Ito hypomelanosis

General Information (adopted from Orphanet):

Synonyms, Signs: INCONTINENTIA PIGMENTI, TYPE I, FORMERLY
ITO HYPOMELANOSIS
IP1, FORMERLY
INCONTINENTIA PIGMENTI ACHROMIANS
IPA
ITO
HMI
Pigmentary mosaicism, Ito type
Hypomelanosis of Ito
HI syndrome
Incontinentia pigmenti type 1
Number of Symptoms 67
OrphanetNr: 435
OMIM Id: 300337
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
X-linked recessive
Not applicable
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Ectodermal dysplasia syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
Genetic hypopigmentation of the skin
 -Rare genetic disease
Hypopigmentation of the skin
 -Rare skin disease
Neurocutaneous syndrome with epilepsy
 -Rare genetic disease
 -Rare neurologic disease
Pigmentation disorder with eye involvement, excluding albinism
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
2
 (HPO:0000481) Abnormality of the cornea Frequent [Orphanet] 124 / 7739
3
 (HPO:0001100) Heterochromia iridis Very frequent [Orphanet] 31 / 7739
4
 (HPO:0008053) Aplasia/Hypoplasia of the iris Very frequent [Orphanet] 38 / 7739
5
 (HPO:0000612) Iris coloboma Occasional [Orphanet] 116 / 7739
6
 (HPO:0000518) Cataract 454 / 7739
7
 (HPO:0000479) Abnormality of the retina Occasional [Orphanet] 74 / 7739
8
 (HPO:0008002) Abnormality of macular pigmentation Frequent [Orphanet] 20 / 7739
9
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
10
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
11
 (HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
12
 (HPO:0000545) Myopia Frequent [Orphanet] 286 / 7739
13
 (HPO:0003220) Abnormality of chromosome stability Frequent [Orphanet] 98 / 7739
14
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
15
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
16
 (HPO:0001249) Intellectual disability 1089 / 7739
17
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
18
 (HPO:0001511) Intrauterine growth retardation Occasional [Orphanet] 358 / 7739
19
 (HPO:0002970) Genu varum Occasional [Orphanet] 60 / 7739
20
 (HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 212 / 7739
21
 (HPO:0001161) Hand polydactyly 71 / 7739
22
 (HPO:0009466) Radial deviation of finger Occasional [Orphanet] 101 / 7739
23
 (HPO:0010442) Polydactyly 69 / 7739
24
 (HPO:0001159) Syndactyly 140 / 7739
25
 (HPO:0002814) Abnormality of the lower limb Occasional [Orphanet] 23 / 7739
26
 (HPO:0001199) Triphalangeal thumb Occasional [Orphanet] 56 / 7739
27
 (HPO:0000248) Brachycephaly Occasional [Orphanet] 222 / 7739
28
 (HPO:0000268) Dolichocephaly Occasional [Orphanet] 144 / 7739
29
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
30
 (HPO:0000256) Macrocephaly Frequent [Orphanet] 298 / 7739
31
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
32
 (HPO:0002808) Kyphosis 289 / 7739
33
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
34
 (HPO:0003298) Spina bifida occulta Frequent [Orphanet] 67 / 7739
35
 (HPO:0011362) Abnormal hair quantity Occasional [Orphanet] 92 / 7739
36
 (HPO:0001596) Alopecia 162 / 7739
37
 (HPO:0000598) Abnormality of the ear Occasional [Orphanet] 98 / 7739
38
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
39
 (HPO:0000280) Coarse facial features 189 / 7739
40
 (HPO:0000582) Upslanted palpebral fissure Frequent [Orphanet] 185 / 7739
41
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
42
 (HPO:0012471) Thick vermilion border 115 / 7739
43
 (HPO:0100789) Torus palatinus Occasional [Orphanet] 6 / 7739
44
 (HPO:0006482) Abnormality of dental morphology Frequent [Orphanet] 81 / 7739
45
 (HPO:0006316) Irregularly spaced teeth 2 / 7739
46
 (HPO:0000457) Depressed nasal ridge Occasional [Orphanet] 85 / 7739
47
 (HPO:0000286) Epicanthus 371 / 7739
48
 (HPO:0001053) Hypopigmented skin patches Very frequent [Orphanet] 80 / 7739
49
 (HPO:0005593) Macular hypopigmented whorls, streaks, and patches 1 / 7739
50
 (HPO:0001052) Nevus flammeus Occasional [Orphanet] 88 / 7739
51
 (HPO:0000112) Nephropathy Occasional [Orphanet] 92 / 7739
52
 (HPO:0100026) Arteriovenous malformation Occasional [Orphanet] 38 / 7739
53
 (HPO:0100555) Asymmetric growth Occasional [Orphanet] 25 / 7739
54
 (HPO:0002536) Abnormal cortical gyration Occasional [Orphanet] 72 / 7739
55
 (HPO:0040065) Abnormal morphology of bones of the upper limbs Occasional [Orphanet] 25 / 7739
56
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739
57
 (HPO:0002059) Cerebral atrophy 171 / 7739
58
 (HPO:0030084) Clinodactyly 90 / 7739
59
 (HPO:0002281) Gray matter heterotopias 4 / 7739
60
 (HPO:0001425) Heterogeneous 132 / 7739
61
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
62
 (HPO:0010636) Schizencephaly Occasional [Orphanet] 5 / 7739
63
 (HPO:0001442) Somatic mosaicism 7 / 7739
64
 (HPO:0001428) Somatic mutation Frequent [Orphanet] 100 / 7739
65
 (MedDRA:10058668) Clinodactyly 91 / 7739
66
 (OMIM) Chromosomal mosaicism in fibroblast and/or peripheral lymphocytes No consistent karyotypic finding 1 / 7739
67
 (OMIM) No inflammatory or bullous skin lesions 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Although some features are similar to those of classic incontinentia pigmenti (308300), the differences are sufficient to establish it as a separate disorder. The disorder is characterized by unilateral or bilateral macular hypopigmented whorls, streaks, and patches which ...
Population genetics OMIM Pascual-Castroviejo et al. (1988) studied 34 Spanish children with this disorder. The incidence was about 1 per 1,000 new patients consulting a pediatric neurologic service, or 1 in 8,000 to 10,000 unselected patients in a children's hospital. About ...