Mulibrey nanism

General Information (adopted from Orphanet):

Synonyms, Signs: perheentupa syndrome
Pericardial constriction - growth failure
Mulibrey dwarfism
muscle-liver-brain-eye nanism
Pericardial constriction and growth failure
Number of Symptoms 136
OrphanetNr: 2576
OMIM Id: 253250
ICD-10: Q87.1
UMLs: C0524582
C2931895
MeSH: C538604
D050336
MedDRA:
Snomed: 81604003

Prevalence, inheritance and age of onset:

Prevalence: 115 cases [Orphanet]
Inheritance: Autosomal recessive
14757854 [IBIS]
Age of onset: Neonatal
Infancy
14757854 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Genetic malformation syndrome with short stature
 -Rare genetic disease
Malformation syndrome with short stature
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0001919) Acute kidney injury 23385855 IBIS 21 / 7739
2
 (HPO:0002202) Pleural effusion 28496510; 23385855 IBIS 22 / 7739
3
 (HPO:0001708) Right ventricular failure 23385855 IBIS 11 / 7739
4
 (HPO:0001697) Abnormality of the pericardium 23385855 IBIS 52 / 7739
5
 (HPO:0006673) Reduced systolic function 23385855 IBIS 11 / 7739
6
 (HPO:0005133) Right ventricular dilatation 23385855 IBIS 14 / 7739
7
 (HPO:0030718) Right atrial enlargement 23385855 IBIS 1 / 7739
8
 (HPO:0001640) Cardiomegaly 14757854; 23385855 IBIS 81 / 7739
9
 (HPO:0003075) Hypoproteinemia 23385855 IBIS 27 / 7739
10
 (HPO:0002028) Chronic diarrhea 23385855 IBIS 51 / 7739
11
 (HPO:0002243) Protein-losing enteropathy 23385855 IBIS 8 / 7739
12
 (HPO:0001508) Failure to thrive 28815877; 23385855 IBIS 454 / 7739
13
 (HPO:0001620) High pitched voice 14757854; 28815877; 12754710; 23385855 IBIS 32 / 7739
14
 (HPO:0000479) Abnormality of the retina 23385855 IBIS 74 / 7739
15
 (HPO:0000316) Hypertelorism 14757854; 12754710; 23385855 IBIS 644 / 7739
16
 (HPO:0000325) Triangular face 14757854; 28815877; 28496510; 23385855 IBIS 91 / 7739
17
 (HPO:0011220) Prominent forehead 28815877; 28496510; 23385855 IBIS 137 / 7739
18
 (HPO:0002680) J-shaped sella turcica 14757854; 28496510; 23385855 IBIS 15 / 7739
19
 (HPO:0003100) Slender long bone 14757854; 28496510; 23385855 IBIS 45 / 7739
20
 (HPO:0008897) Postnatal growth retardation 28815877; 12754710; 23385855 IBIS 113 / 7739
21
 (HPO:0000175) Cleft palate 23385855 IBIS 349 / 7739
22
 (HPO:0001999) Abnormal facial shape 14757854; 28815877; 12754710; 23385855 IBIS 169 / 7739
23
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 14757854; 28815877; 23385855 IBIS 358 / 7739
24
 (HPO:0002992) Abnormality of the tibia 28815877; 12754710 IBIS 51 / 7739
25
 (HPO:0000044) Hypogonadotrophic hypogonadism 12754710 IBIS 56 / 7739
26
 (HPO:0001103) Abnormality of the macula 12754710 IBIS 7 / 7739
27
 (HPO:0001638) Cardiomyopathy 12754710 IBIS 192 / 7739
28
 (HPO:0002206) Pulmonary fibrosis 12754710 IBIS 51 / 7739
29
 (HPO:0001394) Cirrhosis 12754710 IBIS 102 / 7739
30
 (HPO:0001433) Hepatosplenomegaly 12754710 IBIS 78 / 7739
31
 (HPO:0000831) Insulin-resistant diabetes mellitus 12754710 IBIS 22 / 7739
32
 (HPO:0001028) Hemangioma 12754710 IBIS 23 / 7739
33
 (HPO:0000956) Acanthosis nigricans 12754710 IBIS 54 / 7739
34
 (HPO:0001513) Obesity 12754710 IBIS 172 / 7739
35
 (HPO:0000369) Low-set ears 28815877; 12754710 IBIS 372 / 7739
36
 (HPO:0000331) Short chin 28496510; 12754710 IBIS 33 / 7739
37
 (HPO:0000218) High palate 28815877; 12754710 IBIS 356 / 7739
38
 (HPO:0000431) Wide nasal bridge Frequent [Orphanet] 12754710 IBIS 290 / 7739
39
 (HPO:0000337) Broad forehead 14757854; 12754710 IBIS 116 / 7739
40
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 12754710 IBIS 298 / 7739
41
 (HPO:0008936) Muscular hypotonia of the trunk 12754710 IBIS 77 / 7739
42
 (HPO:0001249) Intellectual disability 12754710 IBIS 1089 / 7739
43
 (HPO:0001541) Ascites 28496510 IBIS 94 / 7739
44
 (HPO:0002240) Hepatomegaly Frequent [Orphanet] 14757854; 28815877; 28496510; 23385855; 23385855 IBIS 467 / 7739
45
 (HPO:0000013) Hypoplasia of the uterus 28496510 IBIS 21 / 7739
46
 (HPO:0008724) Hypoplasia of the ovary 28496510 IBIS 6 / 7739
47
 (HPO:0030807) Abnormal nail growth 28496510 IBIS 1 / 7739
48
 (HPO:0004691) 2-3 toe syndactyly 28496510 IBIS 50 / 7739
49
 (HPO:0000486) Strabismus 28496510 IBIS 576 / 7739
50
 (HPO:0000774) Narrow chest 14757854; 28496510 IBIS 167 / 7739
51
 (HPO:0001591) Bell-shaped thorax 28496510 IBIS 35 / 7739
52
 (HPO:0001698) Pericardial effusion 28496510 IBIS 20 / 7739
53
 (HPO:0002650) Scoliosis 28496510 IBIS 705 / 7739
54
 (HPO:0000765) Abnormality of the thorax 28496510 IBIS 64 / 7739
55
 (HPO:0001260) Dysarthria 28496510 IBIS 329 / 7739
56
 (HPO:0001263) Global developmental delay 28496510 IBIS 853 / 7739
57
 (HPO:0040195) Decreased head circumference 28496510 IBIS 1 / 7739
58
 (HPO:0001518) Small for gestational age 28496510 IBIS 107 / 7739
59
 (HPO:0000158) Macroglossia 28496510 IBIS 119 / 7739
60
 (HPO:0005280) Depressed nasal bridge 14757854; 28496510 IBIS 381 / 7739
61
 (HPO:0004322) Short stature Very frequent [Orphanet] 14757854; 28496510 IBIS 1232 / 7739
62
 (HPO:0000786) Primary amenorrhea 28815877; 28496510 IBIS 61 / 7739
63
 (HPO:0001256) Intellectual disability, mild 28496510 IBIS 141 / 7739
64
 (HPO:0003270) Abdominal distention 28496510 IBIS 46 / 7739
65
 (HPO:0012398) Peripheral edema 28496510 IBIS 12 / 7739
66
 (HPO:0100749) Chest pain 28496510 IBIS 92 / 7739
67
 (HPO:0002094) Dyspnea 28496510 IBIS 132 / 7739
68
 (HPO:0002875) Exertional dyspnea 28496510 IBIS 29 / 7739
69
 (HPO:0000083) Renal insufficiency 15108285 IBIS 232 / 7739
70
 (HPO:0002667) Nephroblastoma 14757854; 15108285 IBIS 30 / 7739
71
 (HPO:0001723) Restrictive cardiomyopathy 15108285 IBIS 22 / 7739
72
 (MedDRA:10057614) Pericardial calcification 15108285 IBIS 1 / 7739
73
 (HPO:0005132) Pericardial constriction 14757854; 28815877; 15108285; 23385855 IBIS 1 / 7739
74
 (HPO:0001635) Congestive heart failure 14757854; 28815877; 15108285 IBIS 232 / 7739
75
 (HPO:0001711) Abnormality of the left ventricle 28815877 IBIS 22 / 7739
76
 (HPO:0000767) Pectus excavatum 28815877 IBIS 244 / 7739
77
 (HPO:0000347) Micrognathia 28815877 IBIS 426 / 7739
78
 (MedDRA:10034229) Peliosis hepatis 28815877 IBIS 1 / 7739
79
 (HPO:0005213) Pancreatic calcification 28815877 IBIS 3 / 7739
80
 (HPO:0000076) Vesicoureteral reflux 28815877 IBIS 94 / 7739
81
 (HPO:0000540) Hypermetropia 28815877 IBIS 99 / 7739
82
 (HPO:0008081) Valgus foot deformity 28815877 IBIS 3 / 7739
83
 (HPO:0002816) Genu recurvatum 28815877 IBIS 30 / 7739
84
 (HPO:0004209) Clinodactyly of the 5th finger 28815877 IBIS 288 / 7739
85
 (HPO:0001643) Patent ductus arteriosus 14757854 IBIS 228 / 7739
86
 (HPO:0001629) Ventricular septal defect 14757854 IBIS 316 / 7739
87
 (HPO:0001631) Atria septal defect 14757854 IBIS 274 / 7739
88
 (HPO:0000883) Thin ribs 14757854 IBIS 31 / 7739
89
 (HPO:0007659) Decreased retinal pigmentation with dispersion 14757854 IBIS 1 / 7739
90
 (HPO:0001608) Abnormality of the voice Very frequent [Orphanet] 14757854 IBIS 126 / 7739
91
 (HPO:0000790) Hematuria 14757854 IBIS 106 / 7739
92
 (HPO:0002896) Neoplasm of the liver 14757854 IBIS 17 / 7739
93
 (HPO:0000239) Large fontanelles 14757854 IBIS 135 / 7739
94
 (HPO:0002007) Frontal bossing 14757854 IBIS 366 / 7739
95
 (HPO:0004488) Macrocephaly at birth 14757854 IBIS 2 / 7739
96
 (HPO:0001252) Muscular hypotonia 14757854 IBIS 990 / 7739
97
 (HPO:0011314) Abnormality of long bone morphology 14757854 IBIS 3 / 7739
98
 (HPO:0001052) Nevus flammeus 14757854 IBIS 88 / 7739
99
 (HPO:0000348) High forehead 14757854 IBIS 157 / 7739
100
 (HPO:0030799) Scaphocephaly 14757854 IBIS 2 / 7739
101
 (HPO:0011947) Respiratory tract infection 14757854 IBIS 28 / 7739
102
 (HPO:0011968) Feeding difficulties 14757854 IBIS 240 / 7739
103
 (HPO:0000678) Dental crowding 65 / 7739
104
 (HPO:0000668) Hypodontia 81 / 7739
105
 (HPO:0000268) Dolichocephaly 144 / 7739
106
 (HPO:0002688) Absent frontal sinuses 12 / 7739
107
 (HPO:0000171) Microglossia 27 / 7739
108
 (HPO:0002738) Hypoplastic frontal sinuses 6 / 7739
109
 (HPO:0007757) Hypoplasia of choroid 1 / 7739
110
 (HPO:0000483) Astigmatism 67 / 7739
111
 (HPO:0000580) Pigmentary retinopathy 49 / 7739
112
 (HPO:0001315) Reduced tendon reflexes Very frequent [Orphanet] 160 / 7739
113
 (HPO:0004326) Cachexia Very frequent [Orphanet] 71 / 7739
114
 (HPO:0003764) Nevus 17 / 7739
115
 (HPO:0001685) Myocardial fibrosis 30 / 7739
116
 (HPO:0001621) Weak voice 5 / 7739
117
 (HPO:0002119) Ventriculomegaly 253 / 7739
118
 (OMIM) Yellowish dots in fundi 14757854; 28815877 IBIS 1 / 7739
119
 (OMIM) Absent or small frontal sinus 1 / 7739
120
 (OMIM) Absent or small sphenoidal sinus 1 / 7739
121
 (OMIM) Cutaneous nevi flammei (limbs) 1 / 7739
122
 (OMIM) Hypodontia of second bicuspid 1 / 7739
123
 (OMIM) Normal bone age 4 / 7739
124
 (OMIM) Hypertelorism, mild 11 / 7739
125
 (OMIM) Adult female height 126-151 cm 1 / 7739
126
 (OMIM) Relatively small tongue 1 / 7739
127
 (OMIM) Birth weight 1.5-2 S.D. below mean 1 / 7739
128
 (OMIM) Normal intelligence 81 / 7739
129
 (OMIM) Elevated venous pressure 1 / 7739
130
 (OMIM) Deep, broad nasal bridge 1 / 7739
131
 (OMIM) Globular shaped heart on x-ray 2 / 7739
132
 (OMIM) Fibrous dysplasia (especially tibia) 1 / 7739
133
 (OMIM) Weak, high-pitched voice 1 / 7739
134
 (OMIM) Birth length 1.5-2 S.D. below mean 1 / 7739
135
 (OMIM) Adult male height 136-161 cm 1 / 7739
136
 (OMIM) Short stature, prenatal onset 1 / 7739

Associated genes:

TRIM37;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Mulibrey nanism is a rare autosomal recessive growth disorder with prenatal onset, including occasional progressive cardiomyopathy, characteristic facial features, failure of sexual maturation, insulin resistance with type 2 diabetes, and an increased risk for Wilms tumor (summary by Hamalainen ...
Clinical Description OMIM Perheentupa et al. (1973) first described and named this disorder in 23 patients in Finland, including 3 pairs of affected sibs born of consanguineous parents. Growth failure was evident at birth and was progressive. The patients had a characteristic ...
Molecular genetics OMIM By positional cloning, Avela et al. (2000) identified the MUL gene and found 4 independent mulibrey nanism-associated mutations (605073.0001-605073.0004). A 5-bp deletion (605073.0001) was found to be the major Finnish mutation.

In a Turkish family studied in ...