0011834
27 abnormal left ventricle morphology 32 HP:0001711

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:

41
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
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
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44 MeSH
45 MESH via Orphanet
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49 NCI
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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
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