Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism

General Information (adopted from Orphanet):

Synonyms, Signs: MYMY4
syndromic moyamoya disease
Chromosome Xq28 deletion syndrome, 3.4-KB
Number of Symptoms 50
OrphanetNr: 280679
OMIM Id: 300845
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 families - PMID: 21596366 [IBIS]
Inheritance: X-linked
X-linked recessive
- PMID: 21596366 [IBIS]
Age of onset: All ages
- PMID: 21596366 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Genetic central nervous system and retinal vascular disease
 -Rare genetic disease
Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare developmental defect during embryogenesis
Non-hypogonadotropic hypogonadism
 -Rare endocrine disease
 -Rare genetic disease
Rare central nervous system and retinal vascular disease
 -Rare neurologic disease

Comment:

This syndromic moyamoya is caused by Xq28 deletions removing MTCP1/MTCP1NB and BRCC3 (PMID:21596366).

Symptom Information: Sort by abundance 

1
 (HPO:0000574) Thick eyebrow 21596366 IBIS 96 / 7739
2
 (HPO:0000267) Cranial asymmetry 21596366 IBIS 6 / 7739
3
 (HPO:0003124) Hypercholesterolemia 21596366 IBIS 53 / 7739
4
 (HPO:0001920) Renal artery stenosis 21596366 IBIS 5 / 7739
5
 (HPO:0011098) Speech apraxia 21596366 IBIS 9 / 7739
6
 (HPO:0000823) Delayed puberty 21596366 IBIS 65 / 7739
7
 (HPO:0012020) Right aortic arch 21596366 IBIS 9 / 7739
8
 (HPO:0001712) Left ventricular hypertrophy 21596366 IBIS 76 / 7739
9
 (HPO:0009381) Short finger 21596366 IBIS 45 / 7739
10
 (HPO:0000027) Azoospermia 21596366 IBIS 28 / 7739
11
 (HPO:0100545) Arterial stenosis 21596366 IBIS 22 / 7739
12
 (HPO:0001342) Cerebral hemorrhage 21596366 IBIS 24 / 7739
13
 (MedDRA:10008118) Cerebral infarction 21596366 IBIS 10 / 7739
14
 (HPO:0007819) Presenile cataracts 21596366 IBIS 5 / 7739
15
 (HPO:0002216) Premature graying of hair 21596366 IBIS 43 / 7739
16
 (HPO:0005181) Premature coronary artery disease 21596366 IBIS 5 / 7739
17
 (HPO:0001644) Dilated cardiomyopathy 21596366 IBIS 141 / 7739
18
 (HPO:0000822) Hypertension 21596366 IBIS 224 / 7739
19
 (HPO:0000815) Hypergonadotropic hypogonadism 21596366 IBIS 48 / 7739
20
 (HPO:0004322) Short stature 21596366 IBIS 1232 / 7739
21
 (HPO:0001999) Abnormal facial shape 21596366 IBIS 169 / 7739
22
 (HPO:0005922) Abnormal hand morphology 6 / 7739
23
 (HPO:0011834) Moyamoya phenomenon 21596366 IBIS 4 / 7739
24
 (HPO:0008734) Decreased testicular size 105 / 7739
25
 (HPO:0000490) Deeply set eye 21596366 IBIS 131 / 7739
26
 (HPO:0005288) Abnormality of the nares 21596366 IBIS 3 / 7739
27
 (HPO:0000343) Long philtrum 21596366 IBIS 262 / 7739
28
 (HPO:0000316) Hypertelorism 21596366 IBIS 644 / 7739
29
 (HPO:0000278) Retrognathia 100 / 7739
30
 (HPO:0000445) Wide nose 21596366 IBIS 190 / 7739
31
 (HPO:0000508) Ptosis 21596366 IBIS 459 / 7739
32
 (HPO:0000518) Cataract rare [HPO:skoehler] 454 / 7739
33
 (HPO:0000369) Low-set ears 21596366 IBIS 372 / 7739
34
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
35
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
36
 (HPO:0001263) Global developmental delay rare [HPO:skoehler] 21596366 IBIS 853 / 7739
37
 (HPO:0000824) Growth hormone deficiency 21596366 IBIS 56 / 7739
38
 (HPO:0009803) Short phalanx of finger 79 / 7739
39
 (HPO:0001500) Broad finger 21596366 IBIS 9 / 7739
40
 (HPO:0200055) Small hand 21596366 IBIS 71 / 7739
41
 (HPO:0002401) Stroke-like episodes 10 / 7739
42
 (HPO:0001711) Abnormality of the left ventricle 21596366 IBIS 22 / 7739
43
 (MedDRA:10028047) Moyamoya disease 4 / 7739
44
 (OMIM) Left ventricular enlargement 9 / 7739
45
 (OMIM) Broad, short fingers 4 / 7739
46
 (OMIM) Cerebrovascular disease 1 / 7739
47
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
48
 (OMIM) Flared nares 2 / 7739
49
 (OMIM) Early-onset cataracts (1 family) 1 / 7739
50
 (OMIM) Acute neurologic deficits due to cerebrovascular disease 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Herve et al. (2010) reported an Algerian family in which 5 males were affected with a multisystem disorder characterized by moyamoya angiopathy, short stature, hypergonadotropic hypogonadism, facial dysmorphism, and early-onset cataracts. The proband developed repeated episodes of sudden right ...
Molecular genetics OMIM In affected members of 3 families with X-linked recessive syndromic moyamoya disease, Miskinyte et al. (2011) identified 3 different deletions on chromosome Xq28. The critical region of overlap was a 3.4-kb region including exon 1 of the MTCP1/MTCP1NB gene ...