MCID: HRD113
MIFTS: 19

Hereditary Acrokeratotic Poikiloderma, Weary Type

Categories: Skin diseases, Rare diseases

Aliases & Classifications for Hereditary Acrokeratotic Poikiloderma, Weary Type

Summaries for Hereditary Acrokeratotic Poikiloderma, Weary Type

MalaCards based summary : Hereditary Acrokeratotic Poikiloderma, Weary Type, is also known as congenital poikiloderma with bullae, weary type. An important gene associated with Hereditary Acrokeratotic Poikiloderma, Weary Type is FERMT1 (Fermitin Family Member 1). Affiliated tissues include skin and bone, and related phenotypes are abnormality of the renal tubule and narrow mouth

Wikipedia : 76 Kindler syndrome (also known as \"bullous acrokeratotic poikiloderma of Kindler and Weary\",) is a rare... more...

Related Diseases for Hereditary Acrokeratotic Poikiloderma, Weary Type

Symptoms & Phenotypes for Hereditary Acrokeratotic Poikiloderma, Weary Type

Human phenotypes related to Hereditary Acrokeratotic Poikiloderma, Weary Type:

59 32 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the renal tubule 59 32 occasional (7.5%) Occasional (29-5%) HP:0000091
2 narrow mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000160
3 trismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000211
4 xerostomia 59 32 frequent (33%) Frequent (79-30%) HP:0000217
5 gingival bleeding 59 32 frequent (33%) Frequent (79-30%) HP:0000225
6 gingivitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000230
7 turricephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000262
8 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
9 ectropion 59 32 occasional (7.5%) Occasional (29-5%) HP:0000656
10 abnormality of the ribs 59 32 occasional (7.5%) Occasional (29-5%) HP:0000772
11 abnormality of the urethra 59 32 occasional (7.5%) Occasional (29-5%) HP:0000795
12 thin skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000963
13 eczema 59 32 hallmark (90%) Very frequent (99-80%) HP:0000964
14 palmoplantar hyperkeratosis 59 32 frequent (33%) Frequent (79-30%) HP:0000972
15 urticaria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001025
16 hypopigmented skin patches 59 32 hallmark (90%) Very frequent (99-80%) HP:0001053
17 keratoconjunctivitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001096
18 abnormality of the metacarpal bones 59 32 occasional (7.5%) Occasional (29-5%) HP:0001163
19 dystrophic toenail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001810
20 oral leukoplakia 59 32 frequent (33%) Frequent (79-30%) HP:0002745
21 squamous cell carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002860
22 abnormality of the hip bone 59 32 occasional (7.5%) Occasional (29-5%) HP:0003272
23 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
24 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692
25 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
26 premature loss of primary teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0006323
27 transitional cell carcinoma of the bladder 59 32 occasional (7.5%) Occasional (29-5%) HP:0006740
28 irregular hyperpigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007400
29 opacification of the corneal stroma 59 32 occasional (7.5%) Occasional (29-5%) HP:0007759
30 ichthyosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008064
31 abnormal blistering of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0008066
32 dystrophic fingernails 59 32 hallmark (90%) Very frequent (99-80%) HP:0008391
33 ankyloglossia 59 32 frequent (33%) Frequent (79-30%) HP:0010296
34 erythema 59 32 hallmark (90%) Very frequent (99-80%) HP:0010783
35 open bite 59 32 occasional (7.5%) Occasional (29-5%) HP:0010807
36 abnormality of the gastrointestinal tract 59 32 occasional (7.5%) Occasional (29-5%) HP:0011024
37 camptodactyly of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0100490
38 telangiectasia of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0100585
39 abnormality of the preputium 59 32 frequent (33%) Frequent (79-30%) HP:0100587
40 abnormal pigmentation of the oral mucosa 59 32 frequent (33%) Frequent (79-30%) HP:0100669
41 papule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200034
42 pustule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200039
43 skin ulcer 59 32 frequent (33%) Frequent (79-30%) HP:0200042
44 abnormality of the dentition 59 Frequent (79-30%)
45 abnormality of the skeletal system 59 Occasional (29-5%)
46 abnormality of the skull 59 Frequent (79-30%)
47 nail dystrophy 59 Very frequent (99-80%)

Drugs & Therapeutics for Hereditary Acrokeratotic Poikiloderma, Weary Type

Search Clinical Trials , NIH Clinical Center for Hereditary Acrokeratotic Poikiloderma, Weary Type

Genetic Tests for Hereditary Acrokeratotic Poikiloderma, Weary Type

Anatomical Context for Hereditary Acrokeratotic Poikiloderma, Weary Type

MalaCards organs/tissues related to Hereditary Acrokeratotic Poikiloderma, Weary Type:

41
Skin, Bone

Publications for Hereditary Acrokeratotic Poikiloderma, Weary Type

Variations for Hereditary Acrokeratotic Poikiloderma, Weary Type

Expression for Hereditary Acrokeratotic Poikiloderma, Weary Type

Search GEO for disease gene expression data for Hereditary Acrokeratotic Poikiloderma, Weary Type.

Pathways for Hereditary Acrokeratotic Poikiloderma, Weary Type

GO Terms for Hereditary Acrokeratotic Poikiloderma, Weary Type

Sources for Hereditary Acrokeratotic Poikiloderma, Weary Type

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