Acromegaly

General Information (adopted from Orphanet):

Synonyms, Signs: PITUITARY ADENOMA, FAMILIAL ISOLATED, INCLUDED
SOMATOSTATIN ANALOG, RESISTANCE TO, INCLUDED
ACROMEGALY DUE TO PITUITARY ADENOMA PITUITARY ADENOMA PREDISPOSITION, INCLUDED
ISOLATED FAMILIAL SOMATOTROPINOMA
SOMATOTROPHINOMA, FAMILIAL
SOMATOTROPINOMA, FAMILIAL ISOLATED
FIPA, INCLUDED
PAP, INCLUDED
FIS
IFS
Number of Symptoms 63
OrphanetNr: 963
OMIM Id: 102200
ICD-10: E22.0
UMLs: C0001206
MeSH: D000172
MedDRA: 10000599
Snomed: 74107003

Prevalence, inheritance and age of onset:

Prevalence: 6 of 100 000 [Orphanet]
Inheritance: Not applicable
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Somatotroph adenoma
 -Rare endocrine disease
 -Rare genetic disease
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001608) Abnormality of the voice Frequent [Orphanet] 126 / 7739
2
 (HPO:0000098) Tall stature Very frequent [Orphanet] 74 / 7739
3
 (HPO:0001712) Left ventricular hypertrophy 76 / 7739
4
 (HPO:0001633) Abnormality of the mitral valve Occasional [Orphanet] 69 / 7739
5
 (HPO:0001638) Cardiomyopathy Occasional [Orphanet] 192 / 7739
6
 (HPO:0000822) Hypertension Frequent [Orphanet] 224 / 7739
7
 (HPO:0100540) Palpebral edema Frequent [Orphanet] 31 / 7739
8
 (HPO:0000158) Macroglossia Very frequent [Orphanet] 119 / 7739
9
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
10
 (HPO:0000763) Sensory neuropathy Frequent [Orphanet] 78 / 7739
11
 (HPO:0100021) Cerebral palsy Frequent [Orphanet] 36 / 7739
12
 (HPO:0100851) Abnormal emotion/affect behavior Frequent [Orphanet] 85 / 7739
13
 (HPO:0100639) Erectile abnormalities Occasional [Orphanet] 15 / 7739
14
 (HPO:0002360) Sleep disturbance Occasional [Orphanet] 113 / 7739
15
 (HPO:0002315) Headache Frequent [Orphanet] 175 / 7739
16
 (HPO:0100746) Macrodactyly of finger Very frequent [Orphanet] 5 / 7739
17
 (HPO:0001769) Broad foot Very frequent [Orphanet] 31 / 7739
18
 (HPO:0001869) Deep plantar creases Very frequent [Orphanet] 14 / 7739
19
 (HPO:0006191) Deep palmar crease Very frequent [Orphanet] 16 / 7739
20
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
21
 (HPO:0000303) Mandibular prognathia Very frequent [Orphanet] 179 / 7739
22
 (HPO:0001357) Plagiocephaly Very frequent [Orphanet] 106 / 7739
23
 (HPO:0000337) Broad forehead Very frequent [Orphanet] 116 / 7739
24
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
25
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
26
 (HPO:0003416) Spinal canal stenosis Frequent [Orphanet] 28 / 7739
27
 (HPO:0005059) Arthralgia/arthritis Very frequent [Orphanet] 141 / 7739
28
 (HPO:0002758) Osteoarthritis Very frequent [Orphanet] 78 / 7739
29
 (HPO:0011362) Abnormal hair quantity Frequent [Orphanet] 92 / 7739
30
 (HPO:0000664) Synophrys Frequent [Orphanet] 112 / 7739
31
 (HPO:0001805) Thick nail Frequent [Orphanet] 96 / 7739
32
 (HPO:0000818) Abnormality of the endocrine system Very frequent [Orphanet] 26 / 7739
33
 (HPO:0000858) Menstrual irregularities Frequent [Orphanet] 42 / 7739
34
 (HPO:0000080) Abnormality of reproductive system physiology Occasional [Orphanet] 6 / 7739
35
 (HPO:0000280) Coarse facial features Very frequent [Orphanet] 189 / 7739
36
 (HPO:0000293) Full cheeks Very frequent [Orphanet] 85 / 7739
37
 (HPO:0012471) Thick vermilion border Very frequent [Orphanet] 115 / 7739
38
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
39
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
40
 (HPO:0000845) Growth hormone excess 18 / 7739
41
 (HPO:0011750) Neoplasm of the anterior pituitary Frequent [Orphanet] 6 / 7739
42
 (HPO:0002893) Pituitary adenoma 16 / 7739
43
 (HPO:0002104) Apnea Frequent [Orphanet] 106 / 7739
44
 (HPO:0000956) Acanthosis nigricans Occasional [Orphanet] 54 / 7739
45
 (HPO:0000953) Hyperpigmentation of the skin Occasional [Orphanet] 75 / 7739
46
 (HPO:0001061) Acne Occasional [Orphanet] 33 / 7739
47
 (HPO:0001072) Thickened skin Very frequent [Orphanet] 87 / 7739
48
 (HPO:0011037) Decreased urine output Occasional [Orphanet] 47 / 7739
49
 (HPO:0000819) Diabetes mellitus Frequent [Orphanet] 131 / 7739
50
 (HPO:0100829) Galactorrhea Occasional [Orphanet] 7 / 7739
51
 (HPO:0040075) Hypopituitarism Very frequent [Orphanet] 32 / 7739
52
 (MedDRA:10036832) Prolactinoma 5 / 7739
53
 (OMIM) Anterior pituitary adenoma 3 / 7739
54
 (OMIM) Cushing disease due to increased ACTH secretion (less common) 3 / 7739
55
 (OMIM) Enlarged feet 3 / 7739
56
 (OMIM) Enlarged hands 3 / 7739
57
 (OMIM) Galactorrhea from increased serum prolactin 3 / 7739
58
 (OMIM) Increased height 3 / 7739
59
 (OMIM) Increased serum IGF1 3 / 7739
60
 (OMIM) Increased serum growth hormone levels 3 / 7739
61
 (OMIM) Increased serum prolactin 3 / 7739
62
 (OMIM) Mandibular enlargement 4 / 7739
63
 (OMIM) Somatotrophinoma 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Pituitary adenomas are benign monoclonal neoplasms of the anterior pituitary gland, accounting for approximately 15% of intracranial tumors. Growth hormone (GH; 139250)-secreting tumors, which clinically result in acromegaly, comprise about 20% of all pituitary tumors and are the ...
Clinical Description OMIM Levin et al. (1974) reported 2 brothers with acromegaly confirmed by elevated serum GH levels and the finding of pituitary tumors. Both also had acanthosis nigricans.

Jones et al. (1984) reported an uncle and nephew with ...
Molecular genetics OMIM - Germline Mutations in the AIP Gene

In affected individuals from a large Finnish family with pituitary adenoma predisposition, Vierimaa et al. (2006) identified a heterozygous germline mutation in the AIP gene (Q14X; 605555.0001). Further screening ...